کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8645527 | 1569788 | 2018 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Fine-mapping analysis of the MHC region for vitiligo based on a new Han-MHC reference panel
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کلمات کلیدی
MAFHuman leukocyte antigen - آنتی ژن لوسکسی انسانHLA - آنتیژن گلبول سفید انسانیfine-mapping - خوب نقشه برداریLinkage 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 ژنومSingle-nucleotide polymorphism - پلی مورفیسم تک نوکلئوتیدیvitiligo - پیسی، برص، لک و پیس، ویتیلیگوSNP - چندریختی تک-نوکلئوتیدquality control - کنترل کیفیت
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Vitiligo is an immune-related disease with patchy depigmentation of skin and hair caused by selective destruction of melanocytes. In recent decades, many studies have shown the association between vitiligo and HLA genes; however, the results of Han Chinese are scarce. In this study, we performed a fine-mapping analysis of the MHC region in 2818 Han Chinese subjects through a widely used HLA imputation method with a newly built large-scale Han-MHC reference panel. Three new four-digit HLA alleles (HLA-DQB1â¯ââ¯02:02, HLA-DQA1â¯ââ¯02:01 and HLA-DPB1â¯ââ¯17:01) were identified to be associated with the risk of vitiligo, and four previously reported alleles were confirmed. Further conditional analysis revealed that two important variants, HLA-DQβ1 amino acid position 135 (ORâ¯=â¯1.79, Pâ¯=â¯1.87â¯Ãâ¯10â11) and HLA-B amino acid positions 45-46 (ORâ¯=â¯1.44, Pâ¯=â¯5.61â¯Ãâ¯10â11), conferred most of the MHC associations. Three-dimension ribbon models showed that the former is located within the β2 domain of the HLA-DQβ1 molecule, and the latter lies in the α1 domain of the HLA-B molecule, while both are involved in specific antigen presenting process. Finally, we summarized all significant signals in the MHC region to clarify their complex relationships, and 8.60% of phenotypic variance could be explained based on all reported variants in Han Chinese so far. Our findings highlight the complex genetic architecture of the MHC region for vitiligo in Han Chinese population and expand our understanding of the roles of HLA coding variants in the etiology of vitiligo.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 648, 30 March 2018, Pages 76-81
Journal: Gene - Volume 648, 30 March 2018, Pages 76-81
نویسندگان
Chao Yang, Juan Wu, Xuelei Zhang, Leilei Wen, Jingying Sun, Yuyan Cheng, Xianfa Tang, Bo Liang, Gang Chen, Fusheng Zhou, Yong Cui, Anping Zhang, Xuejun Zhang, Xiaodong Zheng, Sen Yang, Liangdan Sun,