ArticleHuman molecular genetics2013
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers, 11 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
133 citing papers in PubMed, 11 syntheses or guidelines pooled it.
- Alzheimer disease is (sometimes) highly heritable: Drivers of variation in heritability estimates for binary traits, a systematic review.PLoS genetics · 2025Pooled it
- A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores.Molecular neurodegeneration · 2023Pooled it
- The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.Nature genetics · 2023Pooled it
- Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.Molecular psychiatry · 2022Pooled it
- Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.Human reproduction (Oxford, England) · 2022Pooled it
- Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk.Translational psychiatry · 2021Pooled it
- Evaluation of the Genetic Variance of Alzheimer's Disease Explained by the Disease-Associated Chromosomal Regions.Journal of Alzheimer's disease : JAD · 2019Pooled it
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.Nature communications · 2016Pooled it
- Crowdsourced estimation of cognitive decline and resilience in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2016Pooled it
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.Human molecular genetics · 2014Pooled it
- Implementation of genome-wide complex trait analysis to quantify the heritability in multiple myeloma.Scientific reports · 2015Trial
- Rare variant analyses provide insights into the genetic architecture of endometriosis.Human genomics · 2026Article
- Immune-nutritional interactions in endometriosis: current evidence and future perspectives in disease management.Frontiers in immunology · 2026Review
- Gene Polymorphisms Determining Sex Hormone-Binding Globulin Levels and Endometriosis Risk.International journal of molecular sciences · 2025Article
- Shared Genetic Architecture Between Endometriosis and Psychiatric Conditions May Explain Comorbidity.medRxiv : the preprint server for health sciences · 2025Article
- Can classical statistics and deep learning converge on explainable, causally driven target discovery?DNA research : an international journal for rapid publication of reports on genes and genomes · 2025Review
- Co-occurrence of endometriosis with psoriasis and psoriatic arthritis: Genetic insights (Review).Experimental and therapeutic medicine · 2025Review
- Interaction between genetic risk and comorbid conditions in endometriosis.HGG advances · 2025Article
- Integrated genetic analysis of Alzheimer's disease and stroke subtypes: insights from LDSC, PLACO, and MR studies.BMC neurology · 2025Article
73 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors.
Funding
Abstract
Common diseases such as endometriosis (ED), Alzheimer's disease (AD) and multiple sclerosis (MS) account for a significant proportion of the health care burden in many countries. Genome-wide association studies (GWASs) for these diseases have identified a number of individual genetic variants contributing to the risk of those diseases. However, the effect size for most variants is small and collectively the known variants explain only a small proportion of the estimated heritability. We used a linear mixed model to fit all single nucleotide polymorphisms (SNPs) simultaneously, and estimated genetic variances on the liability scale using SNPs from GWASs in unrelated individuals for these three diseases. For each of the three diseases, case and control samples were not all genotyped in the same laboratory. We demonstrate that a careful analysis can obtain robust estimates, but also that insufficient quality control (QC) of SNPs can lead to spurious results and that too stringent QC is likely to remove real genetic signals. Our estimates show that common SNPs on commercially available genotyping chips capture significant variation contributing to liability for all three diseases. The estimated proportion of total variation tagged by all SNPs was 0.26 (SE 0.04) for ED, 0.24 (SE 0.03) for AD and 0.30 (SE 0.03) for MS. Further, we partitioned the genetic variance explained into five categories by a minor allele frequency (MAF), by chromosomes and gene annotation. We provide strong evidence that a substantial proportion of variation in liability is explained by common SNPs, and thereby give insights into the genetic architecture of the diseases.
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