Association study of the C3 gene with adult and childhood asthma

Hiroki Inoue, Yoichi Mashimo, Makiko Funamizu, Naoki Shimojo, Koichi Hasegawa, Tomomitsu Hirota, Satoru Doi, Makoto Kameda, Akihiko Miyatake, Yoichi Kohno, Yoshitaka Okamoto, Mayumi Tamari, Akira Hata, Yoichi Suzuki

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)


Bronchial asthma (BA) is a multifactorial disorder, the development of which is affected by both environmental and genetic factors. The complement system plays an important role in immunological response against invading microorganisms. It has been shown that complement-C3-deficient mice have reduced inflammation of asthmatic airways. Previously, we reported the association of four single nuclear proteins (SNPs) in the exons of the C3 gene with childhood and adult BA. The C3 gene, however, is a large gene, and functional SNPs associated with susceptibility to BA have not yet been identified. We analyzed 26 SNPs in the C3 gene and its promoter region to narrow down the regions showing association with childhood and adult BA. Childhood and adult atopic BA patients and healthy child and adult controls were recruited from urban cities in Japan and genotyped. In SNP analysis, an SNP (SNP24, rs11569562) located in intron 31 of the C3 gene was associated with adult BA [corrected P (P cor) = 0.030]. In linkage disequilibrium (LD) block 4 spanning exons 24-41, the frequency of the CCC haplotype in adult BA was significantly higher than that in adult controls (Pcor = 0.038). Neither the SNP nor the haplotype showing association with adult BA demonstrated a significant association with serum total immunoglobulin E (IgE) level in BA patients and controls. Our results suggest that LD block 4 confers susceptibility to adult BA with mechanisms relevant to the effector phase of allergic inflammation.

Original languageEnglish
Pages (from-to)728-738
Number of pages11
JournalJournal of Human Genetics
Issue number8
Publication statusPublished - 2008 Aug


  • Association
  • Asthma
  • C3 gene
  • Complement
  • Haplotype
  • SNP
  • Total IgE

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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