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2 records shown · first 60Evidence of Association between CTLA-4 Gene Polymorphisms and Colorectal Cancers in Saudi Patients.
PMID 37107632 | PMCID PMC10138150 | DOI 10.3390/genes14040874 · Genes · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs11571317 | “It is highly expressed in several types of autoimmune diseases and cancers including colorectal cancer (CRC). (1) Objective: To explore the association between CTLA-4 single nucleotide polymorphisms (SNP) and risk to (CRC) in the Saudi population. (2) Methods: In this case-control study, 100 patients with CRC and 100 matched healthy controls were genotyped for three CTLA-4 SNPs: rs11571317 (-658C > T), rs231775 (+49A > G) and rs3087243 (CT60 G > A), using TaqMan assay method.” | 0.90 | hgvs_regex_v1 |
| phenotype | colorectal cancer | “It is highly expressed in several types of autoimmune diseases and cancers including colorectal cancer (CRC). (1) Objective: To explore the association between CTLA-4 single nucleotide polymorphisms (SNP) and risk to (CRC) in the Saudi population. (2) Methods: In this case-control study, 100 patients with CRC and 100 matched healthy controls were genotyped for three CTLA-4 SNPs: rs11571317 (-658C > T), rs231775 (+49A > G) and rs3087243 (CT60 G > A), using TaqMan assay method.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Evidence of Association between CTLA-4 Gene Polymorphisms and Colorectal Cancers in Saudi Patients. It is highly expressed in several types of autoimmune diseases and cancers including colorectal cancer (CRC). (1) Objective: To explore the association between CTLA-4 single nucleotide polymorphisms (SNP) and risk to (CRC) in the Saudi population. (2) Methods: In this case-control study, 100 patients with CRC and 100 matched healthy controls were genotyped for three CTLA-4 SNPs: rs11571317 (-658C > T), rs231775 (+49A > G) and rs3087243 (CT60 G > A), using TaqMan assay method. The CTLA-4 mRNA gene expression was found significantly higher in tumors compared to normal adjacent colon samples (p < 0.001). (4) Conclusions: Our findings support an association between the CTLA-4 rs231775 (+49A > G) and rs3087243 (CT60 G > A) polymorphisms and CRC risk in the Saudi population. Further validation in a larger cohort size is needed prior to utilizing these SNPs as a potential screening marker in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| variant | rs231775 | “It is highly expressed in several types of autoimmune diseases and cancers including colorectal cancer (CRC). (1) Objective: To explore the association between CTLA-4 single nucleotide polymorphisms (SNP) and risk to (CRC) in the Saudi population. (2) Methods: In this case-control study, 100 patients with CRC and 100 matched healthy controls were genotyped for three CTLA-4 SNPs: rs11571317 (-658C > T), rs231775 (+49A > G) and rs3087243 (CT60 G > A), using TaqMan assay method.” | 0.90 | hgvs_regex_v1 |
The Variant Allele Frequency of CTLA-4 rs11571317 (-658 C/T) Polymorphism With Colorectal Cancer Susceptibility in the Saudi Population and Other Ethnic Groups.
PMID 38186404 | PMCID PMC10770638 | DOI 10.7759/cureus.50091 · Cureus · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs11571317 | “The Variant Allele Frequency of CTLA-4 rs11571317 (-658 C/T) Polymorphism With Colorectal Cancer Susceptibility in the Saudi Population and Other Ethnic Groups.” | 0.90 | hgvs_regex_v1 |
| phenotype | colorectal cancer | “The Variant Allele Frequency of CTLA-4 rs11571317 (-658 C/T) Polymorphism With Colorectal Cancer Susceptibility in the Saudi Population and Other Ethnic Groups.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “The Variant Allele Frequency of CTLA-4 rs11571317 (-658 C/T) Polymorphism With Colorectal Cancer Susceptibility in the Saudi Population and Other Ethnic Groups. In the present study, the allelic frequency distribution of -658 C/T polymorphism was assessed in the population of Saudi Arabia and compared with other world populations. The frequency of CTLA-4 rs11571317 (-658 C/T) variant allele (T) was observed to be 25.5% and different frequencies were found significant for India (p = 0.001), USA (p = 0.03), and China (p = 0.04), when the prevalence of Saudi Arabian population was compared to that of other population groups. The current finding reveals that there is a distinct pattern of CTLA-4 rs11571317 (-658 C/T) polymorphism variant allele in the populations of Saudi Arabia, may be because of the differences in ethnicity.” | 0.95 | saudi_context_rules_v1 |