Taxon:

Human

Gene:

SPINK5

Chromosome:

05

Location:

5q32

Description:

A panel of families with children with atopic dermatitis (338 children total) was analysed by transmission disequilibrium for inheritance of common polymorphisms of SPINK5. Asn368 and Lys420 were shown to be significantly associated (P = 0.005 and P = 0.023) with an increased risk of atopy when maternally inherited. These alleles were further investigated in a second panel (215 offspring) which showed significant association of the maternally derived Lys420 allele with atopy, atopic dermatitis, asthma and total serum IgE (P = 0.008, 0.002, 0.012, 0.040) (Walley AJ et al, 2001).
Polymorphisms in the SPINK5 (serine protease inhibitor, kazal-type; 5) gene have been associated with atopic dermatitis in a Japanese population and inheritance is preferentially maternal (Nishio Y et al. 2003).

Category:

Other

Record:

465

Last Modified 4/30/2010

Links:

OMIM    Gene  


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