title: Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort.
abstract: OBJECTIVE
  Recent genome-wide association studies have identified a number of inflammatory bowel diseases (IBD) susceptibility loci in White populations. The aim of our study was to evaluate whether these susceptibility loci also existed in a Chinese Han IBD population.
  
  
  METHODS
  Peripheral blood DNA samples from groups of patients with Crohn's disease (CD) (n = 48), ulcerative colitis (UC) (n = 49), and healthy controls (n = 50) were genotyped for eight genes. Then, an extended analysis of the relationship between genotype and phenotype was performed.
  
  
  RESULTS
  NOD2-P268S (P = 0.025) was found to contribute susceptibility to CD in the Chinese population. IL23R-rs11805303 was detected to confer a strong protective effect against UC (P = 0.010), whereas PTPN2-rs2542151 was significantly associated with an increased risk of UC (P = 0.001). Further phenotype-genotype analysis revealed that P268S was associated with early age of onset (P = 0.028), ileal disease (P = 0.003), and enteric cavity narrowing (P = 0.007).
  
  
  CONCLUSIONS
  The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population.
authors.affiliation: Guangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.
authors.forename: Chaolan
authors.initials: C
authors.lastname: Lv
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Yang
authors.forename: Yiyang
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xinmei
authors.initials: X
authors.lastname: Zhao
authors.forename: Zhengyan
authors.initials: Z
authors.lastname: Chen
authors.forename: Jinghua
authors.initials: J
authors.lastname: Long
authors.forename: Yingchun
authors.initials: Y
authors.lastname: Zhang
authors.forename: Changqing
authors.initials: C
authors.lastname: Zhong
authors.forename: Jia
authors.initials: J
authors.lastname: Zhi
authors.forename: Guopeng
authors.initials: G
authors.lastname: Yao
authors.forename: Bo
authors.initials: B
authors.lastname: Jiang
authors.forename: Fachao
authors.initials: F
authors.lastname: Zhi
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D054578:Protein Tyrosine Phosphatase, Non-Receptor Type 2 / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics*; D015203:Reproducibility of Results; D055815:Young Adult
chemical_list: C515500:IL23R protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D018123:Receptors, Interleukin; C516649:PTPN2 protein, human; D054578:Protein Tyrosine Phosphatase, Non-Receptor Type 2