rs3219489

This is a variant in the MUTYH gene that changes a glutamine to an histidine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

immunoglobulin isotype switching attribute

Jonsson S et al. “Identification of sequence variants influencing immunoglobulin levels.” Nature Genetics 49(8):1182-1191 (2017)

Allele G

OR —

β 0.090

p 1.0e-8

N 14,183

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters8 publications

Carcinoma of colon (CRC); Familial adenomatous polyposis 2; Familial multiple polyposis syndrome (FAP); Hereditary cancer-predisposing syndrome; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Associations of Lys939Gln and Ala499Val polymorphisms of theXPCgene with cancer susceptibility: A meta-analysis

ReviewJing He et al.(2013)· International Journal of Cancer

This review examines the role of oxidative DNA damage and its repair via base excision repair (BER) glycosylases (hOGG1, MUTYH, NEIL1-3, NTH1) in sporadic colorectal cancer (CRC) pathogenesis, prognosis, and treatment. The authors discuss hereditary syndromes (MUTYH-associated polyposis, NTHL1-associated tumor syndrome) that provide direct evidence linking oxidative DNA damage to CRC, and review conflicting evidence on common variants such as hOGG1 Ser326Cys and MUTYH polymorphisms in sporadic CRC risk. They also address the contribution of intestinal dysbiosis to oxidative damage and potential therapeutic strategies targeting DNA repair pathways.

Traits studied:Colon cancerColorectal cancerMUTYH-associated polyposisNTHL1-associated tumor syndromeRectal cancer

PubMed DOI Metascience Observatory

About MUTYH

This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]