Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia.

Objective: Thyroid diseases are among the most common endocrinopathies and metabolic disorders. Hypothyroidism is caused by insufficient production of thyroid hormones with a higher prevalence in women. Causes for the development of endocrine diseases may be mutations in genes that encode peptide hormones. The aim of this scientific study was to determine the genotype and allele frequencies of the rs104893657 variant of the PAX8 gene and to determine the genotype versus phenotype association.

Methods: The study population consisted of 135 women from northeastern Slovakia who were divided on the basis of screening into two groups: a control group without diagnosed hypothyroidism (CG = 67) and a group of women with hypothyroidism (HY = 68). Biochemical markers - thyroid-stimulating hormone (TSH), prealbumin (PREA), calcium (Ca), phosphorus (P), and alkaline phosphatase (ALP) were determined using Cobas Integra 400 plus, Cobas e411 analysers (Roche). Genotyping was performed using TaqMan SNP Genotyping Assay instrument 7500 Fast Real-Time PCR Systems (Applied Biosystem).

Results: Student's t-test revealed a statistically significant difference between CG and HY in biochemical parameters: TSH (p < 0.001), P (p = 0.008). By Chi-square test we found no statistically significant difference in the representation of genotypes (p = 0.788) in the rs104893657 polymorphism of PAX8 gene. The T allele was not associated with hypothyroidism in Slovak women (p = 0.548). In CC genotype we found statistically significant difference between CG and HY in parameters TSH (p < 0.001) and P (p = 0.006).

Conclusion: The mutant T allele was detected at low frequency in both groups of women studied. The association of the T allele with the development of hypothyroidism in Slovak women was not confirmed. The results of this work provide initial information on the distribution of genotypes and alleles in the studied variant of PAX8 gene in the Slovak female population.