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Homoplasmic 3316G→A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism?
  1. CHING-WAN LAM*,
  2. TAO YANG*,
  3. MAN-WO TSANG†,
  4. CHI-PUI PANG‡
  1. *Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
  2. †Department of Medicine, United Christian Hospital, Hong Kong, China
  3. ‡Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Hong Kong, China
  1. Dr Lam, ching-wanlam{at}cuhk.edu.hk

https://doi.org/10.1136/jmg.38.3.e10

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    Editor—We read with interest the article by Odawara et al,1 in which the authors reported that a homoplasmic mutation, 3316G→A, in theND1 gene of the mitochondrial genome was associated with type 2 diabetes in the Japanese population. Recently, we have performed the same study in the Chinese population and, interestingly, we obtained a different result.

    A total of 277 subjects with type 2 diabetes aged 29-85 years (mean 58.9 (SD 12.0) years) who attended the Diabetes Clinic of United Christian …

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