An Association Study of Genetic Polymorphism of CTLA-4 A49G with Hypothyroidism: A Study from Central India

Background: It is known that genetic and environmental factors may influence susceptibility to Hypothyroidism and its complications. Objective: In present investigation, we conducted a case control-based genetic screening of single nucleotide polymorphisms (SNPs) loci in CTLA-4 gene with the aim to explore the relationship between the candidate SNPs and the susceptibility to hypothyroidism (HT) in central India. Design and methods: The study was carried out on a Vindhya region population of 174 patients of hypothyroidism and 200 healthy controls. Anthropometric data were collected during sample collection. A genetic polymorphism study of CTLA-4 was undertaken using a polymerase chain reaction-restriction fragment length polymorphism method and the observed genotype frequencies, allele frequencies, and carriage rates of the CTLA-4 polymorphisms were recorded. Results: The patterns of genotype and allele distribution in both groups suggested a significant association between CTLA-4 A49G minar allele G carriage (GG carriage) and hypothyroidism. Further, the results also show the protective effect of the major allele A. Body mass index was also found to be significantly higher in female and male HT patient group than in female and male healthy controls (P = 0.0001). Conclusion: Our study indicates that CTLA-4 A49G polymorphism and obesity have a strong association with hypothyroidism.