A preliminary report to discern the association of SNPs rs1505287 and rs4858608 of THRB gene and their haplotype analysis with hypothyroidism and hyperthyroidism among Indian population: A case-control study

Thyroid hormone receptors are a subtype of nuclear receptors that are necessary for the actions of thyroid hormones and play a crucial role in regulating the negative feedback mechanism of the hypothalamus-pituitary-thyroid (HPT) axis. The thyroid hormone receptor beta (THRB) is present in two isoforms, both of which are expressed in several tissues across the body. The current study aims to demonstrate a correlation between two single nucleotide polymorphisms (SNPs), namely rs1505287 (G > A) and rs4858608 (T > G), of the THRB gene and the occurrence of hypothyroidism and hyperthyroidism among the Indian population. Additionally, the study investigates the relationship between these SNPs and their haplotypes. This study consists of a total of 350 samples, with 140 (73females,67males) being healthy controls, 120 (81females,39males) being hypothyroid patients, and 90 (59females,31males) being hyperthyroid patients. An automated analyzer was utilized to measure biochemical parameters, and the PCR-RFLP technique was employed to determine genotypes. For statistical analysis, SPSS software was utilized, and SHEsis software was employed to run a haplotype analysis. The frequency of the minor allele of rs1505287 is higher among hypothyroid patients, whereas the minor allele of rs4858608 is more common among control participants. No apparent genetic variance was seen for any of the SNPs when comparing control and hyperthyroid patients. The presence of H1 (A-T) and H4 (G-G) was shown to have a strong correlation with hypothyroidism, as indicated by the low p-values of 0.003482 and 0.003342, respectively. The study concludesthat allele G of rs4858608 is a protective factor against hypothyroidism, whereas allele A of rs1505287 is a risk factor for a susceptibility to hypothyroidism. None of them have been found to be linked with hyperthyroidism. This study implies the involvement of genetic variations of thyroid hormone receptors in thyroid disorders.