东亚人群中常见的基因多态性使新冠病毒易感性降低。
gene polymorphism common in East Asians confers decreased COVID-19 susceptibility.
作者信息
Sekiya Takeshi, Ogura Yukino, Kai Hirayasu, Kawaguchi Atsushi, Okawa Shino, Hirohama Mikako, Kuroki Takahiro, Morii Wataru, Hara Akira, Hiramatsu Yuji, Hitomi Shigemi, Kawakami Yasushi, Arakawa Yoshihiro, Maruo Kazushi, Chiba Shigeru, Suzuki Hiromichi, Kojima Hiroshi, Tachikawa Hirokazu, Yamagata Kunihiro
机构信息
Department of Infection Biology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
出版信息
Front Microbiol. 2022 Nov 30;13:943877. doi: 10.3389/fmicb.2022.943877. eCollection 2022.
COVID-19 has a wide range of clinical presentations, and the susceptibility to SARS-CoV-2 infection and the mortality rate also vary by region and ethnicity. Here, we found that rs12329760 in the gene, a missense variant common in East Asian populations, contributes to protection against SARS-CoV-2 infection. TMPRSS2 is a protease responsible for SARS-CoV-2 entry and syncytium formation. rs12329760 (c.478G>A, p. V160M) was associated with a reduced risk of moderate symptoms. The enzymatic activity of Met-TMPRSS2 was lower than that of Val-TMPRSS2, and thus the viral entry and the syncytium formation of SARS-CoV-2 were impaired. Collectively, these results indicate that the genetic variation in , which is common in East Asians, is one of the molecular determinants of COVID-19 susceptibility.
新型冠状病毒肺炎（COVID-19）有广泛的临床表现，而且对严重急性呼吸综合征冠状病毒2（SARS-CoV-2）感染的易感性以及死亡率也因地区和种族而异。在此，我们发现基因中的rs12329760，这是一种在东亚人群中常见的错义变异，有助于预防SARS-CoV-2感染。跨膜丝氨酸蛋白酶2（TMPRSS2）是一种负责SARS-CoV-2进入和形成合胞体的蛋白酶。rs12329760（c.478G>A，p.V160M）与中度症状风险降低相关。甲硫氨酸-TMPRSS2的酶活性低于缬氨酸-TMPRSS2，因此SARS-CoV-2的病毒进入和合胞体形成受损。总体而言，这些结果表明，在东亚人中常见的该基因的遗传变异是COVID-19易感性的分子决定因素之一。
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