A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang.

ABSTRACT:

Background

Cretinism is a subtype of congenital hypothyroidism, an endocrine disorder resulting from inadequate thyroid hormone production or receptor deficiency. Genetic abnormalities play a major role in the development of thyroid dysfunction.

Methods

We recruited 183 participants with cretinism and 119 healthy participants from the Xinjiang Uyghur Autonomous Region and randomly selected 29 tag single nucleotide polymorphisms (tSNPs) in TSHB, PAX8, TPO, NKX2-5, and TSHR in all participants. We compared genotype and allele frequencies between cases and controls utilizing the chi-squared test, logistic regression analysis, and haplotype analysis.

Results

Using the chi-squared test, a single SNP was found to be associated with cretinism (recessive model:

SUBMITTER: Huang J 

PROVIDER: S-EPMC10460608 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature