Human Genetics

, Volume 106, Issue 4, pp 440–446

Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association of a T924C polymorphism in the thromboxane A2 receptor gene

Authors

  • Motoko Unoki
    • Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
  • Sachiyo Furuta
    • Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
  • Yoshihiro Onouchi
    • Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
  • Otsu Watanabe
    • Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
  • Satoru Doi
    • Osaka Prefectural Habikino Hospital, Osaka, Japan
  • Hiroshi Fujiwara
    • Osaka Prefectural Habikino Hospital, Osaka, Japan
  • Akihiko Miyatake
    • Miyatake Asthma Clinic, Osaka, Japan
  • Kimie Fujita
    • College of Nursing, University of Shiga, Shiga, Japan
  • Mayumi Tamari
    • Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
  • Yusuke Nakamura
    • Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
Original Investigation

DOI: 10.1007/s004390000267

Cite this article as:
Unoki, M., Furuta, S., Onouchi, Y. et al. Hum Genet (2000) 106: 440. doi:10.1007/s004390000267

Abstract.

Although intensive studies have attempted to elucidate the genetic background of bronchial asthma (BA), one of the most common of the chronic inflammatory diseases in human populations, genetic factors associated with its pathogenesis are still not well understood. We surveyed 29 possible candidate genes for this disease for single nucleotide polymorphisms (SNPs), the most frequent type of genetic variation, in genomic DNAs from Japanese BA patients. We identified 33 SNPs, only four of which had been reported previously, among 14 of those genes. We also performed association studies using 585 BA patients and 343 normal controls for these SNPs. Of the 33 SNPs tested, 32 revealed no positive association with BA, but a T924C polymorphism in the thromboxane A2 receptor gene showed significant association (χ2=4.71, P=0.030), especially with respect to adult patients (χ2=6.20, P=0.013). Our results suggest that variants of the TBXA2R gene or some nearby gene(s) may play an important role in the pathogenesis of adult BA.

Copyright information

© Springer-Verlag 2000