Systematic evaluation of the association between a missense variant in XRCC3 gene splicing site and the pathogenesis of ovarian cancer.
Biosci Rep
; 43(6)2023 06 28.
Article
en En
| MEDLINE
| ID: mdl-37212185
ABSTRACT
The effects and underlying mechanism of XRCC3 rs861539 on the risk of ovarian cancer (OC) are still unclear. Therefore, a meta-analysis of 10 studies containing 6,375 OC cases and 10,204 controls was performed for this topic. Compared with GG genotype, GA + AA genotypes could significantly decrease the OC risk, odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were 0.89 (0.83-0.95) and P=0.001, and 0.88 (0.82-0.95) and P=0.001 under the dominant and heterozygous genetic models. Compared with G allele, rs861539 A could significantly reduce the OC risk, OR and its corresponding 95% CI was 0.94 (0.89-0.98) and P=0.007. By subgroup analysis in ethnicity, protective effects on OC risk in Caucasians were observed (the dominant model OR = 0.88, 95% CI = 0.82-0.94, P<0.001; the heterozygous model OR = 0.87, 95% CI = 0.81-0.94, P<0.001; the allelic model OR = 0.93, 95% CI = 0.88-0.97, P=0.003; the homozygous model OR = 0.89, 95% CI = 0.80-0.98, P=0.024). The authenticity of positive association findings was further confirmed by trial sequential analysis (TSA) and false-positive report probability (FPRP) analysis. The subsequent functional analysis revealed that rs861539 could regulate the post-transcriptional expression of XRCC3 by changing the activity of putative splice sites and types of splicing factors. rs861539 also may act as an expression Quantitative Trait Loci (eQTL) affecting the expression of genes such as XRCC3, MARK3, APOPT1, etc., and has an impact on the structure of XRCC3.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Predisposición Genética a la Enfermedad
Tipo de estudio:
Etiology_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
/
Systematic_reviews
Límite:
Female
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Humans
Idioma:
En
Revista:
Biosci Rep
Año:
2023
Tipo del documento:
Article
País de afiliación:
China