کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8645187 | 1569777 | 2018 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genome-wide association study in ethnic Russians suggests an association of the MHC class III genomic region with the risk of primary varicose veins
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کلمات کلیدی
CEAPSMRMAFSNPsAssociation - اتحادیهRussians - روس هاcharge - شارژLinkage disequilibrium - عدم تعادل پیوستگیminor allele frequency - فراوانی آللی جزئیMHC - مجموعه سازگاری بافتی اصلیmajor histocompatibility complex - مجموعه سازگاری بافتی اصلیGenome-wide association study - مطالعه مرتبط با ژنومGWAS - مطالعهٔ همخوانی سراسر ژنومodds ratio - نسبت شانس هاHEIDI - هدیPrimary varicose veins - واریس اولیه وریدVaricose veins - واریس سیاهرگهاpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازSingle nucleotide polymorphisms - پلیمورفیسم تک نوکلئوتیدیGenetics - ژنتیک
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Heredity is a well-known risk factor for varicose veins, but genetic basis of this condition remains poorly studied. Our aim was to conduct a large-scale genetic association study for primary varicose veins (PVVs) in the population of ethnic Russians. An initial scan using Illumina HumanExome-12 v1.0 BeadChip was performed for 273 patients with PVVs and 250 controls without a history of chronic venous disease and other venous disorders. After quality control and removal of monomorphic markers, 25,424 common and 48,232 rare variants were included in the analysis. 42 single nucleotide polymorphisms (SNPs) were genotyped in the independent replication cohort of 447 PVVs patients and 443 controls. Association of common variants with PVVs was investigated by logistic regression, and the impact of rare variants was analyzed using sequence kernel association test. No effect of low frequency alleles has been revealed in our study. Common variant analysis identified a promising signal at chromosome 6 within classical major histocompatibility complex (MHC) class III subregion. The most strongly associated SNP in a combined analysis that reached a suggestive significance level of 3.2eâ05 was polymorphism rs4151657 in the complement factor B gene. Testing for potential pleiotropy with other traits indicated that the same causal variant in this region increases the risk of rheumatoid arthritis and has a negative impact on human height. Our results provide suggestive evidence for the involvement of the MHC class III genes in the pathogenesis of PVVs. Further independent studies are needed to confirm our pilot findings.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 659, 15 June 2018, Pages 93-99
Journal: Gene - Volume 659, 15 June 2018, Pages 93-99
نویسندگان
Alexandra Shadrina, Yakov Tsepilov, Ekaterina Sokolova, Mariya Smetanina, Elena Voronina, Eugene Pakhomov, Kseniya Sevost'ianova, Andrey Shevela, Evgeny Ilyukhin, Evgeny Seliverstov, Igor Zolotukhin, Maxim Filipenko,