PT  - JOURNAL ARTICLE
AU  - Zixin Qin
AU  - Teng Huang
AU  - Maoni Guo
AU  - San Ming Wang
TI  - Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations
AID  - 10.26508/lsa.202101319
DP  - 2022 Sep 01
TA  - Life Science Alliance
PG  - e202101319
VI  - 5
IP  - 9
4099  - https://www.life-science-alliance.org/content/5/9/e202101319.short
4100  - https://www.life-science-alliance.org/content/5/9/e202101319.full
SO  - Life Sci. Alliance2022 Sep 01; 5
AB  - 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/dbddr-global/). 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.