ArticleHuman molecular genetics2020
Deep genotype imputation captures virtually all heritability of autoimmune vitiligo.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 27 citations in OpenAlex.
- Advances in haplotype phasing and genotype imputation.Nature reviews. Genetics · 2026Review
- Unraveling genetic predisposition and oxidative stress in vitiligo development and the role of artificial intelligence (AI) in diagnosis and management.Journal of medical biochemistry · 2025Article
- Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo.American journal of human genetics · 2024Article
- The role of aryl hydrocarbon receptor in vitiligo: a review.Frontiers in immunology · 2024Review
- Vitiligo: Pathogenesis and New and Emerging Treatments.International journal of molecular sciences · 2023Review
- Evaluation of polymorphisms and expression ofPostepy dermatologii i alergologii · 2023Article
- Vitiligo, from Pathogenesis to Therapeutic Advances: State of the Art.International journal of molecular sciences · 2023Review
- Melanocyte stem cells in skin diseases and their potential in cell-based therapy.Histology and histopathology · 2022Review
- Clinical Features, Immunopathogenesis, and Therapeutic Strategies in Vitiligo.Clinical reviews in allergy & immunology · 2021Review
- Height and Risk of Vitiligo: A Nationwide Cohort Study.Journal of clinical medicine · 2021Article
- The genetic architecture of vitiligo.Pigment cell & melanoma research · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Autoimmune vitiligo is a complex disease involving polygenic risk from at least 50 loci previously identified by genome-wide association studies. The objectives of this study were to estimate and compare vitiligo heritability in European-derived patients using both family-based and 'deep imputation' genotype-based approaches. We estimated family-based heritability (h2FAM) by vitiligo recurrence among a total 8034 first-degree relatives (3776 siblings, 4258 parents or offspring) of 2122 unrelated vitiligo probands. We estimated genotype-based heritability (h2SNP) by deep imputation to Haplotype Reference Consortium and the 1000 Genomes Project data in unrelated 2812 vitiligo cases and 37 079 controls genotyped genome wide, achieving high-quality imputation from markers with minor allele frequency (MAF) as low as 0.0001. Heritability estimated by both approaches was exceedingly high; h2FAM = 0.75-0.83 and h2SNP = 0.78. These estimates are statistically identical, indicating there is essentially no remaining 'missing heritability' for vitiligo. Overall, ~70% of h2SNP is represented by common variants (MAF > 0.01) and 30% by rare variants. These results demonstrate that essentially all vitiligo heritable risk is captured by array-based genotyping and deep imputation. These findings suggest that vitiligo may provide a particularly tractable model for investigation of complex disease genetic architecture and predictive aspects of personalized medicine.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.