title: Association study of serotonin transporter SLC6A4 gene with Chinese Han irritable bowel syndrome.
abstract: OBJECTIVE
  Irritable bowel syndrome (IBS) is a common clinical gastrointestinal dysfunction disorders. 5-sertonon (5-hydroxytryptamine, 5-HT) is a very important neurotransmitter, which is involved in gastrointestinal motion and sensation. Solute carrier family 6 member 4 (SLC6A4) gene encode serotonin transporter (SERT) which function is to rapidly reuptake the most of 5-HT. Therefore, it is needed to explore the association between SLC6A4 gene polymorphisms and IBS.
  
  
  METHODS
  119 patients and 238 healthy controls were administrated to detect the SLC6A4 gene polymorphisms including 5-HT-transporter-gene-linked polymorphic region (5-HTTLPR), variable number of tandem repeats (VNTRs) and three selected tag Single Nucleotide Polymorphisms (SNPs) rs1042173, rs3794808, rs2020936 by using polymerase chain reaction (PCR) and TaqMan® SNP Genotyping.
  
  
  RESULTS
  There were significant difference for 5-HTTLPR between IBS and control groups (X2 = 106.168, P<0.0001). In control group, genotypes were mainly L/L (58.4%), however, the genotypes in IBS were S/S (37.8%). The significant difference was shown in D-IBS subjects when compared to the controls (X(2) = 50.850, P<0.0001) for 5-HTTLPR. For STin2 VNTR, rs1042173, rs3794808, and rs2020936 polymorphisms, there were no any significant differences between IBS and control groups. There were no statistical significantly haplotypes for 5-HTTLPR, VNTRs and the three SNPs between IBS and controls.
  
  
  CONCLUSIONS
  The S allele in 5-HTTLPR was a susceptible allele with Chinese Han IBS, but other associations of VNTRs, three selected Tag SNPs and positive haplotype with IBS were not found. It is indicated that much research are needed to study the relationship between other polymorphisms in SLC6A4 gene and IBS.
authors.affiliation: Clinical Psychology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yuan
authors.affiliation: Psychiatry Department, The First Affiliated Hospital of Kunming Medical University, Kunming, China.
authors.forename: ChuanYuan
authors.initials: C
authors.lastname: Kang
authors.affiliation: Gastroenterology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.affiliation: Gastroenterology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Clinical Psychology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: PeiKai
authors.initials: P
authors.lastname: Li
authors.affiliation: Department of Laboratory, The First Affiliated Hospital of Kunming Medical University, Kunming, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Liu
authors.affiliation: Clinical Psychology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Hou
authors.affiliation: Clinical Psychology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Su
authors.affiliation: Clinical Psychology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: Fan
authors.initials: F
authors.lastname: Yang
authors.affiliation: Clinical Psychology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: YuJun
authors.initials: Y
authors.lastname: Wei
authors.affiliation: Clinical Psychology Department, No. 2 People's Hospital of Yunnan Province, Kunming, China.
authors.forename: JianZhong
authors.initials: J
authors.lastname: Yang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D043183:Irritable Bowel Syndrome / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins