Chulalongkorn Medical Journal


Background: Vitamin D deficiency is commonly found in children with biliary atresia (BA). Single nucleotidepolymorphisms (SNPs) in vitamin D-related genes are linked to circulating vitamin D levels in various chronicliver diseases.Objective: This study aimed to investigate whether vitamin D related SNPs were associated with diseasesusceptibility and clinical manifestations in Thai children with BA.Methods: DNA specimens from 85 Thai children with BA and 90 age and gender matched healthy controlswere genotyped for DHCR7 rs12800438, CYP2R1 rs10741657 and GC rs7041 using TaqMan polymerase chainreactions.Results: The frequency of the T allele of GC rs7041 was significantly higher in children with BA compared withhealthy controls (OR = 1.67, 95% CI = 1.06 - 2.64, P = 0.028). Similarly, the frequencies of GT+TT genotypes ofGC 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 werenot 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 SNPgenotype might serve as a predictive parameter for assessing the likelihood of BA in children.


Faculty of Medicine, Chulalongkorn University

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