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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations
Qin, Zixin; Huang, Teng; Guo, Maoni; Wang, San Ming
2022-09-01
Source PublicationLife Science Alliance
ISSN2575-1077
Volume5Issue:9
Abstract

Deleterious variants in DNA damage repair (DDR) system can cause genome instability and increase cancer risk. In this study, we analyzed the deleterious variants in DDR system in 16 ethnic human populations. From the genetic variants in 169 DDR genes involved in nine DDR pathways collected from 158,612 individuals of different ethnic background, we identified 1,781 deleterious variants in 81 DDR genes in eight DDR pathways (https://genemutation.fhs.um.edu.mo/dbddrglobal/). Our analysis showed although the quantity of deleterious variants was loaded at a similar level, the landscape of the variants differed substantially among different populations that two-third of the variants were present in single ethnic populations, and the rest was mostly shared between the populations with closer geographic and genetic relationship. The highly ethnic-specific DDR deleterious variation suggests its potential relationship with different disease susceptibility in ethnic human populations.

DOI10.26508/lsa.202101319
URLView the original
Indexed BySCIE
Language英語English
WOS Research AreaLife Sciences & Biomedicine - Other Topics
WOS SubjectBiology
WOS IDWOS:000800784800001
Scopus ID2-s2.0-85130863407
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Document TypeJournal article
CollectionFaculty of Health Sciences
Corresponding AuthorWang, San Ming
AffiliationCancer Centre and Institute of Translational Medicine, Ministry of Education Frontiers Science Center for Precision Oncology, Faculty of Health Sciences, University of Macau, Macau, Macao
First Author AffilicationCancer Centre
Corresponding Author AffilicationCancer Centre
Recommended Citation
GB/T 7714
Qin, Zixin,Huang, Teng,Guo, Maoni,et al. Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations[J]. Life Science Alliance,2022,5(9).
APA Qin, Zixin,Huang, Teng,Guo, Maoni,&Wang, San Ming.(2022).Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.Life Science Alliance,5(9).
MLA Qin, Zixin,et al."Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations".Life Science Alliance 5.9(2022).
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