rs1801321
This is a regulatory region variant variant in the RAD51 gene.
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian populationAssociationN=1,955Camila Sane Viena et al.(2019)· Birth Defects Research
Multicenter case-control study of 1,955 Brazilian individuals examining the WNT5A rs566926 polymorphism in non-syndromic orofacial cleft (NSOC). The C allele was significantly associated with cleft lip only (NSCLO), increasing risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). Multiple epistatic interactions were detected between rs566926 and variants in BMP4, GREM1, and FGFR1, with strongest effects in individuals of European ancestry.
▶Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian populationAssociationN=1,915Renato Assis Machado et al.(2019)· Environmental and Molecular Mutagenesis
Two-stage genetic study examining 28 SNPs in oxidative stress genes (SOD1, SOD2, SOD3, PON1, PON2, PON3) in relation to nonsyndromic cleft lip with or without cleft palate (NSCL/CP) in Brazilian population. Initial transmission disequilibrium test (TDT) on 325 trios identified gene-gene interactions, which were validated in case-control analysis (722 cases, 866 controls). PON1 rs2237583 C allele showed protective effect (OR=0.79, 95% CI 0.67-0.93, p=0.005), and multiple significant PON1-PON2-PON3 gene-gene interactions were detected after Bonferroni correction.
▶rs1801133C>T polymorphism in MTHFR is a risk factor for nonsyndromic cleft lip with or without cleft palate in the Brazilian populationCase reportN=188Pamella Kelly Farias de Aguiar et al.(2015)· Birth Defects Research Part A: Clinical and Molecular Teratology
This Brazilian epidemiological study describes clinical, demographic, and environmental features of 188 nonsyndromic cleft lip and/or palate (NSCL/P) patients. Cleft lip and palate was most common (55.8%), with male predominance (64.4%). Systemic alterations were found in 23.4% of patients, primarily otorhinolaryngological and respiratory issues. Over 80% of mothers reported no vitamin supplementation during early pregnancy, highlighting a key modifiable risk factor for NSCL/P prevention.
▶Association of polymorphisms in the 5′ untranslated region of RAD51 gene with risk of endometrial cancer in the Polish populationAssociationN=1,260Magdalena M. Michalska et al.(2014)· Archives of Gynecology and Obstetrics
A case-control study in a Polish population of 630 endometrial cancer patients and 630 controls examining two RAD51 gene polymorphisms in the 5' UTR. The G135C polymorphism (rs1801320) showed significant association with endometrial cancer risk (C/C genotype OR=3.72, 95% CI 2.77-5.00, p<0.0001; C allele OR=2.54, 95% CI 2.16-2.99, p<0.0001), with higher 135C allele frequency in patients (69%) versus controls (46%). The G172T polymorphism (rs1801321) showed no significant association with cancer occurrence overall, but both polymorphisms correlated with cancer grade, with 172T allele associated with increased risk in grade 1 patients (OR=3.81, 95% CI 2.90-5.01, p<0.0001).
About RAD51
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
View all RAD51 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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