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胃溃疡患者中组胺 N-甲基转移酶的单核苷酸多态性和单倍型

Single nucleotide polymorphisms and haplotypes of histamine N-methyltransferase in patients with gastric ulcer.

作者信息

Chen G-L, Zhu B, Nie W-P, Xu Z-H, Tan Z-R, Zhou G, Liu J, Wang W, Zhou H-H

机构信息

Pharmacogenetics Research Institute, Institute of Clinical Pharmacology, Central South University, 410078 Changsha, Hunan, P.R. China.

出版信息

Inflamm Res. 2004 Sep;53(9):484-8. doi: 10.1007/s00011-004-1290-0.

Abstract

INTRODUCTION

Histamine plays a crucial role in the regulation of gastric acid secretion, which is involved in the pathogenesis of peptic ulcer. Histamine N-methyltransferase (HNMT) is the major metabolizing enzyme for histamine inactivation in human stomach.

OBJECTIVE

This study aims to determine whether there exists a relationship between HNMT gene polymorphisms and the risk for gastric ulcer (GU).

METHODS

118 GU patients and 154 ethnically matched control subjects were enrolled and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays were developed to genotype all these subjects for the T-1637C, C-411T, C314T and A1097T point mutations in HNMT gene. Haplotypes were reconstructed from the genotype data.

RESULTS

Frequencies of the variant alleles in cases and controls were 0.398 vs 0.396 for T-1637C, 0.144 vs 0.110 for C-411T, 0.034 vs 0.042 for C314T, and 0.242 vs 0.273 for A1097T, respectively, with no significant difference for any locus between the two groups (all P > 0.05). Also the frequencies of genotypes, haplotypes and haplotype pairs based on these polymorphisms did not differ significantly between cases and controls.

CONCLUSION

This study provided no evidence for the involvement of HNMT polymorphisms in the susceptibility to GU.

摘要

引言

组胺在胃酸分泌调节中起关键作用,而胃酸分泌参与消化性溃疡的发病机制。组胺N-甲基转移酶(HNMT)是人体胃中使组胺失活的主要代谢酶。

目的

本研究旨在确定HNMT基因多态性与胃溃疡(GU)风险之间是否存在关联。

方法

招募118例GU患者和154例种族匹配的对照受试者,开发聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测方法,对所有受试者的HNMT基因T-1637C、C-411T、C314T和A1097T点突变进行基因分型。从基因型数据重建单倍型。

结果

病例组和对照组中,T-1637C变异等位基因频率分别为0.398和0.396,C-411T为0.144和0.110,C314T为0.034和0.042,A1097T为0.242和0.273,两组间任何位点均无显著差异(所有P>0.05)。基于这些多态性的基因型、单倍型和单倍型对频率在病例组和对照组之间也无显著差异。

结论

本研究未提供HNMT多态性参与GU易感性的证据。

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