| 1. |
- Antoniou, Antonis C., et al.
(författare)
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
- 2011
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:16, s. 3304-3321
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Tidskriftsartikel (refereegranskat)abstract
- Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
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| 2. |
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| 3. |
- Arup, Ulf, et al.
(författare)
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High performance thin layer chromatography (HPTLC), an improved technique for screening lichen substances.
- 1993
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Ingår i: The Lichenologist. - : Cambridge University Press (CUP). - 0024-2829 .- 1096-1135. ; 25, s. 61-71
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Tidskriftsartikel (refereegranskat)abstract
- High performance thin layer chromatography (HPTLC) is a method that can be used for screening lichen substances. It is as simple to use as standard TLC, but has many advantages: It is more sensitive, it is possible to run more samples in a shorter period of time, and the amount of solvent used is much smaller. The material needed and the methods used are described in detail. Horizontal chromatogram development was used. Since two of the solvents used in system B have been substituted, and since the properties of the HPTLC plates are slightly different, our results are not entirely in accordance with the standardized TLC method. A revised table for the identification of 69 lichen substances (obtained from 62 taxa) is accordingly presented.
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| 4. |
- Arup, Ulf, et al.
(författare)
-
Professor Ingvar Kärnfelt - a birthday tribute
- 2009
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Ingår i: The Lichenologist. - Cambridge : Cambridge University Press. - 0024-2829 .- 1096-1135. ; 41:5, s. 453-456
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- On 19 July 2009 Ingvar Kärnefelt celebrated his 65th birthday. This could have meant that we, his former students, would be celebrating him in his retirement from his position as head of the Biological Museums at Lund University. We are grateful that this is not the case, as Ingvar will carry on, probably for at least one or two more years. Instead, we celebrate Ingvar because he is the main reason for all of us having studied lichenology in Lund. This special issue of The Lichenologist is dedicated to him as a birthday tribute in honour of his long and fruitful lichenological career. The main authors of all the papers in this issue are former students of Ingvar. For several of us he has not only acted as supervisor but later also as the director of the Botanical Museum where we meet him in our daily work.
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| 5. |
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| 6. |
- Crespo, Ana, et al.
(författare)
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Phylogenetic generic classification of parmelioid lichens (Parmeliaceae,Ascomycota) based on molecular, morphological and chemical evidence.
- 2010
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Ingår i: Taxon. - : John Wiley & Sons. - 0040-0262 .- 1996-8175. ; 59:6, s. 1735-1753
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Tidskriftsartikel (refereegranskat)abstract
- Parmelioid lichens are a diverse and ubiquitous group of foliose lichens. Generic delimitation in parmelioid lichens has been in a state of flux since the late 1960s with the segregation of the large, heterogeneous genus Parmelia into numerous smaller genera. Recent molecular phylogenetic studies have demonstrated that some of these new genera were monophyletic, some were not, and others, previously believed to be unrelated, fell within single monophyletic groups, indicating the need for a revision of the generic delimitations. This study aims to give an overview of current knowledge of the major clades of all parmelioid lichens. For this, we assembled a dataset of 762 specimens, including 31 of 33 currently accepted parmelioid genera (and 63 of 84 accepted genera of Parmeliaceae). We performed maximum likelihood and Bayesian analyses of combined datasets including two, three and four loci. Based on these phylogenies and the correlation of morphological and chemical characters that characterize monophyletic groups, we accept 27 genera within nine main clades. We re-circumscribe several genera and reduce Parmelaria to synonymy with Parmotrema. Emodomelanelia Divakar & A. Crespo is described as a new genus (type: E. masonii). Nipponoparmelia (Kurok.) K.H. Moon, Y. Ohmura & Kashiw. ex A. Crespo & al. is elevated to generic rank and 15 new combinations are proposed (in the genera Flavoparmelia, Parmotrema, Myelochroa, Melanelixia and Nipponoparmelia). A short discussion of the accepted genera is provided and remaining challenges and areas requiring additional taxon sampling are identified.
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| 7. |
- Ding, Yuan C, et al.
(författare)
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A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers
- 2012
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Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : American Association for Cancer Research. - 1055-9965 .- 1538-7755. ; 21:8, s. 1362-1370
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers.METHODS: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers.RESULTS: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06-1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39-3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28-2.70; class I HR, 0.86; 95%CI, 0.69-1.09; P(difference), 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03).CONCLUSION: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers.Impact: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers.
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| 8. |
- Djureinovic, Tatjana, et al.
