A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.

doi:10.1016/j.ajhg.2018.02.020

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Article

A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.

American journal of human genetics - 5 Apr 2018

Kycia Ina, Wolford Brooke N, Huyghe Jeroen R, Fuchsberger Christian, Vadlamudi Swarooparani, Kursawe Romy, Welch Ryan P, Albanus Ricardo d'Oliveira, Uyar Asli, Khetan Shubham, Lawlor Nathan, Bolisetty Mohan, Mathur Anubhuti, Kuusisto Johanna, Laakso Markku, Ucar Duygu, Mohlke Karen L, Boehnke Michael, Collins Francis S, Parker Stephen C J, Stitzel Michael L

Abstract excerpt

Genome-wide association studies (GWASs) and functional genomics approaches implicate enhancer disruption in islet dysfunction and type 2 diabetes (T2D) risk. We applied genetic fine-mapping and functional (epi)genomic approaches to a T2D- and proinsulin-associated 15q22.2 locus to identify a most likely causal variant, determine its direction of effect, and elucidate plausible target genes. Fine-mapping and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29625024
DOI: 10.1016/j.ajhg.2018.02.020
PMCID: PMC5985342

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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