Division of Upper Gastroenterology, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan.
J Gastroenterol Hepatol. 2011 Apr;26 Suppl 3:83-7. doi: 10.1111/j.1440-1746.2011.06639.x.
Although familial clustering of functional dyspepsia (FD) has been reported, the role of genetics in the susceptibility to FD is still not well established. Several reports indicate the associations between FD and gene polymorphisms, however the data are inconsistent. This review summarized the evidence of genetics in FD based on genetic epidemiology.
Genetic association studies with FD symptom phenotype have limited for several candidate genes investigated. There have been no genome wide association studies in FD. G-protein beta3 (GNB3) subunit C825T was first reported as a candidate gene for FD susceptibility. However, the data are inconsistent in countries. Significant link between homozygous 825C allele of GNB3 protein and dyspepsia was reported from Germany and the USA. On the other hand, the association between T allele of GNB3 C825T polymorphism and dyspepsia was reported from Japan and Netherlands. Association of serotonin transporter promoter (SERT-P) gene polymorphism and FD was reported negatively from a USA community and Netherlands. However we found that SERT SL genotype was significantly associated with PDS. Involvement of IL-17F, migration inhibitory factor (MIF), catechol-o-methyltransferase (COMT) gene val158met, 779 TC of CCK-1 intron 1, cyclooxygenase-1 (COX-1), transient receptor potential cation channel, subfamily V, member 1 (TRPV1) 315C and regulated upon activation normal T cell expressed and secreted (RANTES) polymorphisms was reported in Japanese studies.
Genetic factors are associated with the development of dyspeptic symptoms. Further studies are needed to confirm these data and to determine how genetic factors influence the clinical manifestation of FD patients.
虽然功能性消化不良（FD）存在家族聚集现象，但遗传因素在 FD 易感性中的作用尚不清楚。有几项报告表明 FD 与基因多态性有关，但数据不一致。本综述基于遗传流行病学总结了 FD 遗传方面的证据。
针对几个候选基因的 FD 症状表型的遗传关联研究数量有限。尚未进行 FD 的全基因组关联研究。G 蛋白β3（GNB3）亚基 C825T 首先被报道为 FD 易感性的候选基因。然而，来自不同国家的数据并不一致。德国和美国报道了 GNB3 蛋白 825C 等位基因纯合与消化不良之间存在显著关联。另一方面，来自日本和荷兰的研究报告称 GNB3 C825T 多态性的 T 等位基因与消化不良之间存在关联。来自美国社区和荷兰的研究报告称，5-羟色胺转运体启动子（SERT-P）基因多态性与 FD 呈负相关。然而，我们发现 SERT SL 基因型与 PDS 显著相关。日本的研究报道了白细胞介素-17F（IL-17F）、迁移抑制因子（MIF）、儿茶酚-O-甲基转移酶（COMT）基因 val158met、CCK-1 内含子 1 的 779TC、环氧化酶-1（COX-1）、瞬时受体电位阳离子通道，亚家族 V，成员 1（TRPV1）315C 和调节激活正常 T 细胞表达和分泌（RANTES）多态性与 17FD 相关。
遗传因素与消化不良症状的发展有关。需要进一步的研究来证实这些数据，并确定遗传因素如何影响 FD 患者的临床表现。
