Is there are relationship between polymorphisms TSHR gene frequencies and genetic ancestry markers in patients with Primary Congenital Hypothyroidism?

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. The study was conducted on samples from 106 patients who were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSHR gene 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 (25.90 %), European (41.80 %), and African (32.20 %) ancestry. Logistic regression analysis revealed no significant association between the rs2075179 and rs1991517 polymorphisms and genetic ancestry. This study revealed no evidence of a relationship between polymorphic TSHR gene variants and genetic ancestry markers in patients with PCH.