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  • Title: Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.
    Author: Komova EG, Shintyapina AB, Makarova SI, Ivanov MK, Chekryga EA, Kaznacheeva LF, Vavilin VA.
    Journal: Genet Test Mol Biomarkers; 2014 Dec; 18(12):791-6. PubMed ID: 25390410.
    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.
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