Association of Vitamin D Receptor Gene Polymorphisms with Metabolic Syndrome in Chinese Children

Int J Gen Med. 2021 Jan 12:14:57-66. doi: 10.2147/IJGM.S287205. eCollection 2021.

Abstract

Purpose: To investigate the association between vitamin D receptor (VDR) gene polymorphisms and vitamin D deficiency, overweightness/obesity, and metabolic syndrome (MetS) in a cohort of Han children residing in Hangzhou, China.

Patients and methods: This study assessed 106 overweight/obese and 86 healthy (control) children. Five single-nucleotide polymorphisms (SNPs) in the VDR gene, namely, TaqI (rs731236 T > C), ApaI (rs7975232 C > A), BsmI (rs1544410 G > A), FokI (rs2228570 G >A), and Cdx2 (rs11568820 G > A), were genotyped by sequencing the total polymerase chain reaction products. The distributions of different genotypes and alleles were compared among different groups.

Results: The serum 25-hydroxyvitamin D (25(OH)D) concentration was significantly lower in overweight/obese children, while the AA genotype of ApaI SNP exhibited higher frequencies in the overweight/obese group than in the control. Furthermore, children with the ApaI AA genotype showed higher levels of Glu-60min, Glu-90min, Glu-120min and triglyceride. The AA genotype of FokI SNP was significantly associated with MetS. However, no association was observed between the five VDR SNPs and the risk of vitamin D deficiency.

Conclusion: VDR ApaI polymorphisms appear to be correlated with overweightness/obesity and glucose intolerance. FokI polymorphisms may be linked to a higher susceptibility toward MetS in Chinese children.

Keywords: 25-hydroxyvitamin D; adiposity; allele frequencies; genotype; glucose intolerance.

Grants and funding

This study was supported by the Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians (No. PEGRF-ZM-20171001) and the Medical Health Science and Technology Project of the Hangzhou Health Commission (No. A20200556).