Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals,Genome Research

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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
Genome Research ( IF 6.2 ) Pub Date : 2021-07-01 , DOI: 10.1101/gr.267963.120
Huixin Xu _{1,

2} , Qi Zhen _{1,

3,

4,

5} , Mingzhou Bai ₁ , Lin Fang _{6,

7} , Yong Zhang _{6,

7} , Bao Li _{1,

3} , Huiyao Ge _{1,

3,

4,

5} , Sunjin Moon ₈ , Weiwei Chen _{1,

3,

4,

5} , Wenqing Fu ₉ , Qiongqiong Xu _{1,

3,

4,

5} , Yuwen Zhou ₁₀ , Yafeng Yu _{1,

3,

4,

5} , Long Lin ₁₀ , Liang Yong _{1,

3,

4,

5} , Tao Zhang ₇ , Shirui Chen _{1,

3,

4,

5} , Siyang Liu ₁₁ , Hui Zhang _{1,

3,

4,

5} , Ruoyan Chen ₁₂ , Lu Cao _{1,

3,

4,

5} , Yuanwei Zhang ₁ , Ruixue Zhang _{1,

3,

4,

5} , Huanjie Yang ₁ , Xia Hu _{1,

3,

4,

5} , Joshua M Akey ₈ , Xin Jin ₂ , Liangdan Sun _{1,

3,

4,

5}

Affiliation

Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.
School of Medicine, South China University of Technology, Guangzhou 510006, China.
Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Anhui, Hefei 230032, China.
Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei 230032, China.
Anhui Provincial Institute of Translational Medicine, Hefei 230032, China.
Guangdong Engineering Research Center of Life Sciences Bigdata, Shenzhen 518083, China.
Department of Biology, University of Copenhagen, Copenhagen 2200, Denmark.
Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey 08540, USA.
Microsoft Corporation, Redmond, Washington 98052, USA.
College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China.
School of Public Health (Shenzhen), Sun Yat-sen University, Shenzhen 510006, Guangdong, China.
The First Affiliated Hospital of Shenzhen University, Shenzhen Second People's Hospital, Shenzhen 518035, China.

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.

更新日期：2021-07-01

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