Title: Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.

Authors: Jin Sol Lee, Jeong-Hyun Kim, Joon Seol Bae, Jason Yongha Kim, Tae Joon Park, Charisse Flerida Pasaje, Byung-Lae Park, Hyun Sub Cheong, Soo-Taek Uh, Jong-Sook Park, An-Soo Jang, Mi-Kyeong Kim, Inseon S Choi, Choon-Sik Park, Hyoung Doo Shin

Journal, date & volume: , 2010 Sep 23 , 11, 138

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20860846

Abstract
Aspirin-intolerant asthma (AIA) occurs in the lower and upper airways through excessive production of leukotrienes upon administration of non-steroidal anti-inflammatory drugs (NSAIDs). One of the three symptoms of AIA is nasal polyposis, a chronic inflammatory disease that is related to the function of calcium ion in recruitment of immune cells during airway inflammation. It has been implicated that bronchodilation in the airway is related to Ca(2+) regulation. The calcium channel, voltage-dependent, gamma subunit 6 (CACNG6) gene encodes a protein that stabilizes the calcium channel.To study the associations between AIA and polymorphisms in CACNG6 gene, eight variants were genotyped in 102 AIA cases and 429 aspirin-tolerant asthma (ATA) controls. Logistic analyses were used to evaluate the associations of CACNG6 polymorphisms with AIA.Statistical analyses revealed that a single nucleotide polymorphism (SNP; rs192808C > T; P = 0.0004, Pcorr = 0.0029, OR = 2.88 in co-dominant model; P = 0.0005, Pcorr = 0.0036, OR = 2.99 in dominant model) in intron and a haplotype unique to this variant (CACNG6_BL1_ht6; P = 0.003, Pcorr = 0.02, OR = 2.57 in co-dominant model, P = 0.001, Pcorr = 0.0087, OR = 2.81 in dominant model) were significantly associated with the risk of AIA.Our results suggest that the CACNG6 variants might be associated with the risk of AIA in a Korean population.