Komova, Elena G., Shintyapina, Alexandra B., Makarova, Svetlana I., Ivanov, Mikhail K., Chekryga, Elena A., Kaznacheeva, Larisa F., and Vavilin, Valentin A.
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. [ABSTRACT FROM AUTHOR]