MLH1 Region Polymorphisms Show a Significant Association with CpG Island Shore Methylation in a Large Cohort of Healthy Individuals
Andrea J. Savio; Mathieu Lemire; Miralem Mrkonjic; Steven Gallinger; Brent W. Zanke; Thomas J. Hudson; Bharati Bapat · 2012 · PLoS ONE
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Abstract
Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. Recent studies have identified less CpG-dense "shore" regions flanking many CpG islands. These shores often exhibit distinct methylation profiles between different tissues and matched normal versus tumor cells of patients. To date, most epigenetic studie
Abstract by Andrea J. Savio; Mathieu Lemire; Miralem Mrkonjic; Steven Gallinger; Brent W. Zanke; Thomas J. Hudson; Bharati Bapat, PLoS ONE (2012) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.1371/journal.pone.0051531