Risk association of the nitric oxide synthase VNTR intron 4 a/b variant with diabetic nephropathy - a pilot study

Swathy Moorthy; Teena Koshy

doi:10.1080/15257770.2024.2317411

Risk association of the nitric oxide synthase VNTR intron 4 a/b variant with diabetic nephropathy - a pilot study

Nucleosides Nucleotides Nucleic Acids. 2024 Feb 15:1-10. doi: 10.1080/15257770.2024.2317411. Online ahead of print.

Authors

Swathy Moorthy¹, Teena Koshy²

Affiliations

¹ Department of General Medicine, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, India.
² Department of Human Genetics, Sri Ramachandra Faculty of Biomedical Science and Technology, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, India.

PMID: 38359337
DOI: 10.1080/15257770.2024.2317411

Abstract

Diabetic nephropathy (DN) is known to be a leading complication of type 2 diabetes mellitus (T2D). This study evaluated whether the VNTR intron 4 a/b and rs1799983 polymorphisms of endothelial-derived nitric oxide synthase (eNOS) gene modulated the risk of developing DN in Asian Indian patients. The eNOS variants were genotyped in 200 patients, 100 with DN and 100 without DN. A significant risk association was observed for the VNTR intron 4 a/b (p < 0.05). Haplotype analysis revealed that the allele combination of rs1799983894 G/Intron 4b and rs1799983894 T/Intron 4b had a statistically significant inverse association with DN.

Keywords: Asian Indian; VNTR intron 4 a/b; endothelial-derived nitric oxide synthase; haplotype analysis; rs1799983.