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Nat Genet. 2014 Jan;46(1):45-50. doi: 10.1038/ng.2827. Epub 2013 Nov 10.

A large-scale screen for coding variants predisposing to psoriasis.

Author information

  • 11] Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China. [2].
  • 21] BGI-Shenzhen, Shenzhen, China. [2] School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China. [3].
  • 31] BGI-Shenzhen, Shenzhen, China. [2].
  • 4BGI-Shenzhen, Shenzhen, China.
  • 5Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China.
  • 6Department of Dermatology, Jining No. 1 People's Hospital, Jining, Shandong, China.
  • 7Department of Dermatology, Second Hospital, Chengdu, China.
  • 8Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, China.
  • 9Department of Dermatology, Affiliated Hospital of Inner Mongolia Medical College, Huhehot, China.
  • 10Department of Dermatology, Peking University People's Hospital, Beijing, China.
  • 11State Key Laboratory of Molecular Oncology, Cancer Institute & Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College and Center of Basic Medical Sciences, Navy General Hospital, Beijing, China.
  • 12Department of Dermatology, Second Affiliated Hospital of Harbin Medical University, Harbin, China.
  • 13Department of Dermatology, Third People's Hospital of Hangzhou, Hangzhou, China.
  • 14Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
  • 15School of Life Sciences, Peking University, Beijing, China.
  • 16Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.
  • 17Institute of Biophysics of the Chinese Academy of Sciences, Beijing, China.
  • 181] BGI-Shenzhen, Shenzhen, China. [2] Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark. [3] Department of Biology, University of Copenhagen, Copenhagen, Denmark.
  • 191] Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China. [2] Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.

Abstract

To explore the contribution of functional coding variants to psoriasis, we analyzed nonsynonymous single-nucleotide variants (SNVs) across the genome by exome sequencing in 781 psoriasis cases and 676 controls and through follow-up validation in 1,326 candidate genes by targeted sequencing in 9,946 psoriasis cases and 9,906 controls from the Chinese population. We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance. Rare missense SNVs in FUT2 and TARBP1 were also observed with suggestive evidence of association. Single-variant and gene-based association analyses of nonsynonymous SNVs did not identify newly associated genes for psoriasis in the regions subjected to targeted resequencing. This suggests that coding variants in the 1,326 targeted genes contribute only a limited fraction of the overall genetic risk for psoriasis.

PMID:
24212883
[PubMed - indexed for MEDLINE]
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