Division of Upper Gastroenterology, Department of Internal Medicine, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.
BMC Med Genet. 2011 Jun 29;12:88. doi: 10.1186/1471-2350-12-88.
Although familial clustering of functional dyspepsia (FD) has been reported, the role of genetics in the susceptibility to FD is still not well understood. In the present study, the association between serotonin transporter (SERT) gene (SLC6A4) polymorphism and FD was explored.
Subjects were divided into either a postprandial distress syndrome (PDS) group or an epigastric pain syndrome (EPS) group according to the Rome III criteria. The healthy controls were those who had visited a hospital for an annual health check-up. The presence of the SLC6A4 promoter polymorphism, 5-hydroxytryptamin transporter gene linked polymorphic region (5-HTTLPR), was then evaluated, and logistic regression analysis was used to test all variables.
The 5-HTTLPR genotype distribution was 448 SS, 174 SL, and 24 LL in controls and 30 SS, 20 SL, and 3 LL in FD subjects. No significant correlation was found between the 5-HTTLPR genotype and FD. When the genotypes and subtypes of FD were exploratory evaluated, the SL genotype was significantly associated with PDS [odds ratio (OR) = 2.24, 95% confidence interval (CI); 1.16-4.32, P = 0.034 after Bonferroni correction] compared to the SS genotype adjusted for sex and age. Comparison of the SS genotype with the SL/LL genotype also showed a significant association of genotype with PDS (OR = 2.32, 95% CI; 1.23-4.37, P = 0.009).
The present results suggest that 5-HTTLPR L allele may influence the susceptibility to PDS.
功能性消化不良(FD)家族聚集现象已有报道,但遗传因素在 FD 易感性中的作用仍不清楚。本研究旨在探讨 5-羟色胺转运体(SERT)基因(SLC6A4)多态性与 FD 的关系。
根据罗马 III 标准,受试者被分为餐后不适综合征(PDS)组或上腹疼痛综合征(EPS)组。健康对照组是因年度体检而就诊于医院的人群。然后评估 SLC6A4 启动子多态性,即 5-羟色胺转运体基因连锁多态区(5-HTTLPR),并使用 logistic 回归分析检验所有变量。
对照组 5-HTTLPR 基因型分布为 448SS、174SL 和 24LL,FD 组为 30SS、20SL 和 3LL。5-HTTLPR 基因型与 FD 无显著相关性。当对 FD 的基因型和亚型进行探索性评估时,SL 基因型与 PDS 显著相关[比值比(OR)=2.24,95%置信区间(CI);1.16-4.32,P=0.034,经 Bonferroni 校正],与 SS 基因型相比,调整了性别和年龄因素。与 SS 基因型相比,SL/LL 基因型与 PDS 也存在显著相关性(OR=2.32,95%CI;1.23-4.37,P=0.009)。
本研究结果提示 5-HTTLPR L 等位基因可能影响 PDS 的易感性。