Genotype Dataset of CYP27A1, CYP2R1, and GC Variants in Kazakhstani Patients with Type 2 Diabetes and Normoglycemic Controls for Diabetic Kidney Disease Risk Assessment

Published: 26 June 2025| Version 1 | DOI: 10.17632/9ts2bjjrbs.1
Contributors:
, Kuralay Atageldiyeva, Antonio Sarría-Santamera

Description

Given vitamin D’s roles in glucose metabolism and renal function, the study investigated associations between common variants in vitamin D pathway genes (CYP27A1, CYP2R1, GC) and diabetic kidney disease (DKD) risk. This case-control study included individuals with type 2 diabetes, both with and without DKD, as well as normoglycemic healthy controls. Four single nucleotide polymorphisms (SNPs) in the CYP27A1 (rs17470271), CYP2R1 (rs1074165), and GC (rs4588 and rs7041) were genotyped using real-time PCR with defined clusters. These findings suggest that individual variants in vitamin D pathway genes may serve as potential genetic markers for DKD risk stratification. In addition, haplotype analysis may offer complementary insight into genetic contributions to disease susceptibility.

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Institutions

  • Nazarbayev University

Categories

Endocrinology, Nephrology, Polymorphism, Human Genomics, Diabetology

Funders

  • Science Committee of the Ministry of Science and Higher Education of the Republic of Kazakhstan
    Grant ID: AP19676488

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