Recent progress in identification of candidate genes of Graves' disease / 中华内分泌代谢杂志

ABSTRACT

Intensive but quite chaotic and decentralized candidate gene studies on susceptibility to Graves' disease ( GD ) carried out in small size population in the past half century have provided a quantity of inconsistent data,which,however,resulted in finding of a proven association of GD with the MHC class Ⅱ region that exerts a major effect on the genetics of GD.Using low-resolution microsatellite-based human genome-wide linkage analysis,several regions of linkage harboring putative susceptibility variants but no gene susceptibility to GD were identified.Further,high throughput genotyping of large population cohorts with help of high dense panels of single nucleotide polymorphisms (SNPs) and application of advanced tools for analysis of extended blocks of linkage disequilibrium within a candidate gene ( tagging SNP,etc.) have found several genes susceptible to GD,including immune-related genes such as MHC,CTLA4,SCGB3A2/UGRP1,FCRL3,and thyroid specific genes ( such as TSHR,etc.).Less consistent results have been obtained in cases of PTPN22 and thyroglobulin.In the nearest future,implementation of even more robust technology such as genome-whole associated analysis (GWAS) and whole-genome re-sequencing are expected to catch more genes susceptibilities to GD.