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

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


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

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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