Literature DB >> 25390410

Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.

Elena G Komova1, Alexandra B Shintyapina, Svetlana I Makarova, Mikhail K Ivanov, Elena A Chekryga, Larisa F Kaznacheeva, Valentin A Vavilin.   

Abstract

We determined the frequencies of null mutations of the FLG gene--2282del4, R501X, R2447X, 3702delG, S3247X, and the 12-repeat allele (rs12730241)--among 460 Caucasians of the city of Novosibirsk, Russia. The frequency was 17.7% for rs12730241, 2.73% for 2282del4, 0.22% for R501X, 0.33% for R2447X, and 0% for 3702delG and S3247X in a western Siberian population. A case-control study showed that the deletion 2282del4 was associated with atopic dermatitis in children (odds ratio 7.01; p<0.001). The other mutations were not.

Entities:  

Mesh:

Substances:

Year:  2014        PMID: 25390410     DOI: 10.1089/gtmb.2014.0247

Source DB:  PubMed          Journal:  Genet Test Mol Biomarkers        ISSN: 1945-0257


  1 in total

Review 1.  Revisiting the Roles of Filaggrin in Atopic Dermatitis.

Authors:  Verena Moosbrugger-Martinz; Corinne Leprince; Marie-Claire Méchin; Michel Simon; Stefan Blunder; Robert Gruber; Sandrine Dubrac
Journal:  Int J Mol Sci       Date:  2022-05-10       Impact factor: 6.208

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.