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Sökning: WFRF:(Kontula Kimmo)

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1.
  • Aalto-Setälä, Katriina, et al. (författare)
  • Genetic risk factors and ischemic cerebrovascular disease : role of common variation of the genes encoding apolipoproteins and angiotensin-converting enzyme
  • 1998
  • Ingår i: Annals of Medicine. - 0785-3890 .- 1365-2060. ; 30:2, s. 224-33
  • Tidskriftsartikel (refereegranskat)abstract
    • DNA polymorphisms in genes encoding apolipoproteins (apo) A-I, C-III, B and E and angiotensin-converting enzyme (ACE) have been proposed to be associated with the risk of coronary artery disease (CAD). We studied whether the same genetic markers would also be associated with the occurrence and extent of atherosclerosis in cervical arteries. DNA samples from 234 survivors of stroke or a transient ischaemic attack aged 60 years or less were examined. The presence of atherosclerosis was assessed using aortic arch angiograms. The SstI polymorphism of apoA-I/C-III gene locus, the XbaI polymorphism of apoB gene, common apoE phenotypes and the insertion/deletion polymorphism of the ACE gene were analysed. The allele frequencies of the apoA-I/C-III, apoB, apoE or ACE gene did not differ between the groups with (n = 148) or without (n = 85) cervical atherosclerosis. However, when patients with at least one apoE4 allele and one X2 allele of apoB were combined and compared with those without either of them (E2E3 or E3E3 and X1X1), a significant association with the presence of cervical atherosclerosis was found (P = 0.03). The patients having the E2E3 phenotype had a significantly elevated serum triglyceride level compared with those with the E3E3 phenotype (P = 0.03). Serum high-density lipoprotein (HDL) cholesterol was lower in the patients with the E2E3 phenotype than in those with the E3E3 and E3E4 (P = 0.01 and P = 0.06, respectively). The apoB or ACE genotypes were not significantly associated with serum lipid or lipoprotein levels. There was no association between the ACE gene polymorphism and the occurrence of hypertension. In conclusion, the interaction of common apoB and apoE alleles may increase the risk of atherosclerosis in cervical arteries.
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2.
  • Chittani, Martina, et al. (författare)
  • TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives.
  • 2015
  • Ingår i: Journal of Hypertension. - 1473-5598. ; 33:6, s. 1301-1309
  • Tidskriftsartikel (refereegranskat)abstract
    • Thiazide diuretics have been recommended as a first-line antihypertensive treatment, although the choice of 'the right drug in the individual essential hypertensive patient' remains still empirical. Essential hypertension is a complex, polygenic disease derived from the interaction of patient's genetic background with the environment. Pharmacogenomics could be a useful tool to pinpoint gene variants involved in antihypertensive drug response, thus optimizing therapeutic advantages and minimizing side effects.
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3.
  • Einarsdottir, Elisabet, et al. (författare)
  • IL23R in the Swedish, Finnish, Hungarian and Italian populations : association with IBD and psoriasis, and linkage to celiac disease
  • 2009
  • Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 10:8
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases.METHODS: We studied association of single-nucleotide variants in IL23R with IBD in Swedish patients, in both Crohn's disease (CD) and ulcerative colitis (UC) subsets. The same genetic variants were also studied in Finnish patients with psoriasis or celiac disease, and in Hungarian and Italian patients with celiac disease.RESULTS: Association of IL23R with IBD was replicated in our Swedish patients, and linkage and association of the IL23R region with psoriasis was found in the Finnish population. The IL23R region was also linked to celiac disease in Finnish families, but no association of IL23R variants with celiac disease was found in the Finnish, Hungarian or Italian samples.CONCLUSION: Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. It is also the first study to report linkage and association of the IL23R region with psoriasis in the Finnish population. Importantly, this is the first report of linkage of the IL23R region to celiac disease, a chronic inflammatory condition in which IL23R has not been previously implicated.
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4.
  • Rivas, Manuel A., et al. (författare)
  • A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
  • 2016
  • Ingår i: Nature Communications. - London, United Kingdom : Nature Publishing Group. - 2041-1723. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
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5.
  • Ruskeeniemi, Timo, et al. (författare)
  • Subglacial permafrost evidencing re-advance of the Greenland Ice Sheet over frozen ground
  • 2018
  • Ingår i: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791 .- 1873-457X. ; 199, s. 174-187
  • Tidskriftsartikel (refereegranskat)abstract
    • Greenland Ice Sheet (GrIS) covers an area of 1.7 million km(2). It has been an important source of climate information and the air temperature history of Greenland is well known. However, the thermal history and temperature conditions of the Greenland bedrock are poorly known. There are only few records on the temperature of the proglacial bedrock and no records on bedrock temperature underneath the ice sheet. The Greenland Analogue Project (GAP) recently investigated hydrological, hydrogeological and geochemical processes in Kangerlussuaq, West Greenland. Because permafrost has a major hydrological impact in Arctic regions, the cryogenic structure of the bedrock was an important research topic. From previous studies it was already known that Kangerlussuaq is located within the zone of continuous permafrost. Temperature profiling in a new research borehole, extending horizontally 30 m underneath the ice sheet, revealed that permafrost is 350 m deep at the ice margin. This result raised the question how far the permafrost extends under the ice sheet? In order to investigate the thermal properties, we made a series of electromagnetic (EM) soundings at the ice margin area - on proglacial area and on the ice sheet - and detected, that subglacial permafrost extends at least 2 km from the ice margin to inland. We also observed a patchy unfrozen sediment layer between the ice and the frozen bedrock. Possible existence of subglacial sediments and their role in ice dynamics has been debated in many recent papers. Our successful campaign shows that geophysics can be used for bedrock investigations through thick ice, which is known to be challenging for electromagnetic methods. Our results provide the first direct evidence supporting the proposed Holocene ice re-advance over frozen ground, and contribute to the discussion on the rapid climate changes in past, to the future of the ice sheet under warming climate and hydrogeology at the ice margin.
