ArticleScientific reports2015
Copy number variations play important roles in heredity of common diseases: a novel method to calculate heritability of a polymorphism.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Genome-Wide Detection of Copy Number Variation and Association Studies With Physiological and Anatomical Indicators of Heat Stress Response in Lactating Sows.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026Article
- Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model.Journal of human genetics · 2024Article
- DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.Biomedical journal · 2021Review
- AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data.Genes & diseases · 2019Article
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Abstract
"Missing heritability" in genome wide association studies, the failure to account for a considerable fraction of heritability by the variants detected, is a current puzzle in human genetics. For solving this puzzle the involvement of genetic variants like rare single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) has been proposed. Many papers have published estimating the heritability of sets of polymorphisms, however, there has been no paper discussing the estimation of a heritability of a single polymorphism. Here I show a simple but rational method to calculate heritability of an individual polymorphism, hp(2). Using this method, I carried out a trial calculation of hp(2) of CNVs and SNPs using published data. It turned out that hp(2) of some CNVs is quite large. Noteworthy examples were that about 25% of the heritability of type 2 diabetes mellitus and about 15% of the heritability of schizophrenia could be accounted for by one CNV and by four CNVs, respectively. The results suggest that a large part of missing heritability could be accounted for by re-evaluating the CNVs which have been already found and by searching novel CNVs with large hp(2).
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