title: Association analysis of monocyte chemotactic protein-3 (MCP3) polymorphisms with asthmatic phenotypes.
abstract: The monocyte chemotactic protein-3 (MCP3), on chromosome 17q11.2-q12, is a secreted chemokine, which attracts macrophages during inflammation and metastasis. In an effort to discover additional polymorphism(s) in genes whose variant(s) have been implicated in asthma, we scrutinized the genetic polymorphisms in MCP3 to evaluate it as a potential candidate gene for asthma host genetic study. By direct DNA sequencing in twenty-four individuals, we identified four sequence variants within the 3 kb full genome including 1,000bp promoter region of MCP3; one in promoter region (-420T>C), three in intron (+136C>G, +563C>T, +984G>A) respectively. The frequencies of those four SNPs were 0.020 (-420T>C), 0.038 (+136C>G), 0.080 (+563C>T), 0.035 (+984G>A), respectively, in Korean population (n = 598). Haplotypes, their frequencies and linkage disequilibrium coefficients (|D'|) between SNP pairs were estimated. The associations with the risk of asthma, skin-test reactivity and total serum IgE levels were analyzed. Using statistical analyses for association of MCP3 polymorphisms with asthma development and asthma-related phenotypes, no significant signals were detected. In conclusion, we identified four genetic polymorphisms in the important MCP3 gene, but no significant associations of MCP3 variants with asthma phenotypes were detected. MCP3 variation/haplotype information identified in this study will provide valuable information for future association studies of other allergic diseases.
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Korea.
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Lyoung Hyo
authors.initials: LH
authors.lastname: Kim
authors.forename: Yoo Hyun
authors.initials: YH
authors.lastname: Choi
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.forename: Hae-Sim
authors.initials: HS
authors.lastname: Park
authors.forename: Soo-Jong
authors.initials: SJ
authors.lastname: Hong
authors.forename: Byoung Whui
authors.initials: BW
authors.lastname: Choi
authors.forename: June-Hyuk
authors.initials: JH
authors.lastname: Lee
authors.forename: Soo-Taek
authors.initials: ST
authors.lastname: Uh
authors.forename: Choon-Sik
authors.initials: CS
authors.lastname: Park
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001249:Asthma / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D054410:Chemokine CCL7; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D016207:Cytokines / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018945:Monocyte Chemoattractant Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012882:Skin Tests
chemical_list: C515450:CCL7 protein, human; D054410:Chemokine CCL7; D016207:Cytokines; D018945:Monocyte Chemoattractant Proteins; D007073:Immunoglobulin E