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6.
  • Turner, Stephen T., et al. (författare)
  • Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide
  • 2013
  • Ingår i: Hypertension. - 1524-4563. ; 62:2, s. 391-397
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify novel genes influencing blood pressure response to thiazide diuretic therapy for hypertension, we conducted genome-wide association meta-analyses of approximate to 1.1 million single-nucleotide polymorphisms in a combined sample of 424 European Americans with primary hypertension treated with hydrochlorothiazide from the Pharmacogenomic Evaluation of Antihypertensive Responses study (n=228) and the Genetic Epidemiology of Responses to Antihypertensive study (n=196). Polymorphisms associated with blood pressure response at P<10(-5) were tested for replication of the associations in independent samples of hydrochlorothiazide-treated European hypertensives. The rs16960228 polymorphism in protein kinase C, replicated for same-direction association with diastolic blood pressure response in the Nordic Diltiazem study (n=420) and the Genetics of Drug Responsiveness in Essential Hypertension study (n=206), and the combined 4-study meta-analysis P value achieved genome-wide significance (P=3.3x10(-8)). Systolic or diastolic blood pressure responses were consistently greater in carriers of the rs16960228 A allele than in GG homozygotes (>4/4 mm Hg) across study samples. The rs2273359 polymorphism in the GNAS-EDN3 region also replicated for same-direction association with systolic blood pressure response in the Nordic Diltiazem study, and the combined 3-study meta-analysis P value approached genome-wide significance (P=5.5x10(-8)). The findings document clinically important effects of genetic variation at novel loci on blood pressure response to a thiazide diuretic, which may be a basis for individualization of antihypertensive drug therapy and identification of new drug targets.
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7.
  • von Hertzen, Leena, et al. (författare)
  • Helsinki alert of biodiversity and health
  • 2015
  • Ingår i: Annals of Medicine. - : Informa UK Limited. - 1365-2060 .- 0785-3890. ; 47:3, s. 218-225
  • Forskningsöversikt (refereegranskat)abstract
    • Urban living in built environments, combined with the use of processed water and food, may not provide the microbial stimulation necessary for a balanced development of immune function. Many chronic inflammatory disorders, including allergic, autoimmune, metabolic, and even some behavioural disorders, are linked to alteration in the human commensal microbiota. Sedentary lifestyle is associated with reduced exposure to a broad spectrum of environmental micro-organisms and surplus energy balance, both risk factors of chronic inflammatory disorders. According to the Biodiversity Hypothesis, an environment with diverse macrobiota and microbiota modifies and enriches the human microbiota, which in turn is crucial in the development and maintenance of appropriate immune function. These issues were discussed in the symposium 'Chronic Inflammation, Lifestyle and Environment ', held in Helsinki, 20 - 22 August 2014, under the sponsorship of the Yrjo Jahnsson Foundation. This paper briefly outlines the recent findings in the context of the environment, lifestyle, and health; discusses the forces that undermine immune tolerance in urban environments; and highlights the possibilities to restore broken immune tolerance among urban dwellers, summarizing the main messages in four statements and calling for actions to combat major public health threats.
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8.
  • Zucchelli, Marco, et al. (författare)
  • PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease
  • 2009
  • Ingår i: Inflammatory Bowel Diseases. - : Oxford University Press (OUP). - 1078-0998 .- 1536-4844. ; 15:10, s. 1562-1569
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Human polymorphisms affecting gut epithelial barrier and interactions with bacteria predispose to the inflammatory bowel diseases (IBD) Crohn's disease (CD) and ulcerative colitis (UC). The intestinal transporter PepT1, encoded by the SLC15A1 gene, mediates intracellular uptake of bacterial products that can induce inflammation and NF-kappaB activation upon binding to NOD2, a protein often mutated in CD. Hence, we tested SLC15A1 polymorphisms for association with IBD.METHODS: Twelve SLC15A1 single nucleotide polymorphisms (SNPs) were genotyped in 1783 individuals from 2 cohorts of Swedish and Finnish IBD patients and controls. An in vitro system was set up to evaluate the potential impact of SLC15A1 polymorphism on PepT1 transporter function by quantification of NOD2-mediated activation of NF-kappaB.RESULTS: The common allele (C) of a coding polymorphism (rs2297322, Ser117Asn) was associated with CD susceptibility both in Sweden and in Finland, but with genetic effects in opposite directions (risk and protection, respectively). The best evidence of association was found in both populations when the analysis was performed on individuals not carrying NOD2 common risk alleles (Sweden allelic P = 0.0007, OR 1.97, 95% confidence interval [CI] 1.34-2.92; Finland genotype P = 0.0013, OR 0.63, 95% CI 0.44-0.90). The PepT1 variant encoded by the C allele (PepT1-Ser117) was associated with reduced signaling downstream of NOD2 (P < 0.0001 compared to Pept1-Asn117).CONCLUSIONS: A functional polymorphism in the SLC15A1 gene might be of relevance to inflammation and antibacterial responses in IBD. Whether this polymorphism truly contributes to disease susceptibility needs to be further addressed, and should stimulate additional studies in other populations.
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