Refined data from ancestry analysis and variant analysis of the TSHR gene.

The literature shows a correlation between ethnicity and pathogenic variants of the thyroid stimulating hormone receptor (TSHR) gene. Some of these polymorphisms may be risk factors for the development of primary congenital hypothyroidism (PCH). In this study, we investigated the relationship between the frequency of TSHR gene polymorphisms and the genetic influence of African, Amerindian, and European ancestry-informative markers in patients from an Amazonian population in Brazil who were diagnosed with PCH.

文献报道显示，种族与促甲状腺激素受体（thyroid stimulating hormone receptor, TSHR）基因的致病变异存在相关性。此类多态性中的部分位点可能是先天性原发性甲状腺功能减退症（primary congenital hypothyroidism, PCH）的发病风险因子。本研究以巴西亚马孙地区人群中确诊为PCH的患者为研究对象，探究了TSHR基因多态性的发生频率与非洲、美洲原住民及欧洲血统的祖先信息标记（ancestry-informative markers）的遗传影响之间的关联。