ArticlePloS one2012
Finding missing heritability in less significant Loci and allelic heterogeneity: genetic variation in human height.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A meta-analysis of heritability of cognitive aging: minding the "missing heritability" gap.Neuropsychology review · 2015Pooled it
- Genetic heterogeneity: Challenges, impacts, and methods through an associative lens.Genetic epidemiology · 2022Review
- Stable methylation loci are associated with systolic blood pressure in a Croatian island population.Epigenomics · 2022Article
- A systematic SNP selection approach to identify mechanisms underlying disease aetiology: linking height to post-menopausal breast and colorectal cancer risk.Scientific reports · 2017Article
- Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study.European journal of endocrinology · 2016Article
- Genetic Architecture of Resistance to Stripe Rust in a Global Winter Wheat Germplasm Collection.G3 (Bethesda, Md.) · 2016Article
- A Genetic Network Associated With Stress Resistance, Longevity, and Cancer in Humans.The journals of gerontology. Series A, Biological sciences and medical sciences · 2016Article
- Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis.PLoS medicine · 2015Article
- A genome-wide association study of resistance to stripe rust (Puccinia striiformis f. sp. tritici) in a worldwide collection of hexaploid spring wheat (Triticum aestivum L.).G3 (Bethesda, Md.) · 2015Article
- A polymorphism in the DNA repair domain of APEX1 is associated with the radiation-induced pneumonitis risk among lung cancer patients after radiotherapy.The British journal of radiology · 2014Article
- Signatures of natural selection on genetic variants affecting complex human traits.Applied & translational genomics · 2013Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Genome-wide association studies (GWAS) have identified many common variants associated with complex traits in human populations. Thus far, most reported variants have relatively small effects and explain only a small proportion of phenotypic variance, leading to the issues of 'missing' heritability and its explanation. Using height as an example, we examined two possible sources of missing heritability: first, variants with smaller effects whose associations with height failed to reach genome-wide significance and second, allelic heterogeneity due to the effects of multiple variants at a single locus. Using a novel analytical approach we examined allelic heterogeneity of height-associated loci selected from SNPs of different significance levels based on the summary data of the GIANT (stage 1) studies. In a sample of 1,304 individuals collected from an island population of the Adriatic coast of Croatia, we assessed the extent of height variance explained by incorporating the effects of less significant height loci and multiple effective SNPs at the same loci. Our results indicate that approximately half of the 118 loci that achieved stringent genome-wide significance (p-value<5×10(-8)) showed evidence of allelic heterogeneity. Additionally, including less significant loci (i.e., p-value<5×10(-4)) and accounting for effects of allelic heterogeneity substantially improved the variance explained in height.
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