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A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy

Kentaro Toyota1, Taeko Hashimoto, Daisuke Ogino

  • 1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

Journal of Human Genetics
|February 15, 2013
PubMed

Insights

Lipoprotein glomerulopathy (LPG) is a hereditary kidney disease. The APOE-Sendai mutation is common in Japanese LPG patients due to a founder effect but rare in the general population.

Area of Science:

  • Nephrology
  • Genetics
  • Epidemiology

Background:

  • Lipoprotein glomerulopathy (LPG) is a hereditary kidney disease characterized by lipoprotein thrombi, hyperlipoproteinemia, and elevated serum apolipoprotein E (APOE).
  • Over 12 APOE mutations cause LPG, with APOE-Sendai (Arg145Pro) frequently found in Japanese patients, particularly from eastern Japan.
  • Effective therapies exist, necessitating epidemiological data for early LPG diagnosis.

Purpose of the Study:

  • To investigate the haplotype structure and gene frequency of the APOE-Sendai mutation in Japanese patients with LPG.
  • To explore the association of the counterpart APOE allele with LPG onset.
  • To contribute to understanding the genetic factors involved in LPG pathogenesis.

Main Methods:

  • Haplotype analysis of APOE-Sendai in 13 LPG patients from 9 families.
  • Gene frequency study of APOE-Sendai in 2023 controls and 418 hemodialysis patients in Yamagata prefecture using the TaqMan method.
  • Analysis of counterpart APOE allele haplotypes in patients and asymptomatic carriers.

Main Results:

  • All APOE-Sendai mutations shared an identical haplotype, suggesting a founder effect in Japanese LPG patients.
  • The APOE-Sendai mutation was absent in the general population and hemodialysis patients in Yamagata prefecture.
  • No common haplotype was found for the counterpart APOE allele among patients, and some shared haplotypes with asymptomatic carriers, indicating it's unlikely associated with LPG onset.

Conclusions:

  • The APOE-Sendai mutation likely arose from a founder effect and is prevalent in Japanese LPG patients.
  • The APOE-Sendai mutation is rare in the general Japanese population, even in regions with high LPG prevalence.
  • The counterpart APOE allele does not appear to be a significant factor in LPG development, suggesting other genetic or epigenetic factors are involved.

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