Genetic analysis of dilated cardiomyopathy hla and immunoglobulin genes may confer susceptibility

Yoshinori Koga, Hironori Toshima, Hirofumi Nishi, Hirofumi Nishi, Takehiko Sasazuki, Akinori Kimura, Shinji Fukuta, Reizo Kusukawa, Keishiro Kawamura, Yasuharu Nimura, Makoto Nagano, Hisakazu Yasuda, Chuichi Kawai, Tsuneaki Sugimoto, Ryozo Okada, Yoshio Yazaki, Hiromitsu Tanaka, Kenichi Harumi

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


To identify genetic factors in the immune system which control the susceptibility to dilated cardiomyopathy (DCM), HLA class II DNA typing was performed in 61 Japanese patients, using PCR/SSO probe analyses. The frequencies of HLA-DQB1∗0503 (15% vs 5%; RR=3.06, X2=7.19) and DQB1∗0604 (21% vs 10%; RR=2.41, X2=6.20) were significantly increased and that of HLA-DQB1∗0502 (RR=1.74) was slightly increased in the DCM patients. The frequency of DQB1∗0303 (16% vs 31%; RR=0.44, X2=5.16) was significantly decreased in the patients. The increased HLA-DQB1 alleles have a histidine residue in common at the 30th codon for the HLA-DQB1 chain. Among the genetic markers studied by Southern blot analyses, IGLV (immunoglobulin lambda light chain, pV3.3) showed a strong association with DCM, i.e. A2/A2 genotype was found in 37.7% of patients whereas it was observed in only 18.9% of the control subjects (RR=2.6, X2=7.77). The frequency of this genotype was higher in patients under age 45 years at the time of diagnosis (45.5%, RR=3.6, X2=10.02). These results suggest that HLA and immunoglobulin genes are closely linked to susceptibility to DCM.

Original languageEnglish
Pages (from-to)1054-1061
Number of pages8
Issue number10
Publication statusPublished - 1992
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Physiology
  • Cardiology and Cardiovascular Medicine


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