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3 records shown · first 60Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia.
PMID 39910232 | PMCID PMC11799352 | DOI 10.1038/s41598-025-88749-z · Scientific reports · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs3087243 | “The purpose of this study was to explore the molecular involvement of rs231775 and rs3087243 SNPs in the CTLA4 gene in vitiligo patients.” | 0.90 | hgvs_regex_v1 |
| gene | CTLA4 | “The purpose of this study was to explore the molecular involvement of rs231775 and rs3087243 SNPs in the CTLA4 gene in vitiligo patients.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia. The recruitment was based on the sample size calculation and based on it, we have recruited 300 Saudi individuals who were evenly divided into vitiligo cases and controls. Thus, the study concluded that rs3087243 SNP was associated and rs231775 SNP showed a nominal association with vitiligo in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| variant | rs231775 | “The purpose of this study was to explore the molecular involvement of rs231775 and rs3087243 SNPs in the CTLA4 gene in vitiligo patients.” | 0.90 | hgvs_regex_v1 |
Single Nucleotide Polymorphisms Associated with Rheumatoid Arthritis in Saudi Patients.
PMID 37568346 | PMCID PMC10419658 | DOI 10.3390/jcm12154944 · Journal of clinical medicine · 2023 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs3087243 | “RESULTS: The allele and genotype frequencies of six SNPs were significantly associated with RA: rs1188934, rs10919563, rs3087243, rs1980422, rs10499194, and rs629326.” | 0.90 | hgvs_regex_v1 |
| phenotype | rheumatoid arthritis | “Single Nucleotide Polymorphisms Associated with Rheumatoid Arthritis in Saudi Patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “Single Nucleotide Polymorphisms Associated with Rheumatoid Arthritis in Saudi Patients. We investigated the associations of 33 single nucleotide polymorphisms (SNPs) with RA in the Saudi population. METHODS: This study included 105 patients with RA and an equal number of age- and sex-matched controls. The patients with RA attended outpatient clinics at King Khalid University Hospital in Riyadh, Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | rs1188934 | “RESULTS: The allele and genotype frequencies of six SNPs were significantly associated with RA: rs1188934, rs10919563, rs3087243, rs1980422, rs10499194, and rs629326.” | 0.90 | hgvs_regex_v1 |
Evidence 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 | rs3087243 | “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 | 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 |