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.
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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)
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Copyright | © 2023. The Author(s). |
Chemical References |
- Vitamin D
- 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
- Vitamins
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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
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