ArticleNature communications2014
Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.Molecular metabolism · 2022Pooled it
- Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.Human molecular genetics · 2016Pooled it
- Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study.BMC psychiatry · 2018Trial
- The Use of Population Isolates to Identify Metabolic Syndrome's Genetic Aetiology.Molecular genetics & genomic medicine · 2026Review
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 2026Review
- First European case of Geller syndrome complicated with hypokalemic nephropathy: A case report and literature review.Metabolism open · 2026Review
- The genetic architecture of Parkinson's disease on the Island of Crete.NPJ Parkinson's disease · 2025Article
- Rare uniparental lineages reveal external ancestries in the gene pool of the Italian linguistic enclave of Grecìa Salentina.Scientific reports · 2025Article
- From Human to Mouse and Back Again: Genetic and Genomic Ta(i)les of Islet Dysfunction in Type 2 Diabetes.Annual review of genetics · 2025Review
- Periodic dietary restriction of animal products induces metabolic reprogramming in humans with effects on cardiometabolic health.npj metabolic health and disease · 2025Article
- Multi-omics characterization of type 2 diabetes associated genetic variation.medRxiv : the preprint server for health sciences · 2024Article
- Genetic determinants of plasma protein levels in the Estonian population.Scientific reports · 2024Article
- Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population.BMC genomics · 2023Article
- Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing.Human molecular genetics · 2023Article
- Genome-wide association study of varicose veins identifies a protective missense variant in GJD3 enriched in the Finnish population.Communications biology · 2023Article
- Is there still evolution in the human population?Biologia futura · 2022Review
- Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.Scientific reports · 2022Article
- Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.Scientific reports · 2022Observational
- Mapping the serum proteome to neurological diseases using whole genome sequencing.Nature communications · 2021Article
- Personalized genealogical history of UK individuals inferred from biobank-scale IBD segments.BMC biology · 2021Article
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31 authors.
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Abstract
Isolated populations are emerging as a powerful study design in the search for low-frequency and rare variant associations with complex phenotypes. Here we genotype 2,296 samples from two isolated Greek populations, the Pomak villages (HELIC-Pomak) in the North of Greece and the Mylopotamos villages (HELIC-MANOLIS) in Crete. We compare their genomic characteristics to the general Greek population and establish them as genetic isolates. In the MANOLIS cohort, we observe an enrichment of missense variants among the variants that have drifted up in frequency by more than fivefold. In the Pomak cohort, we find novel associations at variants on chr11p15.4 showing large allele frequency increases (from 0.2% in the general Greek population to 4.6% in the isolate) with haematological traits, for example, with mean corpuscular volume (rs7116019, P=2.3 × 10(-26)). We replicate this association in a second set of Pomak samples (combined P=2.0 × 10(-36)). We demonstrate significant power gains in detecting medical trait associations.
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