Replication of genetic association studies in asthma and related phenotypes

Siizkhuu Undarmaa, Yoichi Mashimo, Satoshi Hattori, Naoki Shimojo, Kimie Fujita, Akihiko Miyatake, Satoru Doi, Yoichi Kohno, Yoshitaka Okamoto, Tomomitsu Hirota, Mayumi Tamari, Akira Hata, Yoichi Suzuki

Research output: Contribution to journalArticlepeer-review

43 Citations (Scopus)


In asthma genetics, the association of highly replicated susceptibility genes lacks consistency across populations. To identify genuine associations, we investigated the reproducibility of the 23 most promising asthma and asthma-related candidate genes in a moderately sized sample from the Japanese population. We compared the frequency of 33 polymorphisms in unrelated cases and controls and tested for their association with asthma, atopy and serum total IgE levels using allele frequency, codominant, dominant and recessive genotype models. On the basis of the consistency of our findings with previous meta-analyses and large replication studies, IL13, TNF, ADAM33, IL4RA and TBXA2R might represent common major asthma and asthma-related trait genes. Individual gene assessment was extended to the interactions between two polymorphisms using our original method. Interactions between TBXA2R and ADAM33, and IL4RA and C3 were suggested to increase the risk for childhood and all asthma (adult and childhood asthma combined). The confirmation of previously reported associations between gene polymorphisms and phenotypes was problematic when as few as several hundred samples per group were used. Stratification of the subjects by environmental factors or other confounding factors may be necessary to improve the sensitivity and reliability of association results.

Original languageEnglish
Pages (from-to)342-349
Number of pages8
JournalJournal of Human Genetics
Issue number6
Publication statusPublished - 2010 Jun


  • association
  • asthma
  • atopy
  • polymorphism
  • replication

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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