title: The role of the C-C chemokine receptor 2 gene polymorphism V64I (CCR2-64I) in sarcoidosis in a Japanese population.
abstract: A number of chemokines are produced by alveolar cells in the course of inflammatory reactions of sarcoidosis. C-C chemokine receptor 2 (CCR2) is a prominent receptor for the monocyte chemoattractant protein (MCP) group of C-C chemokines. A transition causing a valine to isoleucine substitution in transmembrane domain I of the CCR2 gene (CCR2-64I) that has a protective effect against the progression of human immunodeficiency virus-1 (HIV-1) disease has been described. To elucidate the role of this CCR2 polymorphism in sarcoidosis, we investigated the distribution of the CCR2-64I in 100 subjects with sarcoidosis (40.2 +/- 18.6 yr [mean +/- SD], 37:63 [male:female]) and 122 healthy control subjects (44.4 +/- 14.1 yr, 75:47). The distribution of the CCR2-64I allele was significantly different between subjects with sarcoidosis and healthy control subjects (p < 0.001). The presence of the CCR2-64I allele conferred a lower risk for the development of sarcoidosis (adjusted odds ratio = 0.369, 95% CI = 0.203 to 0.673). Our study suggests that this polymorphism may play a role in the pathogenesis of sarcoidosis, and further studies are needed to define the role of CCR2-64I.
authors.affiliation: First Department of Medicine, School of Medicine, Hokkaido University, Sapporo, Japan. nhizawa@med.hoki.dai.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Hizawa
authors.forename: E
authors.initials: E
authors.lastname: Yamaguchi
authors.forename: K
authors.initials: K
authors.lastname: Furuya
authors.forename: E
authors.initials: E
authors.lastname: Jinushi
authors.forename: A
authors.initials: A
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Kawakami
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000502:physiology*; D054390:Receptors, CCR2; D019707:Receptors, Chemokine / Q000235:genetics*; D012016:Reference Values; D012507:Sarcoidosis / Q000235:genetics*; D012727:Sex Characteristics
chemical_list: C515334:CCR2 protein, human; D054390:Receptors, CCR2; D019707:Receptors, Chemokine