rs1106042

This variant is located in the PIWIL1 gene.

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ClinVar annotation

Benign
1 submitter

PIWIL1-related disorder

View on ClinVar →
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Research that mentions this SNP (3)

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Potentially functional genetic variants in microRNA processing genes and risk of HBV‐related hepatocellular carcinoma
Meta-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).

Traits studied:Bladder cancerBreast cancerCancer susceptibilityCervical cancerColorectal cancerEsophageal cancerGastric cancerHead and neck cancerHepatocellular carcinomaLaryngeal cancerLung cancerOral cancerProstate cancerRenal cell carcinomaThyroid cancer
PubMedDOIMetascience Observatory
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Association of a common AGO1 variant with lung cancer risk: A two‐stage case–control study
Meta-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.

Traits studied:Bladder cancerBreast cancerCancer susceptibilityColorectal cancerGastric cancerHead and neck cancerHepatocellular carcinomaLaryngeal cancerLung cancerOvarian cancerProstate cancerRenal cell carcinoma
PubMedDOIMetascience Observatory
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Prognostic impact of microRNA-related gene polymorphisms on survival of patients with colorectal cancer
AssociationN=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.

Traits studied:Colorectal cancer prognosisOverall survivalProgression-free survival
PubMedDOIMetascience Observatory

About PIWIL1

This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

View all PIWIL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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