First Department of Medicine, Hokkaido University School of Medicine, Kita-15 Nishi-7 Kita-Ku, Sapporo 060-8638, Japan.
Immunogenetics. 2009 Dec;61(11-12):731-8. doi: 10.1007/s00251-009-0403-x. Epub 2009 Nov 10.
Mannose receptor is a member of the C-type lectin receptor family involved in pathogen molecular pattern recognition and thought to be critical in shaping host immune responses and maintaining homeostasis. The aim of this study was to investigate potential associations of genetic variants in the MRC1 gene with asthma in two independent populations. Seven single-nucleotide polymorphisms (SNPs; rs2477637, rs2253120, rs2477631, rs2477664, rs692527, rs1926736, and rs691005) in the MRC1 gene locus were genotyped and evaluated regarding association with asthma in 870 unrelated Japanese subjects (446 asthmatics, 424 controls). The same markers were validated in 176 unrelated African-American subjects (86 asthmatics, 90 controls). Suggestive evidence of association between five SNPs (rs2477637, rs2253120, rs2477664, rs692527, and rs1926736) and asthma was observed in the analysis of the Japanese population independent of sex, age, smoking status, and atopic status. SNPs rs692527 and rs691005 showed significant association with asthma in the African-American population. Haplotypes containing two linked SNPs (rs692527 and rs1926736) were significantly associated with asthma in both Japanese and African-American populations. Our results suggest that sequence variations in the MRC1 gene are associated with the development of asthma in two independent and ethnically diverse populations.
甘露糖受体是 C 型凝集素受体家族的一员，参与病原体分子模式识别，被认为在塑造宿主免疫反应和维持内稳态方面至关重要。本研究旨在探讨 MRC1 基因中的遗传变异与两个独立人群哮喘之间的潜在关联。在 870 名无关的日本个体（446 名哮喘患者，424 名对照）中，对 MRC1 基因座中的 7 个单核苷酸多态性（SNP；rs2477637、rs2253120、rs2477631、rs2477664、rs692527、rs1926736 和 rs691005）进行了基因分型，并评估了它们与哮喘的关联。在 176 名无关的非裔美国人个体（86 名哮喘患者，90 名对照）中验证了相同的标记物。在对日本人群的分析中，除了性别、年龄、吸烟状况和特应性状况之外，五个 SNP（rs2477637、rs2253120、rs2477664、rs692527 和 rs1926736）与哮喘之间存在关联的证据具有提示性。SNP rs692527 和 rs691005 与非裔美国人哮喘显著相关。在日本和非裔美国人人群中，包含两个连锁 SNP（rs692527 和 rs1926736）的单倍型与哮喘显著相关。我们的研究结果表明，MRC1 基因中的序列变异与两个独立的、种族多样化的人群中哮喘的发生有关。
