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

@article{Komova2014FilaggrinMI,
  title={Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.},
  author={E. G. Komova and Alexandra B Shintyapina and S. I. Makarova and Mikhail K. Ivanov and Elena A Chekryga and L. F. Kaznacheeva and V. A. Vavilin},
  journal={Genetic testing and molecular biomarkers},
  year={2014},
  volume={18 12},
  pages={
          791-6
        }
}
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… 
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