Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals
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Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. / Xu, Huixin; Zhen, Qi; Bai, Mingzhou; Fang, Lin; Zhang, Yong; Li, Bao; Ge, Huiyao; Moon, Sunjin; Chen, Weiwei; Fu, Wenqing; Xu, Qiongqiong; Zhou, Yuwen; Yu, Yafeng; Lin, Long; Yong, Liang; Zhang, Tao; Chen, Shirui; Liu, Siyang; Zhang, Hui; Chen, Ruoyan; Cao, Lu; Zhang, Yuanwei; Zhang, Ruixue; Yang, Huanjie; Hu, Xia; Akey, Joshua M.; Jin, Xin; Sun, Liangdan.
In: Genome Research, Vol. 31, No. 7, 2021, p. 1150-1158.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals
AU - Xu, Huixin
AU - Zhen, Qi
AU - Bai, Mingzhou
AU - Fang, Lin
AU - Zhang, Yong
AU - Li, Bao
AU - Ge, Huiyao
AU - Moon, Sunjin
AU - Chen, Weiwei
AU - Fu, Wenqing
AU - Xu, Qiongqiong
AU - Zhou, Yuwen
AU - Yu, Yafeng
AU - Lin, Long
AU - Yong, Liang
AU - Zhang, Tao
AU - Chen, Shirui
AU - Liu, Siyang
AU - Zhang, Hui
AU - Chen, Ruoyan
AU - Cao, Lu
AU - Zhang, Yuanwei
AU - Zhang, Ruixue
AU - Yang, Huanjie
AU - Hu, Xia
AU - Akey, Joshua M.
AU - Jin, Xin
AU - Sun, Liangdan
PY - 2021
Y1 - 2021
N2 - Protein-truncating variants (PTVs) have important impacts on phenotype diversity and disease. However, their population genetics characteristics in more globally diverse populations are not well defined. Here, we describe patterns of PTVs in 1320 genes sequenced in 10,539 healthy controls and 9434 patients with psoriasis, all of Han Chinese ancestry. We identify 8720 PTVs, of which 77% are novel, and estimate 88% of all PTVs are deleterious and subject to purifying selection. Furthermore, we show that individuals with psoriasis have a significantly higher burden of PTVs compared to controls (P = 0.02). Finally, we identified 18 PTVs in 14 genes with unusually high levels of population differentiation, consistent with the action of local adaptation. Our study provides insights into patterns and consequences of PTVs.
AB - Protein-truncating variants (PTVs) have important impacts on phenotype diversity and disease. However, their population genetics characteristics in more globally diverse populations are not well defined. Here, we describe patterns of PTVs in 1320 genes sequenced in 10,539 healthy controls and 9434 patients with psoriasis, all of Han Chinese ancestry. We identify 8720 PTVs, of which 77% are novel, and estimate 88% of all PTVs are deleterious and subject to purifying selection. Furthermore, we show that individuals with psoriasis have a significantly higher burden of PTVs compared to controls (P = 0.02). Finally, we identified 18 PTVs in 14 genes with unusually high levels of population differentiation, consistent with the action of local adaptation. Our study provides insights into patterns and consequences of PTVs.
KW - NATURAL-SELECTION
KW - ASSOCIATION
KW - POPULATION
KW - FRAMEWORK
KW - MUTATION
KW - DATABASE
KW - GENOMES
KW - HUMANS
KW - BURDEN
KW - MAP
U2 - 10.1101/gr.267963.120
DO - 10.1101/gr.267963.120
M3 - Journal article
C2 - 34155038
VL - 31
SP - 1150
EP - 1158
JO - Genome Research
JF - Genome Research
SN - 1088-9051
IS - 7
ER -
ID: 276951243