Pediatrics international : official journal of the Japan Pediatric Society · 2026
Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.
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Chu Chieh-Yu, Tai Chi-San, Hsu Chien-Ting, Chang Kai-Chi, Chen Huey-Ling, Ni Yen-Hsuan, Chang Mei-Hwei, Wu Jia-Feng
Аннотация
BACKGROUND: Biliary atresia (BA) is the leading cause of pediatric liver transplantation worldwide. However, the genetic background remains unclear in most patients. In this genome-wide association study (GWAS), we aimed to identify genetic loci that contribute to susceptibility to BA.
METHODS: We recruited 189 BA patients (85 males and 104 females) and 558 non-BA controls (275 males and 283 females) for this GWAS analysis using the Axiom Genome-Wide TWB 2.0 Array with 686,463 single-nucleotide polymorphisms (SNPs). The MassARRAY Sequenom analysis was then applied to validate the identified top SNPs.
RESULTS: We identified rs139120621 (odds ratio [OR] = 17.31, p = 2.78 × 10-9) at 8q22.1, which is mapped to the FLJ46284 gene, significantly correlated with BA in this Taiwanese cohort. The rs113128512 located at chromosome 4q32.1 (OR = 9.13, p = 1.30 × 10-6), and rs11193325 (OR = 1.85, p = 8.20 × 10-6) at 10q25.1 are also associated with BA. The rs113128512 is mapped to the PDGFC gene, and rs11193325 is downstream of the SORCS1 gene.
CONCLUSIONS: We identified novel loci of BA susceptibility SNPs in a Taiwanese cohort by the GWAS analysis. These findings shed light on the genetic factors in the pathophysiology of BA that might be applied to the future development of therapeutic agents for BA patients.
METHODS: We recruited 189 BA patients (85 males and 104 females) and 558 non-BA controls (275 males and 283 females) for this GWAS analysis using the Axiom Genome-Wide TWB 2.0 Array with 686,463 single-nucleotide polymorphisms (SNPs). The MassARRAY Sequenom analysis was then applied to validate the identified top SNPs.
RESULTS: We identified rs139120621 (odds ratio [OR] = 17.31, p = 2.78 × 10-9) at 8q22.1, which is mapped to the FLJ46284 gene, significantly correlated with BA in this Taiwanese cohort. The rs113128512 located at chromosome 4q32.1 (OR = 9.13, p = 1.30 × 10-6), and rs11193325 (OR = 1.85, p = 8.20 × 10-6) at 10q25.1 are also associated with BA. The rs113128512 is mapped to the PDGFC gene, and rs11193325 is downstream of the SORCS1 gene.
CONCLUSIONS: We identified novel loci of BA susceptibility SNPs in a Taiwanese cohort by the GWAS analysis. These findings shed light on the genetic factors in the pathophysiology of BA that might be applied to the future development of therapeutic agents for BA patients.