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グレリン遺伝子多型と脳梗塞との関連
Association Between Ghrelin Gene Polymorphism and Cerebral Infarction.
PMID: 32667288 DOI: 10.12659/MSM.924539.
抄録
背景 本研究の目的は、rs26312、rs26802、rs27647 のグレリン遺伝子多型と脳梗塞との関連を調べることであった。材料・方法 当院の脳梗塞患者200名を疾患群として登録し，200名の健常者を対照群として登録した．両群から末梢静脈血を採取し，核球中のグレリン遺伝子多型（rs26312，rs26802，rs27647）をシークエンシングにより検出した．結果 グレリン遺伝子座 rs26802 および rs27647 の遺伝子型分布は、疾患群と対照群で有意に異なっていた。また、グレリン遺伝子座 rs26802 における劣性モデルの分布は、対照群とは異なり、TG+GG の頻度は明らかに疾患群の方が高かった。また、グレリン遺伝子座 rs26312 の AA 遺伝子型は、グレリン遺伝子発現レベルとの関連性が顕著であり、疾患群のグレリン遺伝子発現レベルは対照群に比べて著しく低かった。グレリン遺伝子遺伝子座の遺伝子型は活性化部分トロンボプラスチン時間（APTT）と関連しており、GG遺伝子型の患者ではAPTTが有意に短くなっていた。グレリン遺伝子座 rs26802 の遺伝子型は D-ダイマーと関連しており、TG 遺伝子型の患者では D-ダイマー値が有意に低かった。また、グレリン遺伝子座 rs27647 の遺伝子型はプロトロンビン時間（PT）と関連しており、TT 遺伝子型の患者では明らかに PT が短くなっていた。結論 グレリン遺伝子多型は脳梗塞の発症と顕著な関連があることが示唆された。
BACKGROUND The aim of this study was to explore the associations of ghrelin gene polymorphisms at rs26312, rs26802 and rs27647 with cerebral infarction. MATERIAL AND METHODS A total of 200 cerebral infarction patients in our hospital were enrolled as the disease group, while 200 healthy people were enrolled as the control group. Peripheral venous blood was collected from both groups, and the ghrelin gene polymorphisms at rs26312, rs26802, and rs27647 in nucleated cells were detected through sequencing. RESULTS The genotype distribution at ghrelin gene loci rs26802 and rs27647 in the disease group was significantly different from that in the control group. The distribution of recessive model at ghrelin gene locus rs26802 in the disease group was different from that in the control group, in which the TG+GG frequency was evidently higher in the disease group. The AA genotype at ghrelin gene locus rs26312 was remarkably associated with the ghrelin gene expression level, and the expression level of ghrelin gene in the disease group was remarkably lower than that in the control group. The genotype at ghrelin gene locus rs26312 was associated with activated partial thromboplastin time (APTT), and APTT was significantly shorter in patients with GG genotype. The genotype at ghrelin gene locus rs26802 was associated with D-dimer, and the D-dimer level was significantly lower in patients with TG genotype. The genotype at ghrelin gene locus rs27647 was associated with prothrombin time (PT), and PT was obviously shorter in patients with TT genotype. CONCLUSIONS The ghrelin gene polymorphisms are remarkably associated with the occurrence of cerebral infarction.