The First-Ever Investigation of SNP rs119461977 in SECISBP2/SBP2 Gene and its Implications for Hypothyroidism: A Novel Case–Control Research

• Published in: Indian journal of clinical biochemistry Vol. 40; no. 2; pp. 201 - 210
• Main Authors: Kaur, Manpreet, Tyagi, Shama, Yadav, Anita, Gupta, Ranjan
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 01.04.2025; Springer Nature B.V
• Subjects: Biochemistry; Biomedical and Life Sciences; Chemistry/Food Science; Endocrine disorders; Gene frequency; Genotypes; Genotyping; Hypothyroidism; Life Sciences; Metabolism; Microbiology; Original Research Article; Pathology; Restriction fragment length polymorphism; Selenoproteins; Single-nucleotide polymorphism; Thyroid gland; Selenocysteine insertion sequence binding 2 (SECISBP2/SBP2); Genetic model; Single nucleotide polymorphism; PCR-RFLP; Hypothyroidism
• ISSN: 0970-1915; 0974-0422
• DOI: 10.1007/s12291-024-01192-1

Hypothyroidism is one of the most prevalent endocrine disorders worldwide. Various genes are involved in thyroid hormone production, regulation, and metabolism. SBP2 is required for the adequate assembly of selenoproteins, which are further required for thyroid hormone metabolism. Present case–control study aims to investigate the association of the K438X (rs119461977) variant situated on exon 10 of the gene with biochemical parameters and hypothyroidism. Our study comprises 253 subjects, 136 healthy control (Female 70, Male 66), and 117 case hypothyroid patients (Female 81, Male 36). Biochemical parameters were estimated using an automatic analyzer. PCR-RFLP method was used for genotyping. Heterozygous and homozygous mutant genotypes are higher among the cases as compared to control and shows significant association ( p —0.0004). The frequency of minor alleles is significantly higher in cases than in control ( p —0.0018). The dominant genetic model shows a two-fold disease risk (χ 2 —6.8505, OR—2.019, 95%CI 2.2779–1.74118, p value—0.008). Recessive and additive models also suggest a significant association with hypothyroidism ( p —0.0005, 0.00066). This study indicates the novel association of rs119461977 of the SBP2 gene with hypothyroidism. This association underlines the importance of selenoproteins synthesis in the pathogenesis of hypothyroidism.