(författare)
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The CHEK2 1100delC variant in Swedish colorectal cancer
- 2006
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Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 26:6C, s. 4885-4888
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The cell cycle checkpoint kinase 2 (CHEK2) 1100delC variant has recently been identified at high frequency in families with both breast and colorectal cancer, suggesting the possible role of this variant in colorectal cancer predisposition. PATIENTS AND METHODS: To evaluate the role of CHEK2 ll00delC among Swedish colorectal cancer patients, the variant frequency was determined in 174 selected familial cases, 644 unselected cases and 760 controls, as well as in l8 families used in the genome-wide linkage analysis, where weak linkage was seen for the region harboring the CHEK2 gene. RESULTS: CHEK2 l100delC was found in 1.15% of familial and in 0.93% of unselected cases, compared to 0.66% of controls, showing no significant difference between groups. One out of 45 familial cases with a family history of breast cancer was shown to be a carrier. The variant was not identified in the 18 families included in the linkage analysis. CONCLUSION: The CHEK2 1100delC was not significantly increased in Swedish colorectal cancer patients, however, in order to determine the role of the variant in colorectal cancer families with the history of breast cancer a larger sample size is needed.
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| 9. |
- Ekman, Stefan, et al.
(författare)
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Extended phylogeny and a revised generic classification of the Pannariaceae (Peltigerales, Ascomycota)
- 2014
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Ingår i: The Lichenologist. - 0024-2829 .- 1096-1135. ; 46:5, s. 627-656
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Tidskriftsartikel (refereegranskat)abstract
- We estimated phylogeny in the lichen-forming ascomycete family Pannariaceae. We specifically modelled spatial (across-site) heterogeneity in nucleotide frequencies, as models not incorporating this heterogeneity were found to be inadequate for our data. Model adequacy was measured here as the ability of the model to reconstruct nucleotide diversity per site in the original sequence data. A potential non-orthologue in the internal transcribed spacer region (ITS) of Degelia plumbea was observed. We propose a revised generic classification for the Pannariaceae, accepting 30 genera, based on our phylogeny, previously published phylogenies, as well as available morphological and chemical data. Four genera are established as new: Austroparmeliella (for the 'Parmeliella' lacerata group), Nebularia (for the 'Parmeliella' incrassata group), Nevesia (for 'Fuscopannaria' sampaiana), and Pectenia (for the 'Degelia' plumbea group). Two genera are reduced to synonymy, Moelleropsis (included in Fuscopannaria) and Santessoniella (non-monophyletic; type included in Psoroma). Lepidocollema, described as monotypic, is expanded to include 23 species, most of which have been treated in the 'Parmeliella' mariana group. Homothecium and Leightoniella, previously treated in the Collemataceae, are here referred to the Pannariaceae. We propose 41 new species-level combinations in the newly described and re-circumscribed genera mentioned above, as well as in Leciophysma and Psoroma.
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| 10. |
- Escala-Garcia, Maria, et al.
(författare)
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A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
- 2020
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies similar to 7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis.
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| 11. |
- Frödén, Patrik, et al.
(författare)
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Fjällig vägglav fortfarande kvar i Sverige.
- 2003
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Ingår i: Lavbulletinen. - 1651-6435. ; 2003:1, s. 22-25
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Tidskriftsartikel (refereegranskat)abstract
- Länge ansågs det att fjällig vägglav bara fanns kvar på en enda alm vid Dalby kyrka i Skåne. Efter att trädet höggs ner befarades laven vara borta ur den svenska floran. Den är nu återfunnen på en mur bara några meter från där trädet en gång stod.
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| 12. |
- Hollestelle, Antoinette, et al.
(författare)
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- 2016
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Ingår i: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
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Tidskriftsartikel (refereegranskat)abstract
- Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
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| 13. |
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| 14. |
- Junestedt, Christian, et al.
