Association of vitamin D-related genetic variations and the susceptibility among Thai children with biliary atresia

Kanjaporn  Sirisomboonlarp; Natthaya  Chuaypen; Sittisak  Honsawek; Palittiya  Sintusek; Voranush  Chongsrisawat; Pisit  Tangkijvanich

Authors

Kanjaporn Sirisomboonlarp Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Natthaya Chuaypen Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Sittisak Honsawek Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Palittiya Sintusek Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Voranush Chongsrisawat Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Pisit Tangkijvanich Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

Keywords:

Biliary atresia, single nucleotide polymorphism, genetic variants, vitamin D, chronic liver diseases

Abstract

Background: Vitamin D deficiency is commonly found in children with biliary atresia (BA). Single nucleotide polymorphisms (SNPs) in vitamin D-related genes are linked to circulating vitamin D levels in various chronic liver diseases.

Objective: This study aimed to investigate whether vitamin D related SNPs were associated with disease susceptibility and clinical manifestations in Thai children with BA.

Methods: DNA specimens from 85 Thai children with BA and 90 age and gender matched healthy controls were genotyped for DHCR7 rs12800438, CYP2R1 rs10741657 and GC rs7041 using TaqMan polymerase chain reactions.

Results: The frequency of the T allele of GC rs7041 was significantly higher in children with BA compared with healthy controls (OR = 1.67, 95% CI = 1.06 - 2.64, P = 0.028). Similarly, the frequencies of GT+TT genotypes of GC rs7041 were significantly higher in the BA group than the control group (OR = 1.88, 95% CI = 1.03 - 3.42, P = 0.040). The genotype distributions and allele frequencies of DHCR7 rs12800438, CYP2R1 rs10741657 were not different between groups. All these SNPs were not related to baseline clinical parameters including ALT level, jaundice and liver stiffness measured by transient elastography.

Conclusion: The GC rs7041 variant had significantly higher prevalence among BA patients than healthy individuals, indicating its potential role that might contribute to the susceptibility of BA. Thus, identification of the SNP genotype might serve as a predictive parameter for assessing the likelihood of BA in children.

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