Is there are relationship between polymorphisms TSHR gene frequencies and genetic ancestry markers in patients with Primary Congenital Hypothyroidism?
Erik Artur Cortinhas-Alves; Victor Henrique Botelho Lourenço; Andreza Juliana Moreira da Costa; Ney Pereira Carneiro dos Santos; Leiliane Cruz Reis; Luiz Carlos Santana da Silva · 2025 · Genetics and Molecular Biology
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Abstract
ABSTRACT 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
Abstract by Erik Artur Cortinhas-Alves; Victor Henrique Botelho Lourenço; Andreza Juliana Moreira da Costa; Ney Pereira Carneiro dos Santos; Leiliane Cruz Reis; Luiz Carlos Santana da Silva, Genetics and Molecular Biology (2025) — licensed CC BY 4.0.
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Metadata source: DOAJ · DOI 10.1590/1678-4685-gmb-2024-0147