title: Common genetic variants of GPC1 gene reduce risk of biliary atresia in a Chinese population.
abstract: BACKGROUND
  Biliary atresia (BA) is a major neonatal cholestatic disease and main indication for pediatric liver transplantation in the world. Recently, GPC1 has been implicated as a risk gene for BA by genetic studies and follow-up functional experiments on zebrafish.
  
  
  METHODS
  Two common genetic variants of GPC1, rs2292832 and rs3828336, were selected systematically through 'SNPinfo', and were examined using TaqMan Genotyping Assays for association studies in a Chinese population containing 134 cases and 618 controls.
  
  
  RESULTS
  Of the two single nucleotide polymorphisms (SNPs), we found a significantly decreased BA risk associated with rs2292832 (additive model: OR=0.638, 95% CI: 0.467-0.873, P=0.005), and a marginal effect for rs3828336 (heterozygous model: OR=0.564, 95% CI: 0.312-1.020, P=0.058). The haplotype analysis indicated that either Crs2292832-Crs3828336&Trs3828336 or Trs2292832-Trs3828336 conferred a protective effect from BA (OR=0.569, 95% CI=0.414-0.783, P<0.001; OR=0.528, 95% CI: 0.301-0.926, P=0.026). Moreover, bioinformatics analysis suggested that rs2292832 altered GPC1 expression via effect on transcription-factor-binding sites (TFBS) of upstream binding transcription factor (UBTF), as a regulatory DNA variation in Deoxyribonuclease I (DNase I) hypersensitive sites (DHSs).
  
  
  CONCLUSIONS
  Common variants of GPC1 gene were genetically involved in BA risk.
authors.affiliation: Department of General Surgery, Shenzhen Children Hospital, Shenzhen, China; State Key Laboratory of Environment Health (Incubation), MOE (Ministry of Education) Key Laboratory of Environment & Health, Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan), and Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Juntao
authors.initials: J
authors.lastname: Ke
authors.affiliation: Department of General Surgery, Shenzhen Children Hospital, Shenzhen, China.
authors.forename: Shuaidan
authors.initials: S
authors.lastname: Zeng
authors.affiliation: Department of General Surgery, Shenzhen Children Hospital, Shenzhen, China.
authors.forename: Jianxiong
authors.initials: J
authors.lastname: Mao
authors.affiliation: Department of General Surgery, Shenzhen Children Hospital, Shenzhen, China.
authors.forename: Jianyao
authors.initials: J
authors.lastname: Wang
authors.affiliation: State Key Laboratory of Environment Health (Incubation), MOE (Ministry of Education) Key Laboratory of Environment & Health, Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan), and Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Jiao
authors.initials: J
authors.lastname: Lou
authors.affiliation: State Key Laboratory of Environment Health (Incubation), MOE (Ministry of Education) Key Laboratory of Environment & Health, Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan), and Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Jiaoyuan
authors.initials: J
authors.lastname: Li
authors.affiliation: State Key Laboratory of Environment Health (Incubation), MOE (Ministry of Education) Key Laboratory of Environment & Health, Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan), and Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Xueqin
authors.initials: X
authors.lastname: Chen
authors.affiliation: State Key Laboratory of Environment Health (Incubation), MOE (Ministry of Education) Key Laboratory of Environment & Health, Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan), and Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Liu
authors.affiliation: Department of Pediatric Surgery, BaYi Children's hospital, The military general hospital of Beijing, Beijing, China. Electronic address: surhlm@126.com.
authors.forename: Liu-Ming
authors.initials: LM
authors.lastname: Huang
authors.affiliation: Department of General Surgery, Shenzhen Children Hospital, Shenzhen, China. Electronic address: szwb1967@126.com.
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.affiliation: Department of General Surgery, Shenzhen Children Hospital, Shenzhen, China. Electronic address: liulei3322@aliyun.com.
authors.forename: Lei
authors.initials: L
authors.lastname: Liu
mesh_terms: D001656:Biliary Atresia / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D053673:Glypicans / Q000235:genetics* / Q000378:metabolism; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D053673:Glypicans; D004247:DNA
keywords: Biliary atresia; Chinese population; Common genetic variants; GPC1