(författare)
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Förslag på utformning av ett livscykelbaserat system för kartläggning av flöden av omställningskritiska råmaterial i den svenska teknosfären
- 2023
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Den 24 mars 2021 gav regeringen SGU i uppdrag att tillsammans med Naturvårdsverket arbeta för att öka möjligheterna till hållbar utvinning av mineral och metaller från sekundära råmaterial (Näringsdepartementet, 2021). Uppdraget innehåller ett antal strecksatser varav den fjärde handlar om att ge en överblick över flöden av kritiska mineral och metaller samt att föreslå system för hur livscykelanalys och spårbarhet kan utformas för att bidra till en cirkulär ekonomi. Denna rapport avhandlar en del av strecksatsen och beskriver resultatet av arbetet med att föreslå det efterfrågade systemet.Inom ramen för arbetet har det varit nödvändigt att tolka och delvis omdefiniera några av de efterfrågade delarna i systemet. I den här studien läggs tyngdpunkten på totala mängder, fördelning och användning av råmaterial, snarare än genom vilka värdekedjor ett visst delflöde av råmaterial har flödat eller vilket hållbarhetsavtryck det råmaterialflödet har orsakat. För att tydliggöra den avgränsningen benämns det system som föreslås i den här studien för ett kartläggningssystem i stället för ett spårbarhetssystem. Ett system för att spåra eller kartlägga kritiska råmaterial med syftet att bidra till en cirkulär ekonomi bör initialt inte inriktas på att samla in livscykeldata eller på att ta fram nya LCA-undersökningar, utan i stället fokusera på var olika material finns, i vilka mängder dessa förekommer samt var i livscykeln (teknosfären) dessa befinner sig och när dessa (om möjligt) kan bli tillgängliga för att återanvändas eller återvinnas. I ett uppbyggnadsskede är det därmed ett livscykelperspektiv som behövs i systemet och inte ett system för livscykelanalys.I arbetet med att ta fram och föreslå ett system har det ingått att beskriva befintliga datakällor, hur ett beräkningssystem skulle kunna utformas samt att beskriva hur datakällor och beräkningar ska kunna kombineras till ett system som också tar hänsyn till det arbete som inletts med digitala produktpass som ett led i den nya ekodesignförordningen som föreslås implementeras inom EU framöver.SMED förordar att ett framtida livscykelbaserat kartläggningssystem för kritiska råmaterial i den svenska teknosfären utvecklas med en så kallad bottom-up-ansats. Det innebär ett mer komplext system som ställer större krav på datainsamlingen än med en top-down-ansats. Samtidigt lägger det grunden för ett system som kan bli varaktigt över tid och som fullt ut kan dra fördel av den dramatiska ökningen av tillgängliga produktdata som de digitala produktpassen troligtvis kommer att innebära. Utformningen av och innehållet i produktpassen kommer regleras i den delegerade akten för respektive produktgrupp. Begränsad tillgång till produktdata har hittills varit det främsta argumentet för en top-down-ansats. Den pågående och samhällsgenomgripande omställningen av det svenska och europeiska energisystemet kommer att innebära ett växande materialberoende. SMED anser därför att kartläggningssystemet med stor sannolikhet kommer att vara relevant under lång tid framöver, vilket väl motiverar en hög inledande ambitionsnivå för att från början utveckla ett system att växa i. Systemet blir av nödvändighet mycket dataintensivt, men bygger i hög grad på data som samlas in centralt.Som framgår i flera avsnitt i den här rapporten har kartläggningssystemet utformats för att vara förenligt med de initiativ som SMED bedömer vara de viktigaste initiativen. Särskild uppmärksamhet ges åt batteriförordningen och ekodesignförordningens produktpass på EU-nivå och Avfallsregistret på nationell nivå.En framgångsfaktor för det föreslagna kartläggningssystemet blir att fortlöpande bevaka utvecklingen på området för att både säkerställa att Sveriges nationella system blir konsistent med de framväxande systemen på EU-nivå, och att identifiera och utnyttja de möjligheter till synergier mellan olika system och olika aktörer som kartläggningssystemet kommer att medföra. Inte minst har det potentialen att lindra uppgiftslämnarbördan för näringslivet, eftersom delar av den data som kartläggningssystemet behöver samtidigt efterfrågas och i många fall begärs för andra ändamål.Sammantaget kommer SMED till slutsatsen att mycket talar för att gå vidare med en utveckling av ett kartläggningssystem enligt vad som rekommenderas vidare i rapporten. För det fall de digitala produktpassen implementeras i en nära framtid och kan tillhandahålla den data som idag förespeglas kommer utvecklingskostnader och uppgiftslämnarbördor att hållas nere väsentligt. Å andra sidan, om data över flöden av kritiska råmaterial av ett eller annat skäl inte kommer att tillhandahållas av produktpassen ökar värdet av ett svenskt kartläggningssystem ytterligare, eftersom det då (så vitt vi kan förutse idag) inte kommer att finnas något annat system som kan teckna den nödvändiga kartan.
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| 15. |
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| 16. |
- Lindblom, Louise, et al.
