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

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

来源：BMC Medical Genetics, 2010, 11: 138.

DOI：10.1186/1471-2350-11-138

Background: 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.
Methods: 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.
Results: Statistical analyses revealed that a single nucleotide polymorphism (SNP; rs192808C > T; P = 0.0004, P(corr) = 0.0029, OR = 2.88 in co-dominant model; P = 0.0005, P(corr) = 0.0036, OR = 2.99 in dominant model) in intron and a haplotype unique to this variant (CACNG6_ BL1_ ht6; P = 0.003, P(corr) = 0.02, OR = 2.57 in co-dominant model, P = 0.001, P(corr) = 0.0087, OR = 2.81 in dominant model) were significantly associated with the risk of AIA.
Conclusions: Our results suggest that the CACNG6 variants might be associated with the risk of AIA in a Korean population.

• 出版日期2010-9-23
• 单位河北医科大学