|asthma and atopic dermatitis|rs2303067
|?|| (A;A) (A;G) (G;G) ||28|
, a SNP in the SPINK5
gene, has been significantly associated with susceptibility to atopic dermatitis
. [PMID 11544479
The risk allele for rs2303067 is (A).
rs2303067 has also been associated with predisposition to asthma, [PMID 15005725]. From this study:
"A significant association between rs2303067 and the development of asthma was observed (OR 1.77; 95%CI: 1.02-3.06, P=0.041 for rs2303067(A;A) homozygotes). Atopic carriers of rs2303067 showed an increased risk for asthma and asthma symptoms (OR 2.06; 95%CI: 1.01-4.20, P=0.047). When children with a combination of asthma and atopic dermatitis were compared with normal controls, the rs2303067(A) genotype was more prevalent in the disease group (OR 4.56; 95%CI: 1.370-15.12, P=0.007)."
| Disease Association
|| Defects in SPINK5 are the cause of Netherton syndrome (NS) (MIM:256500). NS is a severe autosomal recessive disorder, it is characterized by congenital ichthyosis with defective cornification, a specific hair shaft defect known as trichorrexis invaginata or ""bamboo hair"", atopic dermatitis, and hayfever. High post-natal mortality is due to failure to thrive, infections and hypernatraemic dehydration.
[PMID 16519819] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[PMID 18704161] Genetic variation in an individual human exome.
[PMID 18774391] Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.
|| not reviewed
|| Insufficiently evaluated not reviewed