(författare)
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New evidence corroborates population differentiation in Xanthoria parietina
- 2007
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Ingår i: The Lichenologist. - 0024-2829 .- 1096-1135. ; 39, s. 259-271
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Tidskriftsartikel (refereegranskat)abstract
- In order to examine genetic variation and population structure of the widespread lichen-forming ascomycete Xanthoria parietina from similar habitats, but different sites in Scandinavia, we investigated seven populations in Scania, southernmost Sweden, and compared the results with a corresponding study on Storfosna, central Norway. Sequence variations of the nuclear ribosomal DNA were used as molecular markers, for both a part of the IGS region and the complete ITSI-5.8S-ITS2 region. The amount of genetic variability observed was comparable in the two investigations. Divergence between populations in different habitats found in the previous study was also present in this study. Xanthoria parietina is genetically differentiated between habitats with no evidence of restricted gene flow between populations in the same habitat at the present spatial scale, at least at sites along the coast of Scandinavia. Differentiation between habitats is considerable at both study sites, which we attribute to restricted gene flow between habitats, i.e. habitat isolation.
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| 17. |
- Lindblom, Louise, et al.
(författare)
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RAPDs distinguish the lichens Xanthoria aureola and X. parietina in a mixed seashore rock population
- 2012
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Ingår i: Nova Hedwigia. - : Schweizerbart. - 0029-5035. ; 94:3-4, s. 279-285
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Tidskriftsartikel (refereegranskat)abstract
- Morphological characters can vary to an extent that makes it difficult to separate the two morphologically and chemically similar species Xanthoria aureola and X. parietina for an inexperienced field biologist. They occur frequently in mixed stands on seashore rocks on the western coast of Norway. We examined (1) whether a simple method like RAPD-PCR could confirm the distinction between the two species previously reported on the basis of DNA sequences, and (2) whether infraspecific DNA and RAPD data from X. parietina were congruent. We also checked whether the RAPD band scoring procedure could affect the results. Results show that (1) RAPD distance matrices based on band scorings performed independently by the two authors were always congruent and differences never affected conclusions, (2) RAPD clearly distinguishes between X. parietina and X. aureola in a way that is fully congruent with a classification based on DNA sequence data, and (3) there was no significant congruence between infraspecific distances based on DNA sequences and RAPD data in X. parietina. The latter observation may be taken as support for a previously published report of low levels of recombination in X. parietina, which stands in contrast to statements of obligate homothallism in that species.
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| 18. |
- Lindblom, Louise
(författare)
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The genus Xanthoria (Fr.) Th.Fr. in North America
- 1997
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The lichenized ascomycete genus Xanthoria (Fr.) Th.Fr. (Teloschistaceae) in continental United States and Canada is revised. The following 15 species are recognized: Xanthoria borealis, X. candelaria, X. concinna, X. elegans, X. fallax, X. fulva, X. hasseana, X. mendozae, X. montana, X. oregana, X. parietina, X. polycarpa, X. sorediata, X. tenax, and X. ulophyllodes. The morphology, anatomy, secondary chemistry, ecology, and distribution of these species is discussed. A key for the identification of the species is presented together with distribution maps and illustrations of all species. Two taxa are described as new: Xanthoria montana and X. tenax. In addition to the newly described species, X. concinna and X. mendozae are reported for the first time from the study area. A number of taxa are reduced into synonymy and all names treated are typified.
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| 19. |
- Lättman, Håkan, et al.
(författare)
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Estimating the dispersal capacity of the rare lichen Cliostomum corrugatum
- 2009
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Ingår i: Biological Conservation. - : Elsevier BV. - 0006-3207 .- 1873-2917. ; 142:8, s. 1870-1878
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Forskningsöversikt (refereegranskat)abstract
- The objective of this study was to estimate the dispersal rate in an organism assumed to be confined totree stands with unbroken continuity. We used the lichen-forming ascomycete Cliostomum corrugatum,which is largely confined to old oak stands. Five populations, with pairwise distances ranging from 6.5to 83 km, were sampled in Östergötland, south-eastern Sweden. DNA sequence data from an intron inthe small subunit nuclear ribosomal RNA gene was obtained from 85 samples. Nearly all molecular variance(99.6%) was found within populations and there were no signs of isolation-by-distance. The absolutenumber of immigrants per population per generation (estimated to 30 years), inferred by BayesianMCMC, was found to be between 1 and 5. Altogether, evidence suggests abundant gene flow in the historyof our sample. A simulation procedure demonstrated that we cannot know whether effective dispersal isongoing or if it ceased at the time when oaks started to decrease dramatically around 400 years BP. However,a scenario where effective dispersal ceased already at the time when the postglacial reinvasion ofoak had reached the region around 6000 years BP is unlikely. Vegetation history suggests that the habitatof C. corrugatum was patchily distributed in the landscape since the early Holocene. Combined with thehigh dispersal rate estimate, this suggests that the species has been successful at frequently crossing distancesof at least several kilometres and possibly that it has primarily been limited by the availability ofhabitat rather than by dispersal.
