Mitochondrial DNA haplogroup associated with hereditary hearing loss in a Japanese population

Tomofumi Kato*, Noriyuki Fuku, Yoshihiro Noguchi, Haruka Murakami, Motohiko Miyachi, Yurika Kimura, Masashi Tanaka, Ken Kitamura

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Conclusion: Haplogroup D4b, especially subhaplogroup D4b2, may be one of the modifiers associated with the phenotypic expression of hereditary hearing loss (HL). Objectives: The present study investigated the association between suspected hereditary HL and 12 major mtDNA haplogroups in a Japanese population. Besides the mutations of mitochondrial DNA, many modifiers including environmental factors and genetic polymorphisms are involved in HL. Methods: The subjects comprised 373 unrelated Japanese patients with suspected hereditary HL and 480 controls. Twenty of the 373 patients were excluded from the study because the m.1555A>G or the m.3243A>G mutation had been detected in them. The mitochondrial haplotypes were classified into 12 major Japanese haplogroups (i.e. F, B, A, N9a, N9b, M7a, M7b, G1, G2, D4a, D4b, and D5). The frequency of each haplogroup in patients with HL was compared with that of the controls using the chi-squared test. Results: The frequency of the HL patients carrying the mitochondrial haplogroup D4b was significantly higher than that of the controls (37/353 [10.5%] vs 31/480 [6.5%]; OR 1.70 [95% CI 1.032.79, p 0.036]) and evidence for enhancement was found in subhaplogroup D4b2 (32/353 [9.1%] vs 24/480 [5%], OR 1.89 [95% CI 1.093.28, p 0.021]).

Original languageEnglish
Pages (from-to)1178-1182
Number of pages5
JournalActa Oto-Laryngologica
Issue number11
Publication statusPublished - 2012 Nov
Externally publishedYes


  • Haplotype
  • Mitochondrial DNA polymorphisms
  • Modifiers

ASJC Scopus subject areas

  • Otorhinolaryngology


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