Evidence map›Paper›PMID 41694669›Full record

ArticleBiochemistry and biophysics reports2026

Functional polymorphisms in pigmentation-related genes

Mika Reinisalo, Seppo Helisalmi, Ali Koskela, Jenni Küblbeck, Mikko Liukkonen, Maija Mutikainen, Angela J Cree, Helen Griffiths, Andras Papp, Sanna Seitsonen and 10 more

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In one paragraph

Article in Biochemistry and biophysics reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

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.

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

20 authors.

Mika ReinisaloSchool of Pharmacy, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Seppo HelisalmiInstitute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Ali KoskelaDepartment of Ophthalmology, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Jenni KüblbeckSchool of Pharmacy, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Mikko LiukkonenDepartment of Ophthalmology, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Maija MutikainenSchool of Pharmacy, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Angela J CreeClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, SO17 1 B, UKJ, UK.
Helen GriffithsClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, SO17 1 B, UKJ, UK.
Andras PappDepartment of Ophthalmology, Semmelweis University, Budapest, 1085, Hungary.
Sanna SeitsonenDepartment of Ophthalmology, Helsinki University Hospital, HUS, P.O.Box 220, Helsinki, 00029, Finland.
Ilkka ImmonenDepartment of Ophthalmology, Helsinki University Hospital, HUS, P.O.Box 220, Helsinki, 00029, Finland.
Hilkka SoininenDepartment of Neurology, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Arto UrttiSchool of Pharmacy, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Mikko HiltunenInstitute of Biomedicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Mateusz WiniarczykDepartment of Vitreoretinal Surgery, Medical University of Lublin, Lublin, 20-079, Poland.
Miklos ReschDepartment of Ophthalmology, Semmelweis University, Budapest, 1085, Hungary.
J Arjuna RatnayakaClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, SO17 1 B, UKJ, UK.
Andrew J LoteryClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, SO17 1 B, UKJ, UK.
Kai KaarnirantaDepartment of Ophthalmology, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.
Paavo HonkakoskiSchool of Pharmacy, Faculty of Health Sciences, University of Eastern Finland, P.O.Box 1627, Kuopio, FI-70211, Finland.

Funding

Wellcome Trust
6 · The paper itself

Abstract

Age-related macular degeneration (AMD) is among the leading causes of vision loss. Factors increasing the risk of AMD include aging, smoking, cardiovascular diseases and heritability. Although melanin pigment is known to protect retinal homeostasis, the link between pigmentation-related genes and AMD is unclear. We investigated associations between 26 variations in six pigmentation-related genes and wet AMD risk in a Finnish population, followed by replication in the United Kingdom (UK), Hungarian and Polish cohorts, totaling 775 patients and 959 controls. Associations of genetic components with smoking and body mass index (BMI) were tested in the Finnish and UK cohorts. The functionality of candidate variants in human retinal pigment epithelial (RPE) cells was evaluated using gene promoter analysis and gene silencing. Non-coding variants, rs1407995 in the dopachrome tautomerase (

Indexed as

Dopachrome tautomeraseMelanocortin-1 receptorPigmentationPolymorphismWet age-related macular degeneration

Identifiers

PMID41694669
PMCPMC12905695

What Socratic holds

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Registered trials

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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 Socratic graph.