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| 20. |
- Mattsson, Jan-Eric, 1949-, et al.
(författare)
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Genetic diversity and substrate preferences in Hypogymnia physodes in northern Europe
- 2006
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Genetic variation in lichens has mainly been examined in rare or threatened species or species with an otherwise fragmented geographical distribution. The main objectives have often been to compare the diversity between populations in relation to nature conservation issues. In addition, most studied species are sexual reproductive and, hence, produce small spores which may disperse over long distances. More common species have usually been neglected, although they are more easily collected, both because collecting results in a comparatively small disturbance of the populations and because they occur in a larger selection of habitats. Here we present a study on the genetic variation in the lichenized ascomycete Hypogymnia physodes in Northern Europe based on nrDNA data. The species was selected as it probably is the most common lichen in the area, it is corticolous, found on almost all woody plants in most habitats, and has a predominantly asexual dispersal mode. The material was collected in Estonia, Finland, and Sweden as a part of a larger project aiming at identifying localities with high biodiversity of interest for nature conservation projects. We examined the correlations between genetic diversity and substrate ecology as well as spatial distances. An important result is the large genetic variation within a mainly asexual lichen species. The results also show genetic similarity between specimens from similar substrates.
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| 21. |
- Mattsson, Jan-Eric, et al.
(författare)
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Genetic variation in relation to substratum preferences of Hypogymnia physodes
- 2009
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Ingår i: The Lichenologist. - 0024-2829 .- 1096-1135. ; 41, s. 547-555
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variability and its relationship to substratum preferences within and among populations of the sorediate foliose lichen Hypogymnia physodes was investigated using sequence variation in the complete nrDNA internal transcribed spacer (ITS) region. A few samples of the putatively closely related, sorediate, H. tubulosa were also included. Samples were collected from each tree species in study sites in Estonia, Finland, and Sweden. In total, DNA sequences from 104 individuals of H. physodes and 16 of H. tubulosa were obtained. A group I intron situated at the end of the small subunit (SSU) of the nrDNA was detected in both species. Within-species variability was observed in both species: fifteen haplotypes were found for H. physodes and seven for H. tubulosa for the combined alignment of the intron and the ITS. Possible recombination within the total gene fragment was detected and hence the different regions (intron, ITS1, 5.8S, ITS2) were analysed separately. They show a different degree of variability both between each other and between the species. The number of haplotypes of H. physodes in the four regions are 5, 5, 1, and 5 and for H. tubulosa 5, 2, 1 and 2, respectively. A statistical parsimony estimation resulted in two unconnected networks; one containing all the samples of H. physodes and one containing all H. tubulosa samples. It was not possible to show different potentials of the different haplotypes for establishment on different substrata as the network of H. physodes indicates recombination within the ITS region which may be frequent enough to make this primarily clonally reproducing species to behave like a sexual species.
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| 22. |
- Mavaddat, Nasim, et al.
(författare)
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Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
- 2015
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 107:5, s. 036-036
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Tidskriftsartikel (refereegranskat)abstract
- Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.
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| 23. |
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| 24. |
- Picelli, Simone, et al.
(författare)
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Common variants in human CRC genes as low-risk alleles
- 2010
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Ingår i: European Journal of Cancer. - : Elsevier BV. - 0959-8049 .- 1879-0852. ; 46:6, s. 1041-1048
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Tidskriftsartikel (refereegranskat)abstract
- The genetic susceptibility to colorectal cancer (CRC) has been estimated to be around 35% and yet high-penetrance germline mutations found so far explain less than 5% of all cases. Much of the remaining variations could be due to the co-inheritance of multiple low penetrant variants. The identification of all the susceptibility alleles could have public health relevance in the near future. To test the hypothesis that what are considered polymorphisms in human CRC genes could constitute low-risk alleles, we selected eight common SNPs for a pilot association study in 1785 cases and 1722 controls. One SNP, rs3219489:G>C (MUTYH Q324H) seemed to confer an increased risk of rectal cancer in homozygous status (OR = 1.52; CI = 1.06-2.17). When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI = 1.02-1.60) and 1.34 (CI = 1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect. The latter, in particular showed an odds ratio of 0.76 (CI = 0.60-0.97) among colon patients and 0.73 (CI = 0.56-0.95) among rectal patients. In conclusion, our study suggests that common variants in human CRC genes could constitute low-risk alleles. (C) 2010 Elsevier Ltd. All rights reserved.
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