Evidence map›Paper›PMID 41340975›Full record

ArticleCureus2025

Genetic Variations in Vitamin D Metabolism Linking Epigenetic Regulation and Microbiota Interactions: From Phenotype to Genotype.

Gulsen Meral, Muhammed Yunus Alp, Neval Burkay, Esma Gökcen Alper Acar, Bilge Ozluer Baser, Selen Baran Ozmen, Ruya Atesli, Ece Aydin, Elif S Aslan

Abstract read
In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

9 authors.

Gulsen MeralMedical Genetics, Epigenetic Coaching, Norwich, GBR.
Muhammed Yunus AlpMedical Genetics, Genoks Genetics Center, Ankara, TUR.
Neval BurkayNutrition, Epigenetic Coaching, Mugla, TUR.
Esma Gökcen Alper AcarMedical Biology, Epigenetic Coaching, London, GBR.
Bilge Ozluer BaserStatistics, Mimar Sinan Fine Arts University, Istanbul, TUR.
Selen Baran OzmenPediatrics, Faculty of Medicine, Istanbul Nisantasi University, Istanbul, TUR.
Ruya AtesliPediatrics, Acibadem Kent Hospital, Izmir, TUR.
Ece AydinMolecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Biruni University, Istanbul, TUR.
Elif S AslanMolecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Biruni University, Istanbul, TUR.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVitamin D deficiency is a global health concern affecting all age groups, despite the implementation of supplementation strategies. This study aimed to investigate the roles of genetic polymorphisms, epigenetic mechanisms, and microbiota interactions in vitamin D metabolism, as well as their potential contributions to allergies, autoimmune thyroiditis, and autism spectrum disorder.

methodsThis retrospective, descriptive study analyzed data from 60 individuals (16 males and 44 females) who underwent nutrigenetic testing between 2022 and 2024 at Epigenetic Coaching, Istanbul, Turkey. Genetic analyses focused on the cytochrome P450 family 2 subfamily R member 1 (CYP2R1) gene, group-specific component (GC) gene, and vitamin D receptor (VDR) polymorphisms. Inclusion criteria included the presence of allergic symptoms, a diagnosis of autism spectrum disorder, or a diagnosis of Hashimoto's thyroiditis, along with prior genetic testing for the selected variants. Individuals with any known genetic disorder other than the studied variants were excluded.

resultsCYP2R1, GC, and VDR polymorphisms associated with vitamin D insufficiency were found at higher frequencies in patients with autism, Hashimoto's thyroiditis, and allergic conditions. When examining the associations between genetic variants and diseases, VDR FokI, VDR ApaI, and VDR BsmI variants were more frequently observed in patients with Hashimoto's thyroiditis, while the VDR TaqI variant was more common in individuals with autism. In the allergy group, BsmI, FokI, ApaI, and TaqI variants were identified at higher frequencies.

conclusionGenetic variants and epigenetic modifications may disrupt vitamin D metabolism and alter gut microbiota diversity, contributing to the development of various diseases. Evaluating vitamin D deficiency together with its genetic, epigenetic, and microbiota determinants is essential for developing effective prevention and treatment strategies. These findings emphasize the necessity of personalized, nutrigenetic-based approaches to optimize vitamin D function and support overall health.

Indexed as

epi̇geneti̇cpolymorphismpublic healthvdrvitamin d

Identifiers

PMID41340975
PMCPMC12670984

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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.