1型糖尿病与自身免疫性甲状腺疾病的遗传学

Genetics of type 1 diabetes and autoimmune thyroid disease.

作者信息

Pearce Simon H S, Merriman Tony R

机构信息

Institute of Human Genetics, University of Newcastle, International Centre for Life, Newcastle upon Tyne, UK.

出版信息

Endocrinol Metab Clin North Am. 2009 Jun;38(2):289-301, vii-viii. doi: 10.1016/j.ecl.2009.01.012.

DOI:10.1016/j.ecl.2009.01.012

PMID:19328412

Abstract

The search for the susceptibility alleles for the complex genetic conditions of type 1 diabetes and autoimmune thyroid diseases has gained momentum in recent years. Studies have revealed several novel disease susceptibility alleles of relevance to both conditions, which brings the total number of genetic variants contributing to type 1 diabetes to ten. Additional genetic loci remain to be discovered, particularly in the autoimmune thyroid diseases. In the future, the density and coverage of single nucleotide polymorphisms available for high throughput genotyping will improve, and detailed analysis of the role of copy number variants in these diseases will shed new light on the pathogenesis of these common endocrinopathies.

摘要

近年来，对1型糖尿病和自身免疫性甲状腺疾病等复杂遗传病症的易感等位基因的研究力度不断加大。研究已经揭示了与这两种病症相关的几个新的疾病易感等位基因，这使得导致1型糖尿病的遗传变异总数达到了10个。其他遗传位点仍有待发现，尤其是在自身免疫性甲状腺疾病方面。未来，可用于高通量基因分型的单核苷酸多态性的密度和覆盖范围将会提高，对这些疾病中拷贝数变异作用的详细分析将为这些常见内分泌疾病的发病机制带来新的认识。