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3 records shown · first 60Evaluating the Impact of rs4025935, rs71748309, rs699947, and rs4646994 Genetic Determinants on Polycystic Ovary Syndrome Predisposition-A Case-Control Study.
PMID 40283113 | PMCID PMC12028387 | DOI 10.3390/life15040558 · Life (Basel, Switzerland) · 2025 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs699947 | “Evaluating the Impact of rs4025935, rs71748309, rs699947, and rs4646994 Genetic Determinants on Polycystic Ovary Syndrome Predisposition-A Case-Control Study.” | 0.90 | hgvs_regex_v1 |
| gene | GSTM1 | “Thus, this study aims to investigate the association of a glutathione S-transferase M1 (GSTM1) deletion, VEGF gene (I/D) insertion/deletion, and VEGF-2578 gene polymorphism with polycystic ovarian syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | GSTT1 | “Specifically, regarding the GSTT1 genotype, individuals with the GSTT1-null genotype had an odds ratio (OR) of 4.16 and a relative risk (RR) of 2.14 compared to those with the GSTT1 genotype, with statistically significant differences (p = 0.0001).” | 0.98 | hgnc_dict_v1 |
| phenotype | metabolic syndrome | “It is linked to an increased risk of endometrial cancer, cardiovascular diseases, mental illnesses, non-alcoholic fatty liver disease, metabolic syndrome, and Type 2 diabetes.” | 0.98 | phenotype_alias_lexicon_v2 |
Genetic Polymorphisms of Vascular Endothelial Growth Factor and Their Impact on Recurrent Spontaneous Miscarriage in Saudi Women.
PMID 40429899 | PMCID PMC12112548 | DOI 10.3390/ijms26104757 · International journal of molecular sciences · 2025 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs699947 | “DNA was extracted from the buffy coat and analyzed for VEGF polymorphisms (rs10434, rs3025053, rs699947, rs2010963, rs833061, and rs25648) using TaqMan Real-Time PCR.” | 0.90 | hgvs_regex_v1 |
| phenotype | infertility | “Disruptions in vascular development, such as those due to variations in VEGF gene expression, may contribute to infertility and pregnancy complications.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Genetic Polymorphisms of Vascular Endothelial Growth Factor and Their Impact on Recurrent Spontaneous Miscarriage in Saudi Women. This study investigated the impact of VEGF gene polymorphisms on RSM in Saudi women. Blood samples were collected from 200 Saudi women (100 cases with RSM and 100 controls). VEGF polymorphisms, along with reduced VEGF serum levels, are associated with an increased risk of RSM in Saudi women.” | 0.95 | saudi_context_rules_v1 |
| variant | rs10434 | “DNA was extracted from the buffy coat and analyzed for VEGF polymorphisms (rs10434, rs3025053, rs699947, rs2010963, rs833061, and rs25648) using TaqMan Real-Time PCR.” | 0.90 | hgvs_regex_v1 |
Potential Impact of Vascular Endothelial Growth Factor Gene Variation (-2578C>A) on Breast Cancer Susceptibility in Saudi Arabia: a Case-Control Study.
PMID 29699375 | PMCID PMC6031782 | DOI 10.22034/APJCP.2018.19.4.1135 · Asian Pacific journal of cancer prevention : APJCP · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs699947 | “The VEGF rs699947 SNP is located in the promoter region and is associated with susceptibility to breast carcinoma development.” | 0.90 | hgvs_regex_v1 |
| phenotype | breast cancer | “Potential Impact of Vascular Endothelial Growth Factor Gene Variation (-2578C>A) on Breast Cancer Susceptibility in Saudi Arabia: a Case-Control Study.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Potential Impact of Vascular Endothelial Growth Factor Gene Variation (-2578C>A) on Breast Cancer Susceptibility in Saudi Arabia: a Case-Control Study. Here, we investigated the association of the -2578C>A polymorphism in the VEGF gene with breast cancer risk in Saudi women. An increased risk of developing breast cancer in Saudi women was associated with the VEGF −2578 AA genotype (OR = 2.91, 95 % CI, 1.18-7.20; p = 0.01; RR 1.78 (1.01-3.11 p=0.01), the VEGF −2578 A allele (OR = 1.79, 95 % CI, 1.17-2.73; p = 0.004: RR 1.35 1.07-1.71) and the VEGFR-(CA+ AA) (OR 1.99 1.13-3.51; RR 1.401.0-1.85). Conclusion: Our data showed a significant association of the VEGF -2578C>A polymorphism with BC susceptibility in Saudi women.” | 0.95 | saudi_context_rules_v1 |
| variant | -2578C>A | “Here, we investigated the association of the -2578C>A polymorphism in the VEGF gene with breast cancer risk in Saudi women.” | 0.82 | literature_variant_regex_v2 |