Two Variants in the NOTCH4 and HLA-C Genes Contribute to Familial Clustering of Psoriasis
Joint Authors
Cai, Minglong
Huang, He
Hu, Zhulin
Yuan, Tao
Li, Weiran
Liu, Yaoguang
Zheng, Lijun
Zhang, Yan
Sheng, Yujun
Zhang, Xuejun
Source
International Journal of Genomics
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-10-20
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Psoriasis is a multifactorial immune-mediated skin disease with a strong genetic background.
Previous studies reported that psoriasis with a family history (PFH) and sporadic psoriasis (SP) have a distinct manifestation and genetic predisposition.
However, the genetic heterogeneity of PFH and SP in the major histocompatibility complex (MHC) region has not been fully elucidated.
To explore genetic variants in the MHC region that drive family aggregation of psoriasis, we included a total of 8,127 psoriasis cases and 9,906 healthy controls from Han Chinese and divided psoriasis into two subtypes, PFH (n=1,538) and SP (n=5,262).
Then, we calculated the heritability of PFH and SP and performed a large-scale stratified association analysis.
We confirmed that variants in the MHC region collectively explained a higher heritability of PFH (16.8%) than SP (13.3%).
Further stratified association analysis illustrated that HLA-C∗06:02 and NOTCH4:G511S contribute to the family aggregation of psoriasis, and BTNL2:R281K specifically confers risk for SP.
HLA-C∗06:02 and NOTCH4:G511S could partially explain why patients with PFH have a stronger genetic predisposition, more complex phenotypes, and more frequent other autoimmune diseases.
The identification of the SP-specific variant BTNL2:R281K revealed that the genetic architecture of SP is not just a subset of PFH.
American Psychological Association (APA)
Cai, Minglong& Huang, He& Hu, Zhulin& Yuan, Tao& Li, Weiran& Liu, Yaoguang…[et al.]. 2020. Two Variants in the NOTCH4 and HLA-C Genes Contribute to Familial Clustering of Psoriasis. International Journal of Genomics،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1171292
Modern Language Association (MLA)
Cai, Minglong…[et al.]. Two Variants in the NOTCH4 and HLA-C Genes Contribute to Familial Clustering of Psoriasis. International Journal of Genomics No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1171292
American Medical Association (AMA)
Cai, Minglong& Huang, He& Hu, Zhulin& Yuan, Tao& Li, Weiran& Liu, Yaoguang…[et al.]. Two Variants in the NOTCH4 and HLA-C Genes Contribute to Familial Clustering of Psoriasis. International Journal of Genomics. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1171292
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1171292