A review on association of genetic polymorphism with thyroid hormone level leading to different diseases

Abstract

The study delved into the investigation of CYP27B1 hydroxylase, a vital enzyme responsible for converting 25-hydroxyvitamin D3 (25OHD3) into 1,25(OH)2D3, the most potent natural form of vitamin D crucial for immune modulation and cellular proliferation. Its association with autoimmune endocrine disorders such as Toxic Multinodular Goiter, Hashimoto’s thyroiditis, Graves’ disease, Asthma, and Iodothyronine was the primary focus. Genotyping analyses were conducted on patients diagnosed with Toxic Multinodular Goiter (n = 124), Hashimoto’s thyroiditis (n = 139), Graves’ disease (n = 334), Asthma (n = 252), Iodothyronine, alongside a healthy control group (n = 320). The analysis targeted two specific genetic variations, the promoter (21260) C/A polymorphism and the intron 6 (þ2838) C/T polymorphism. The results revealed significant associations between allelic variations of the promoter (21260) C/A polymorphism and the mentioned disorders (P = 0.0062 for Toxic Multinodular Goiter, P = 0.0173 for Hashimoto’s thyroiditis, P = 0.0094 for Graves’ disease, and P = 0.0028 for Asthma). Additionally, a notable distinction was observed for the intron 6 (þ2838) C/T polymorphism (P = 0.0058), particularly in Hashimoto’s thyroiditis. These findings suggest diverse regulatory influences of the CYP27B1 hydroxylase gene, potentially contributing to susceptibility to a range of endocrine autoimmune disorders.