tetano
Editor, Senior Moderator
Proc Natl Acad Sci U S A
. 2022 May 24;119(21):e2123000119.
doi: 10.1073/pnas.2123000119. Epub 2022 May 17.
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection
Chao Zhang[SUP] 1 [/SUP], Anurag Verma[SUP] 1 2 [/SUP], Yuanqing Feng[SUP] 1 [/SUP], Marcelo C R Melo[SUP] 3 4 5 [/SUP], Michael McQuillan[SUP] 1 [/SUP], Matthew Hansen[SUP] 1 [/SUP], Anastasia Lucas[SUP] 1 [/SUP], Joseph Park[SUP] 1 [/SUP], Alessia Ranciaro[SUP] 1 [/SUP], Simon Thompson[SUP] 1 [/SUP], Meagan A Rubel[SUP] 1 [/SUP], Michael C Campbell[SUP] 6 [/SUP], William Beggs[SUP] 1 [/SUP], Jibril Hirbo[SUP] 7 [/SUP], Sununguko Wata Mpoloka[SUP] 8 [/SUP], Gaonyadiwe George Mokone[SUP] 9 [/SUP], Regeneron Genetic Center[SUP] 10 [/SUP]; Thomas Nyambo[SUP] 11 [/SUP], Dawit Wolde Meskel[SUP] 12 [/SUP], Gurja Belay[SUP] 12 [/SUP], Charles Fokunang[SUP] 13 [/SUP], Alfred K Njamnshi[SUP] 14 15 [/SUP], Sabah A Omar[SUP] 16 [/SUP], Scott M Williams[SUP] 17 [/SUP], Daniel J Rader[SUP] 1 [/SUP], Marylyn D Ritchie[SUP] 1 [/SUP], Cesar de la Fuente-Nunez[SUP] 3 4 5 [/SUP], Giorgio Sirugo[SUP] 2 [/SUP], Sarah A Tishkoff[SUP] 1 18 19 [/SUP]
Affiliations
Abstract
Significance Viruses are strong sources of natural selection pressure during human evolutionary history. Investigating genetic diversity and detecting signatures of natural selection at host genes related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection help to identify functionally important variation. We conducted a large study of global genomic variation at host genes that play a role in SARS-CoV-2 infection with a focus on underrepresented African populations. We identified nonsynonymous and regulatory variants at ACE2 that appear to be targets of recent natural selection in some African populations. We detected evidence of ancient adaptive evolution at TMPRSS2 in the human lineage. Genetic variants that are targets of natural selection are associated with clinical phenotypes common in patients with coronavirus disease 2019.
Keywords: African diversity; SARS-CoV-2/COVID-19; genetic variation; natural selection; phenotype association.
. 2022 May 24;119(21):e2123000119.
doi: 10.1073/pnas.2123000119. Epub 2022 May 17.
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection
Chao Zhang[SUP] 1 [/SUP], Anurag Verma[SUP] 1 2 [/SUP], Yuanqing Feng[SUP] 1 [/SUP], Marcelo C R Melo[SUP] 3 4 5 [/SUP], Michael McQuillan[SUP] 1 [/SUP], Matthew Hansen[SUP] 1 [/SUP], Anastasia Lucas[SUP] 1 [/SUP], Joseph Park[SUP] 1 [/SUP], Alessia Ranciaro[SUP] 1 [/SUP], Simon Thompson[SUP] 1 [/SUP], Meagan A Rubel[SUP] 1 [/SUP], Michael C Campbell[SUP] 6 [/SUP], William Beggs[SUP] 1 [/SUP], Jibril Hirbo[SUP] 7 [/SUP], Sununguko Wata Mpoloka[SUP] 8 [/SUP], Gaonyadiwe George Mokone[SUP] 9 [/SUP], Regeneron Genetic Center[SUP] 10 [/SUP]; Thomas Nyambo[SUP] 11 [/SUP], Dawit Wolde Meskel[SUP] 12 [/SUP], Gurja Belay[SUP] 12 [/SUP], Charles Fokunang[SUP] 13 [/SUP], Alfred K Njamnshi[SUP] 14 15 [/SUP], Sabah A Omar[SUP] 16 [/SUP], Scott M Williams[SUP] 17 [/SUP], Daniel J Rader[SUP] 1 [/SUP], Marylyn D Ritchie[SUP] 1 [/SUP], Cesar de la Fuente-Nunez[SUP] 3 4 5 [/SUP], Giorgio Sirugo[SUP] 2 [/SUP], Sarah A Tishkoff[SUP] 1 18 19 [/SUP]
Affiliations
- PMID: 35580180
- DOI: 10.1073/pnas.2123000119
Abstract
Significance Viruses are strong sources of natural selection pressure during human evolutionary history. Investigating genetic diversity and detecting signatures of natural selection at host genes related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection help to identify functionally important variation. We conducted a large study of global genomic variation at host genes that play a role in SARS-CoV-2 infection with a focus on underrepresented African populations. We identified nonsynonymous and regulatory variants at ACE2 that appear to be targets of recent natural selection in some African populations. We detected evidence of ancient adaptive evolution at TMPRSS2 in the human lineage. Genetic variants that are targets of natural selection are associated with clinical phenotypes common in patients with coronavirus disease 2019.
Keywords: African diversity; SARS-CoV-2/COVID-19; genetic variation; natural selection; phenotype association.