Existe uma relação entre as frequências dos polimorfismos do gene TSHR e os marcadores de ancestralidade genética em pacientes com hipotireoidismo congênito primário?

Abstract

Literature shows a correlation between ethnicities and pathogenic variants of the receptor TSH hormone gene (TSHR). Some of these polymorphisms can be as risk factors for the development of Primary Congenital Hypothyroidism (PCH). In this study, we investigate the relationship between the frequencies of TSHR gene polymorphisms with the genetic influence of African, Amerindian, and European ancestry informative markers in patients diagnosed with PCH in an Amazonian population in Brazil. The study was conducted on samples of 106 patients diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSHR were automatically sequenced. Ancestry-Informative Marker identification was performed using a panel of 48 markers, and the results were compared with parental Amerindian, Western European, and Sub-Saharan African populations using Structure v2.3.4 software. Four nucleotide alterations were identified among 49 patients. The distribution of tested ancestry markers among the 106 patients indicated a significant difference in the percentages of Amerindian (32.2%), European (41.80%), and African (25.9%) ancestry. A logistic regression analysis revealed no significant association between the rs2075179 and rs1991517 polymorphisms and genetic ancestry. This study found no evidence of a relationship between polymorphic TSHR gene variants and genetic ancestry markers in patients with PCH.