rs636832
This variant is located in the AGO1 gene.
▶Research that mentions this SNP (5)
▶Potentially functional genetic variants in microRNA processing genes and risk of HBV‐related hepatocellular carcinomaMeta-analysisN=8,614Li Liu et al.(2013)· Molecular Carcinogenesis
This systematic review and meta-analysis examined associations between SNPs in miRNA biosynthesis genes DROSHA and DGCR8 and cancer risk across 10 case-control studies (4,265 cases, 4,349 controls). The DGCR8 rs417309 SNP showed significant association with elevated overall cancer risk across all genetic models. DROSHA rs10719 and rs6877842 SNPs were associated with cancer risk in specific populations (Asian populations and laryngeal cancer, respectively).
▶Analysis of a polymorphic microRNA target site in the purinergic receptor P2RX7 geneReviewOmar Abdul Rahman et al.(2010)· ELECTROPHORESIS
This narrative review examines the role of microRNAs (miRNAs) in neuropsychiatric disorders including schizophrenia, bipolar disorder, major depression, Alzheimer's disease, and Parkinson's disease. The paper synthesizes studies on miRNA expression alterations in peripheral tissues and genetic variants in miRNA-related genes (SNPs in miRNAs, miRNA target genes, and miRNA processing genes), highlighting the potential of miRNAs as biomarkers for diagnosis and prognosis of brain diseases.
▶Genetic variation in MicroRNA genes and risk of oral premalignant lesionsAssociationN=272Clague J. et al.(2010)· Molecular Carcinogenesis
A case-control study of 136 oral premalignant lesion (OPL) patients and 136 matched controls examined 31 SNPs in microRNA biogenesis pathway genes. The variant allele of rs7372209 in mir26a-1 increased OPL risk (OR 2.09, 95% CI 1.23-3.56), as did rs3742330 in DICER (OR 2.09, 95% CI 1.03-4.24), while rs197412 in GEMIN3 reduced risk (OR 0.58, 95% CI 0.33-0.99). A combined analysis of five SNPs with borderline significant associations showed a dramatic cumulative effect on OPL risk (P for trend <0.0001), with the high-risk group having 21-fold increased odds.
▶Association of a common AGO1 variant with lung cancer risk: A two‐stage case–control studyMeta-analysisN=8,614Jong‐Sik Kim et al.(2010)· Molecular Carcinogenesis
Meta-analysis of 10 case-control studies (4,265 cancer cases, 4,349 controls) examining seven SNPs in miRNA biosynthesis genes DROSHA and DGCR8 showed that DGCR8 rs417309 (G/A) was significantly associated with increased cancer risk (OR=3.169, 95%CI=1.63-6.146 for AA vs GG; OR=3.026, 95%CI=1.574-5.817 for recessive model), while DROSHA rs10719 and rs6877842 showed associations in Asian and laryngeal cancer subgroups.
▶Prognostic impact of microRNA-related gene polymorphisms on survival of patients with colorectal cancerAssociationN=426Hyun-Chul Lee et al.(2010)· Journal of Cancer Research and Clinical Oncology
This study evaluated 40 SNPs in microRNA-related genes for associations with colorectal cancer prognosis in 426 Korean patients. In univariate analysis, mir492 C>G (rs2289030) was significantly associated with progression-free survival (PFS 70.8% for C/C vs 62.6% for C/G vs 60.3% for G/G, P=0.0426), but no associations remained significant in multivariate analysis. The authors concluded that none of the 40 miRNA-related gene polymorphisms tested were independent prognostic markers for surgically resected colorectal cancer.
About AGO1
This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
View all AGO1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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