Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.
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.
1 Institute for Molecular Biology and Biophysics , Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk, Russia .
Elena G
EG
Komova
Alexandra B
AB
Shintyapina
Svetlana I
SI
Makarova
Mikhail K
MK
Ivanov
Elena A
EA
Chekryga
Larisa F
LF
Kaznacheeva
Valentin A
VA
Vavilin
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion; D012800:Siberia / Q000453:epidemiology
C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins