Association Study of Serotonin Transporter SLC6A4 Gene with Chinese Han Irritable Bowel SyndromeReport as inadecuate

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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.


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.


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 X2 = 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.


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.

Author: Jing Yuan , ChuanYuan Kang , Min Wang, Qiang Wang, PeiKai Li, Hua Liu, Yu Hou, Ping Su, Fan Yang, YuJun Wei, JianZhong Yang



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