Association study of serotonin transporter SLC6A4 gene with Chinese Han irritable bowel syndrome.
Association study of serotonin transporter SLC6A4 gene with Chinese Han irritable bowel syndrome.
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5-羟色胺转运蛋白SLC6A4基因与中国汉族肠易激综合征的关联研究
DOI：
10.1371/journal.pone.0084414
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Yang J
中科院分区：
文献类型：
--
作者：
Yuan J;Kang C;Wang M;Wang Q;Li P;Liu H;Hou Y;Su P;Yang F;Wei Y;Yang J
目的肠易激综合征（IBS）是临床上常见的胃肠道功能障碍性疾病。5-5-羟色胺（5-hydroxytryptamine，5-HT）是一种重要的神经递质，参与胃肠运动和感觉。溶质载体家族6成员4（SLC 6A 4）基因编码5-羟色胺转运体（SERT），其功能是快速重摄取大部分5-HT。因此，有必要探讨SLC 6A 4基因多态性与IBS的关系。方法采用聚合酶链反应（PCR）和TaqMan® SNP基因分型技术检测119例患者和238例健康对照者的SLC 6A 4基因多态性，包括5-HT转运体基因连锁多态性区（5-HTTLPR）、可变数目串联重复序列（VNTRs）和3个选择性标签单核苷酸多态性（SNP）rs 1042173、rs3794808、rs 2020936。结果IBS患者血清5-HTTLPR水平与正常对照组比较差异有显著性（X ~ 2 = 106.168，P<0.0001）。 对照组基因型以L/L为主（58.4%），IBS组基因型以S/S为主（37.8%）。D-IBS患者5-HTTLPR与正常对照组比较差异有显著性（X ~ 2 = 50.850，P<0.0001）。 STin 2 VNTR、rs 1042173、rs3794808和rs 2020936多态性在IBS组和对照组之间无显著差异。IBS组与对照组之间5-HTTLPR、VNTRs及3个SNPs的单倍型差异无统计学意义。结论5-HTTLPR基因S等位基因是中国汉族人群IBS的易感等位基因，但未发现其他VNTRs、3个Tag SNPs和阳性单倍型与IBS的相关性，提示SLC 6A 4基因其他多态性与IBS的关系有待进一步研究。
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 (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. Conclusion 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.
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