کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8958293 | 1646254 | 2018 | 12 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetic Determinants of IgA Nephropathy: Western Perspective
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کلمات کلیدی
galactose-deficient IgA1linkage analysis - تجزیه و تحلیل اتصالNext-generation sequencing - تعیین توالی نسل بعدیExome sequencing - توالی ExomeWhole genome sequencing - توالی یابی کامل ژنومcomplex traits - صفات پیچیدهGWAS - مطالعهٔ همخوانی سراسر ژنومIgA nephropathy - نفروپاتی ایمونوگلوبین آ، سندرم برگرHuman genetics - ژنتیک انسانی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای کلیوی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Summary: IgA nephropathy (IgAN) represents a genetically complex multifactorial trait. Its prevalence and clinical features vary geographically, and the disease has a range of clinical presentations that suggest multiple subtypes. Although familial aggregation of IgAN has been reported and prior linkage studies have highlighted significant locus heterogeneity, specific genetic variants underlying familial IgAN have not yet been defined. Population-based genome-wide association studies (GWAS) have discovered nearly 20 IgAN risk loci, providing novel insights into disease epidemiology and molecular mechanisms, shifting old paradigms of the disease pathogenesis. Follow-up fine-mapping studies have identified specific causal variants, and genotype-phenotype correlation studies have begun to delineate clinical consequences of GWAS risk alleles. The association between IgAN and galactose-deficient IgA1 (Gd-IgA1), a validated serum biomarker of IgAN, presented another avenue for genetic discovery because elevated serum levels of Gd-IgA1 are highly heritable. Recent GWAS for serum Gd-IgA1 levels provided novel insights into genetic regulation of this trait, but the genetic link between Gd-IgA1 and IgAN has not yet been established. In this review, we discuss these developments in the broader context of modern genetic approaches to complex traits, and provide our perspective on the critical challenges that need to be addressed to advance the field.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Nephrology - Volume 38, Issue 5, September 2018, Pages 443-454
Journal: Seminars in Nephrology - Volume 38, Issue 5, September 2018, Pages 443-454
نویسندگان
Y. Dana MS, Krzysztof MD, MS,