Association between colony-stimulating factor 1 receptor gene polymorphisms and asthma risk

• DOI: 10.1007/s00439-010-0850-3
• Publication Date: 2010-06-23T04:02:31Z
• Authors: Eun Kyong Shin; Shin-Hwa Lee; Sung-Hwan Cho; Seok Jung; Sang Hyuk Yoon; Sung Woo Park; Jong Sook Park; Soo Taek Uh; Yang Ki Kim; Yong Hoon Kim; Jae-Sung Choi; Byung-Lae Park; Hyoung Doo Shin; Choon-Sik Park
• Keywords: SNP; Minor allele frequency

Colony-stimulating factor 1 receptor (CSF1R) is expressed in monocytes/macrophages and dendritic cells. These cells play important roles the innate immune response, which regarded as an aspect of asthma development. Genetic alterations CSF1R gene may contribute to development asthma. We investigated whether polymorphisms were associated with risk Through direct DNA sequencing gene, we identified 28 single nucleotide (SNPs) genotyped them 303 normal controls 498 asthmatic patients. Expression protein mRNA measured on CD14-positive monocytes neutrophils peripheral blood patients using flow cytometry real-time PCR. Among polymorphisms, two intronic polymorphism (+20511C>T +22693T>C) by logistic regression analysis. The frequencies minor allele at +20511C>T +22693T>C higher subjects than (4.6 vs. 7.7%, p = 0.001 co-dominant dominant models; 16.4 25.8%, 0.0006 a recessive model). levels having +22693CC those +22693TT (p 0.026). Asthmatic also showed significantly expression did 0.045 0.044). SNP had no association or expression. In conclusion, have susceptibility effect asthma, via increased inflammatory