Association of glycoprotein GP130 polymorphisms (rs747379809, rs754547662) with unexplained infertility in women using TETRA-ARMS-PCR

Document Type

Article

Department

Biological and Biomedical Sciences

Abstract

Objective: To analyse the association of single-nucleotide polymorphisms in two variants of the GP130 (IL6ST) gene, rs754547662 Guanine/thymine (G/T) and rs747379809 Guanine/thymine (G/T), with unexplained infertility in women.
Study design: A case-control study. Place and Duration of the Study: Department of Physiology, University of Karachi, in collaboration with the Australian Concept of Infertility Medical Centre, from November 2020 to December 2022.
Methodology: A total of 135 females with unexplained infertility and 177 fertile women serving as controls were enrolled in the study. Genotyping was performed using Tetra-Amplification Refractory Mutation System Polymerase Chain Reaction (T-ARMS-PCR). Genomic DNA was amplified by T-ARMS-PCR, followed by agarose gel electrophoresis for the identification of the tested allele. The amplified and purified samples were sequenced via Sanger sequencing and subsequently submitted to GenBank. All statistical analyses were performed using SPSS 23. An independent t-test was used for group comparison; p < 0.05 was considered statistically significant.
Results: In the rs747379809 and rs754547662 variants of the GP130 (IL6ST) gene, only the wild-type G allele was detected in all cases and controls. The major allele G and the GG (homozygous) genotype were found in all women. The minor allele T and the GT, TT (heterozygous) genotypes were not detected in any individual. Therefore, the findings reported no observed association between GP130 (IL6ST) gene polymorphisms rs747379809 (G/T) and rs754547662 (G/T) and unexplained infertility.

Conclusion: The findings indicate that unexplained infertility is not associated with the GP130 (IL6ST) gene polymorphisms in rs747379809 and rs754547662 variants. These results suggest that variations in this signalling pathway do not contribute significantly to the aetiology of unexplained infertility in the studied population. Further research involving larger cohorts and additional molecular markers may help clarify the complex genetic landscape underlying this condition.

Publication (Name of Journal)

Journal of College of Physicians and Surgeons Pakistan

DOI

10.29271/jcpsp.2026.03.320

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