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Article

CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes.

Laboratory investigation; a journal of technical methods and pathology - 1 Aug 2020

Vohra Manik, Adhikari Prabha, Souza Sydney C D', Nagri Shivashankar K, Umakanth Shashikiran, Satyamoorthy Kapaettu, Rai Padmalatha S

Abstract excerpt

The interaction of genetic and epigenetic mechanisms is one of the underlying causes of phenotypic variability in complex diseases such as type 2 diabetes (T2D). To explore the influence of genetic and epigenetic changes in T2D, we examined the effect of methylation of CpG-SNP sites on allele-specific expression (ASE) in one-carbon metabolism pathway genes in T2D. Case-control study was conducted on 860...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32238907
DOI: 10.1038/s41374-020-0422-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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