Evidence map›Paper›PMID 41905947›Full record

ArticlePigment cell & melanoma research2026

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.

Meredith F Gillis, Madeleine R Ames, Linnea Lundh, Valer Gotea, Laura Elnitski, Frank Donovan, NISC Comparative Sequencing Program, Adebowale Adeyemo, Charles Rotimi, Brian Brooks and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Pigment cell & melanoma research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

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.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Meredith F GillisHuman Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Madeleine R AmesHuman Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Linnea LundhHuman Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Valer GoteaTranslational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Laura ElnitskiTranslational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Frank DonovanCancer Genomics Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
NISC Comparative Sequencing ProgramNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Adebowale AdeyemoCenter for Research in Genomics and Global Heath, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Charles RotimiCenter for Research in Genomics and Global Heath, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Brian BrooksOpthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Wadih ZeinOpthalmic Clinical Genetics Section, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-3771-6120
William GahlHuman Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
William S OettingDepartment of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0002-1076-0711
David R AdamsOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Stacie K LoftusHuman Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-1958-4689

Funding

NIH HHS NHGRI:1Z1AHG000215-18NIH HHS NISC:1ZIBHG000196
6 · The paper itself

Abstract

OCA2, a melanosome transmembrane spanning protein, functions to regulate melanosomal pH, optimizing production of melanin pigment. OCA2 is one of eight non-syndromic autosomal recessive oculocutaneous albinism (OCA) loci and is the second most common cause of OCA worldwide. Genome wide association studies (GWAS) have identified OCA2 coding and regulatory variants linked to common skin and eye color pigment variation, skin cancer susceptibility, and retinal pigment epithelium tissue metrics. Within a cohort of 106 OCA2 probands with two biallelic OCA2 variants, a total of 74 distinct OCA2 rare variants were identified (11 large structural, 17 small indel/frameshift, 12 splice site, and 34 missense coding variants). Phase-validated haplotypes, comprised of both OCA2 common pigmentation trait GWAS alleles and rare variants, were obtained for 95/106 probands. In total, 41 distinct multi-allele OCA2 haplotypes were identified with 27 haplotypes containing either rs1800404-A and/or rs12913832-G alleles, each of which is known to reduce correct isoform splicing or gene expression by ~20%. These results find that common GWAS alleles with known OCA2 functional impact are present on haplotypes with variants of unknown significance in OCA2 probands and highlight the need for haplotype-based analysis at the OCA2 locus in addition to individual variant pathogenic assessment.

Indexed as

Albinism, OculocutaneousHaplotypesMembrane Transport ProteinsPolymorphism, Single NucleotideAllelesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMembrane Transport ProteinsOCA2 protein, humanGWAShaplotypeOCA2oculocutaneous albinism

Identifiers

PMID41905947
PMCPMC13033472

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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.