| 1. |
- Rafnar, Thorunn, et al.
(författare)
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European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
- 2011
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 20:21, s. 4268-81
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Tidskriftsartikel (refereegranskat)abstract
- Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC.
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| 2. |
- Sveinsson, Olafur A., et al.
(författare)
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Clinical features of microscopic colitis in a nation-wide follow-up study in Iceland
- 2008
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Ingår i: Scandinavian Journal of Gastroenterology. - : Informa UK Limited. - 0036-5521 .- 1502-7708. ; 43:8, s. 955-960
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The long-term natural history of collagenous colitis (CC) and lymphocytic colitis (LC) is not well known. The few reports available that address these issues have a limited follow-up. The aims of this study were to evaluate the natural history of microscopic colitis (MC), to describe the treatment medications prescribed and to assess the use of non-steroidal anti-inflammatory drugs (NSAIDs) in MC. MATERIAL AND METHODS: This study is based on an earlier epidemiological study conducted in Iceland where 125 patients with MC (71 with CC and 54 with LC) were diagnosed in the period 1995-99. All patients still alive and available were questioned about symptoms, treatment and NSAID use in the 3 months preceding the interview. RESULTS: In a mean follow-up time of 6.4 years from diagnosis, 15% of the patients had diarrhoeal symptoms more than once a week, 30% less than once a week and 55% had no diarrhoea. Abdominal pain was reported in 18% of the patients. There was no statistically significant difference in symptoms of CC and LC patients. Forty-eight patients (50%) were receiving medication for MC, 16% used aminosalicylates and 14% corticosteroids. Patients using medication for MC had significantly more diarrhoeal symptoms compared with those who did not (p = 0.002). Patients using NSAIDs regularly or as required, statistically did not have more symptoms related to MC than non-NSAID users. CONCLUSIONS: Only a minority of patients with MC had diarrhoea more than once a week in a long-term follow-up and the symptom pattern was similar between CC and LC patients. The use of NSAIDs was not associated with more diarrhoeal symptoms.
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| 3. |
- Thorell, Kaisa, 1983, et al.
(författare)
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The Helicobacter pylori Genome Project: insights into H. pylori population structure from analysis of a worldwide collection of complete genomes
- 2023
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Ingår i: Nature Communications. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Helicobacter pylori, a dominant member of the gastric microbiota, shares co-evolutionary history with humans. This has led to the development of genetically distinct H. pylori subpopulations associated with the geographic origin of the host and with differential gastric disease risk. Here, we provide insights into H. pylori population structure as a part of the Helicobacter pylori Genome Project (HpGP), a multi-disciplinary initiative aimed at elucidating H. pylori pathogenesis and identifying new therapeutic targets. We collected 1011 well-characterized clinical strains from 50 countries and generated high-quality genome sequences. We analysed core genome diversity and population structure of the HpGP dataset and 255 worldwide reference genomes to outline the ancestral contribution to Eurasian, African, and American populations. We found evidence of substantial contribution of population hpNorthAsia and subpopulation hspUral in Northern European H. pylori. The genomes of H. pylori isolated from northern and southern Indigenous Americans differed in that bacteria isolated in northern Indigenous communities were more similar to North Asian H. pylori while the southern had higher relatedness to hpEastAsia. Notably, we also found a highly clonal yet geographically dispersed North American subpopulation, which is negative for the cag pathogenicity island, and present in 7% of sequenced US genomes. We expect the HpGP dataset and the corresponding strains to become a major asset for H. pylori genomics.
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| 4. |
- Vidarsdottir, Halla, et al.
(författare)
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Kirtilkrabbamein í botnlanga á islandi 1990-2009 -- lýdgrundud rannsókn
- 2011
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Ingår i: Laeknabladid. - 0023-7213. ; 97:10, s. 42-537
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Adenocarcinoma of the appendix is less than 0.5% of all gastrointestinal cancers. The aim of this study was to analyse the incidence, symptoms, pathology and treatment of appendiceal adenocarcinoma in a well defined cohort as well as the prognosis of the patients.MATERIALS AND METHODS: This is a retrospective study on all patients diagnosed with adenocarcinoma of the appendix in Iceland from 1990-2009. Information on epidemiological factors, survival and treatment was collected. All histological material was reviewed. Overall survival was estimated with median follow up of 15 months (range, 0-158).RESULTS: A total of 22 patients were diagnosed with appendiceal adenocarinoma in the study period (median age 63 yrs, range: 30-88, 50% males). Age-standardized incidence was 0.4/100,000/year. The most common symptom was abdominal pain (n=10). Eight patients had clinical signs of appendicitis. Most patients were diagnosed at operation or at pathological examination but one patient was diagnosed at autopsy. Five patients had an appendectomy and 11 a right hemicolectomy. One patient was not operated on and in three patients only a biopsy was taken. Twelve patients had chemotherapy and seven of them for metastatic disease. Eight patients had adenocarcinoma, seven mucinous adenocarcinoma, three signet ring adenocarcinoma, one mixed goblet cell carcinoid and mucinous adenocarcinoma,one mixed adenocarcinoma and signet ring adenocarcinoma and two a mucinous tumour of unknown malignant potential. In eight cases the tumor originated in adenoma. Most of the patients had a stage IV disease (n=13), three stage III, three stage II and three stage I. Operative mortality was 4.8% (n=1). Disease specific five year survival was 54% but overall five year survival was 44% respectively.CONCLUSION: Adenocarcinoma of the appendix is a rare disease. No patients were diagnosed pre-operatively. Over half of the patients presented with stage IV disease.
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