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Combined analyses of RNA-sequence and Hi-C along with GWAS loci-A novel approach to dissect keloid disorder genetic mechanism.

PLoS genetics - 1 Jun 2022

Huang Jia, Zhou Xiaobo, Wang Wenbo, Zhou Guangdong, Zhang WenJie, Gao Zhen, Wu Xiaoli, Liu Wei

Abstract excerpt

Keloid disorder is a tumour-like disease with invasive growth and a high recurrence rate. Genetic contribution is well expected due to the presence of autosomal dominant inheritance and various genetic mutations in keloid lesions. However, GWAS failed to reveal functional variants in exon regions but single nucleotide polymorphisms in the non-coding regions, suggesting the necessity of innovative genetic...

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PMID: 35709140
DOI: 10.1371/journal.pgen.1010168
PMCID: PMC9202908

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