Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study.

Abstract

BACKGROUND:

Neonatal hyperbilirubinemia (NH) is a major cause of hospitalization after birth. Previous studies indicated that vitamin D deficiency might play an important role in NH susceptibility, but the results were controversial. Meanwhile, there has been limited description of the association between vitamin D related genes single nucleotide polymorphisms (SNP) and NH susceptibility. We aimed to investigate the vitamin D metabolic pathway genes polymorphisms and vitamin D levels with NH susceptibility.

METHODS:

We retrospectively analyzed the clinical data, vitamin D levels and its metabolic pathway gene polymorphisms of 187 NH neonates and 149 controls at Tianjin Children's Hospital/Tianjin University Children's Hospital between April 2019 and August 2022. Vitamin D levels were measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) method, and the genetic polymorphism of NADSYN1/DHCR7, GC, CYP2R1, CYP24A1 and CYP27B1 was detected by high resolution melting (HRM) analysis.

RESULTS:

The frequency of vitamin D deficiency (25(OH)D < 15 ng/mL) was significantly increased in the NH group compared to controls. TT genotype of rs12785878 and GT genotype of rs10877012 were protective factors of vitamin D deficiency and NH, and GT genotype and dominant model carriers of rs12785878 had a higher risk of severe NH than the GG genotype carriers (GT genotype: OR: 2.43; 95% CI: 1.22-4.86; P = 0.012, dominant model: OR: 1.97; 95% CI: 1.04-3.73; P = 0.037). GC gene haplotype was associated with vitamin D deficiency. No significant SNP-SNP and SNP-vitamin D levels interaction combinations were found.

CONCLUSIONS:

There were associations among NH, vitamin D deficiency and NADSYN1/DHCR7 and CYP27B1 polymorphisms, TT genotype of rs12785878 and GT genotype of rs10877012 could reduce the risk of vitamin D deficiency and NH. Furthermore, rs12785878 was significantly associated with severe NH.

• Authors: Weiwei Zhou, Ping Wang, Yanrui Bai, Ying Zhang, Jianbo Shu, Yang Liu
• Journal: BMC pediatrics (BMC Pediatr) Vol. 23 Issue 1 Pg. 275 (05 31 2023) ISSN: 1471-2431 [Electronic] England
• PMID: 37259065 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2023. The Author(s).

Chemical References

• Vitamin D
• 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
• Vitamins

Topics

• Child
• Infant, Newborn
• Humans
• Vitamin D
• Retrospective Studies
• 25-Hydroxyvitamin D3 1-alpha-Hydroxylase (genetics)
• Chromatography, Liquid
• Tandem Mass Spectrometry
• Vitamins
• Vitamin D Deficiency (complications, genetics)
• Polymorphism, Single Nucleotide
• Genotype
• Genetic Predisposition to Disease