Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-03-11

AUTHORS

Zhengmao Hu, Zhimin Xiong, Xiaojuan Xu, Fangfang Li, Lina Lu, Wei Li, Juan Su, Yalan Liu, Deyuan Liu, Zhiguo Xie, Yu Peng, Yehong Kuang, Lisha Wu, Jianglin Zhang, Qian Pan, Beisha Tang, Xiang Chen, Kun Xia

ABSTRACT

Loss-of-function mutations in filaggrin gene (FLG; OMIM #135940) have been reported to cause the semi-dominant keratinizing disorders such as ichthyosis vulgaris (IV; OMIM #146700) and atopic dermatitis (AD; OMIM #605803). Recent linkage analysis and immunohistochemical studies suggest the possible contribution of FLG to psoriatic susceptibility. However, no susceptibility variant in FLG gene associated with psoriasis (OMIM #177900) has been identified. In this study, we identified a non-sense mutation of FLG (p.K4022X) in a Chinese psoriasis/IV coexisting family. The homozygous p.K4022X mutation was detected in a psoriasis patient, whereas the heterozygous p.K4022X mutation was identified in two IV patients and four apparently normal family members. We also genotyped p.K4022X variant in 441 sporadic Chinese psoriasis patients and found homozygous mutation in two patients, while no homozygous variant was found in 500 control individuals. After sequencing the entire coding region of FLG gene in 441 psoriasis patients, we identified another five mutations (p.R826X, p.W2583X, c.7945delA, c.3321delA and p.Q2417X). Although all six FLG mutations as a whole was not significantly associated with psoriasis (P = 0.105), mutation p.K4022X was significantly associated with psoriasis (P < 0.05). Our data thus indicates an association of FLG with psoriasis in Chinese population. More... »

PAGES

1269-1274

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-012-1155-5

DOI

http://dx.doi.org/10.1007/s00439-012-1155-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048451173

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22407025


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curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-012-1155-5'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-012-1155-5'


 

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