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Published on: July 28, 2016

Genomic variations in myeloperoxidase gene in the Japanese population

Yosuke Kameoka1, Amanda S Persad, Kazuo Suzuki

  • 1Division of Genetic Resources, National Institute of Infectious Diseases, Tokyo, Japan. ykameoka@nih.go.jp

Japanese Journal of Infectious Diseases
|October 28, 2004
PubMed

Insights

Myeloperoxidase (MPO) deficiency, a neutrophil disorder, weakens host defense. This study investigated MPO gene mutations in Japanese individuals, finding no mutations linked to MPO deficiency but estimating a prevalence of 1 in 16,000 for homozygotes.

Area of Science:

  • Biochemistry
  • Genetics
  • Immunology

Background:

  • Myeloperoxidase (MPO) is a key lysosomal hemeprotein in innate immunity.
  • MPO deficiency in neutrophils impairs host defense against microbial infections.
  • Genomic mutations are the suspected cause of MPO deficiency.

Purpose of the Study:

  • To determine the prevalence of specific MPO gene mutations in the Japanese population.
  • To investigate the frequency of exon 9 mutations in the MPO gene.

Main Methods:

  • Genomic DNA analysis of 387 Japanese individuals.
  • Sequencing of the exon 9 region of the MPO gene.

Main Results:

  • No MPO mutations associated with MPO deficiency were found in the screened population.
  • Two synonymous and one non-synonymous MPO gene mutations were identified.
  • The estimated carrier frequency for exon 9 mutations was 1 in 129, suggesting a homozygote prevalence of 1 in 16,000.

Conclusions:

  • The specific MPO mutations found in Japanese MPO-deficient patients are rare in the general Japanese population.
  • MPO gene variations exist, but complete deficiency may stem from distinct, uncharacterized mutations.
  • Further research is needed to identify the genetic basis of MPO deficiency in all cases.

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