Human-SARS-CoV-2 interactome and human genetic diversity: TMPRSS2-rs2070788, associated with severe influenza, and its population genetics caveats in Native Americans.
Human-SARS-CoV-2 interactome and human genetic diversity: TMPRSS2-rs2070788, associated with severe influenza, and its population genetics caveats in Native Americans.
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DOI：
10.1590/1678-4685-gmb-2020-0484
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发表时间：
2021
影响因子：
2.1
通讯作者：
Rodrigues-Soares F
中科院分区：
文献类型：
--
作者：
Kehdy FSG;Pita-Oliveira M;Scudeler MM;Torres-Loureiro S;Zolini C;Moreira R;Michelin LA;Alvim I;Silva-Carvalho C;Furlan VC;Aquino MM;Santolalla ML;Borda V;Soares-Souza GB;Jaramillo-Valverde L;Vasquez-Dominguez A;Neira CS;Aguiar RS;Verdugo RA;O Connor TD;Guio H;Tarazona-Santos E;Leal TP;Rodrigues-Soares F
对于人/SARS- cov -2相互作用组基因ACE2、TMPRSS2和BSG，有令人信服的证据表明，亚洲人与流感诱导的SARS与TMPRSS2-rs2070788 （eQTL rs383510的标签snp）有关。这个案例说明了群体遗传学和测序数据在不同人群遗传关联研究设计中的重要性：rs2070788和rs383510之间的高连锁不平衡（LD）是亚洲特有的。利用印第安人的基因分型和测序数据（在遗传学研究中被忽视），我们发现，虽然他们的亚洲标签- snp rs2070788的频率令人惊讶地是世界上最高的，但它并不与eQTL rs383510在LD中，因此，在具有印第安血统的人群的SARS遗传关联研究中，应该直接进行基因分型。
For human/SARS-CoV-2 interactome genes ACE2, TMPRSS2 and BSG, there is a convincing evidence of association in Asians with influenza-induced SARS for TMPRSS2-rs2070788, tag-SNP of the eQTL rs383510. This case illustrates the importance of population genetics and of sequencing data in the design of genetic association studies in different human populations: the high linkage disequilibrium (LD) between rs2070788 and rs383510 is Asian-specific. Leveraging on a combination of genotyping and sequencing data for Native Americans (neglected in genetic studies), we show that while their frequencies of the Asian tag-SNP rs2070788 is, surprisingly, the highest worldwide, it is not in LD with the eQTL rs383510, that therefore, should be directly genotyped in genetic association studies of SARS in populations with Native American ancestry.
影响因子：
4.4
作者：
Bosch E;Laayouni H;Morcillo-Suarez C;Casals F;Moreno-Estrada A;Ferrer-Admetlla A;Gardner M;Rosa A;Navarro A;Comas D;Graffelman J;Calafell F;Bertranpetit J
通讯作者：
Bertranpetit J