A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children.
Lee, JH; Kim, KW; Gee, HY; Lee, J; Lee, KH; Park, HS; Kim, SH; Kim, SW; Kim, MN; Kim, KE; Kim, KH; Lee, MG; Sohn, MH
The Journal of allergy and clinical immunology, 128(6):1326-1334.e3, 2011
The Journal of allergy and clinical immunology
BACKGROUND: Atopic diseases are the most common chronic diseases of childhood, and the genetics of atopy are complex and heterogeneous. Protease-activated receptor-2 (PAR-2) is involved in various inflammatory diseases, but the association of PAR-2 with allergic diseases remains unclear.
OBJECTIVE: To examine the contribution of genetic variation of PAR-2 to atopic phenotypes in the Korean childhood cohort.
METHODS: We identified PAR-2 variations in a Korean population and conducted association analyses by using 316 unrelated atopic and 210 nonatopic subjects. We analyzed serum IgE and total eosinophil count levels and examined PAR-2 mRNA and protein expression levels.
RESULTS: In the case-control association analysis, atopy was significantly associated with a single c.621C>T (p.I207I, rs631465) polymorphism of PAR-2 (P = .001, odds ratio = 1.95). Subjects with the c.621T risk allele had significantly higher serum IgE (P = .004) and total eosinophil count (P = .03) levels. Moreover, the positive association of c.621T was reproduced in the replication study (P = .01, joint P value of the replication T polymorphism in PAR-2 might be associated with the risk of atopy, potentially by altering PAR-2 gene expression.
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