کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8716264 | 1587881 | 2017 | 26 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genome-Wide Analysis of Protein-Coding Variants in Leprosy
ترجمه فارسی عنوان
تجزیه و تحلیل ژنوم متنوعی از پروتئین های رمزگذاری شده در آبشش
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
امراض پوستی
چکیده انگلیسی
Although genome-wide association studies have greatly advanced our understanding of the contribution of common noncoding variants to leprosy susceptibility, protein-coding variants have not been systematically investigated. We carried out a three-stage genome-wide association study of protein-coding variants in Han Chinese, of whom were 7,048 leprosy patients and 14,398 were healthy control subjects. Seven coding variants of exome-wide significance were discovered, including two rare variants: rs145562243 in NCKIPSD (P = 1.71 à 10-9, odds ratio [OR] = 4.35) and rs149308743 in CARD9 (P = 2.09 à 10-8, OR = 4.75); three low-frequency variants: rs76418789 in IL23R (P = 1.03 à 10-10, OR = 1.36), rs146466242 in FLG (P = 3.39 à 10-12, OR = 1.45), and rs55882956 in TYK2 (P = 1.04 à 10-6, OR = 1.30); and two common variants: rs780668 in SLC29A3 (P = 2.17 à 10-9, OR = 1.14) and rs181206 in IL27 (P = 1.08 à 10-7, OR = 0.83). Discovered protein-coding variants, particularly low-frequency and rare ones, showed involvement of skin barrier and endocytosis/phagocytosis/autophagy, in addition to known innate and adaptive immunity, in the pathogenesis of leprosy, highlighting the merits of protein-coding variant studies for complex diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Investigative Dermatology - Volume 137, Issue 12, December 2017, Pages 2544-2551
Journal: Journal of Investigative Dermatology - Volume 137, Issue 12, December 2017, Pages 2544-2551
نویسندگان
Hong Liu, Zhenzhen Wang, Yi Li, Gongqi Yu, Xi'an Fu, Chuan Wang, Wenting Liu, Yongxiang Yu, Fangfang Bao, Astrid Irwanto, Jian Liu, Tongsheng Chu, Anand Kumar Andiappan, Sebastian Maurer-Stroh, Vachiranee Limviphuvadh, Honglei Wang, Zihao Mi,