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Journal of Applied Genetics

, Volume 59, Issue 4, pp 441–447 | Cite as

Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?

  • Robert P. Erickson
Human Genetics • Review

Abstract

Early onset Niemann-Pick C diseases are extremely rare, especially Niemann-Pick C2. Perhaps unusually for autosomal recessive diseases, heterozygotes for mutations in NPC1 manifest many biological variations. NPC2 deficiency has large effects on fertility. These features of NPC1 and NPC2 are reviewed in regard to possible negative selection for heterozygotes carrying null and hypomorphic alleles.

Keywords

Niemann-Pick C disease Heterozygote disadvantage Carrier frequency Obesity Fertility Dementia 

Notes

Compliance with ethical standards

Conflict of interest

The author declares that he has no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by the author.

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Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2018

Authors and Affiliations

  1. 1.Department of PediatricsUniversity of ArizonaTucsonUSA

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