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10 records shown · first 60Association of CTLA-4 exon 1(+49 A/G) polymorphism and susceptibility to SLE in Egyptian children and adolescents.
PMID 41490163 | DOI 10.1177/09612033251414929 · Lupus · 2026 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “BackgroundRecently, Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene has emerged as an attractive candidate gene implicated in susceptibility to autoimmune disease such as Juvenile-onset SLE (JSLE).ObjectiveTo investigate CTLA-4 exon 1 + 49A/G (rs231775) SNP as a genetic marker for susceptibility to JSLE and lupus nephritis in Egyptian children and adolescents.MethodsThis prospective case-control study included 260 patients diagnosed with Juvenile-onset SLE, and 260 healthy controls.” | 0.90 | hgvs_regex_v1 |
| phenotype | systemic lupus erythematosus | “Association of CTLA-4 exon 1(+49 A/G) polymorphism and susceptibility to SLE in Egyptian children and adolescents.” | 0.93 | phenotype_alias_lexicon_v2 |
Efficacy 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 | 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 |
| 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 | 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 |
Allele frequency of CTLA-4 rs231775 (+49 A>G) gene polymorphism and its association with cancer susceptibility in the Saudi Arabian population and other ethnic groups.
PMID 41351373 | DOI 10.14715/cmb/2025.71.11.4 · Cellular and molecular biology (Noisy-le-Grand, France) · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “Allele frequency of CTLA-4 rs231775 (+49 A>G) gene polymorphism and its association with cancer susceptibility in the Saudi Arabian population and other ethnic groups.” | 0.90 | hgvs_regex_v1 |
| population | Saudi Arabia | “Allele frequency of CTLA-4 rs231775 (+49 A>G) gene polymorphism and its association with cancer susceptibility in the Saudi Arabian population and other ethnic groups. This study assessed the allelic frequency distribution of rs231775 (+49 A>G) polymorphisms in the Saudi Arabian population and compared it with other world populations. The frequency of CTLA-4 rs231775 (+49 A>G) variant allele (G) was observed at 33.0% and different frequencies were found significant for Pakistan (p=0.02), China (p=0.05), China (p= 0.00), Iran (p=0.00), Poland (p=0.00), the USA (p=0.00) and Turkey (p=0.02) when the prevalence of Saudi Arabian population is compared to that of other populations. The observed finding reveals a distinct pattern of CTLA-4 rs231775 (+49 A>G) polymorphism variant allele in the populations of Saudi Arabia, maybe because of the differences in ethnicity.” | 0.95 | saudi_context_rules_v1 |
TIM3 and CTLA4 immune checkpoint polymorphisms are associated with acute myeloid leukemia in Saudi Arabia.
PMID 38536023 | DOI 10.1080/16078454.2024.2329024 · Hematology (Amsterdam, Netherlands) · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “METHODS: Two SNPs in CTLA-4 (rs231775, A > G) and TIM-3 (rs10515746, A > C) were genotyped in 229 subjects, including 98 patients and 131 healthy controls, from the Saudi population using TaqMan assay methods.” | 0.90 | hgvs_regex_v1 |
| gene | CTLA4 | “TIM3 and CTLA4 immune checkpoint polymorphisms are associated with acute myeloid leukemia in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “TIM3 and CTLA4 immune checkpoint polymorphisms are associated with acute myeloid leukemia in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “TIM3 and CTLA4 immune checkpoint polymorphisms are associated with acute myeloid leukemia in Saudi Arabia. AIM: The present study aimed to investigate the relationship between functional single nucleotide polymorphisms (SNPs) of two immune checkpoint molecules, CTLA-4 and TIM-3, and acute myeloid leukemia (AML) in a Saudi population. METHODS: Two SNPs in CTLA-4 (rs231775, A > G) and TIM-3 (rs10515746, A > C) were genotyped in 229 subjects, including 98 patients and 131 healthy controls, from the Saudi population using TaqMan assay methods. CONCLUSION: This is the first study focusing on single nucleotide polymorphisms (SNPs) for CTLA-4 and TIM-3 in acute myeloid leukemia patients in a Saudi community and could be a potential new prognostic factor for this disease.” | 0.95 | saudi_context_rules_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 | 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 |
| 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 |
Association of CTLA-4 and IL-4 polymorphisms in viral induced liver cancer.
PMID 35525950 | PMCID PMC9080112 | DOI 10.1186/s12885-022-09633-x · BMC cancer · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “Therefore, this research is designed to investigate the implication of IL-4 and CTLA-4 gene polymorphisms by determining the association of IL-4 -590 C/T (rs2243250) and CTLA-4 + 49 A/G (rs231775) with HCC in Pakistan.” | 0.90 | hgvs_regex_v1 |
| phenotype | hepatitis B | “Prior studies indicated an association between interleukin 4 (IL-4) and cytotoxic T lymphocyte protein 4 (CTLA-4) gene polymorphisms in many types of cancers, including HCC that are either hepatitis B virus (HBV)- or hepatitis C Virus (HCV)-induced.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hepatitis C | “Prior studies indicated an association between interleukin 4 (IL-4) and cytotoxic T lymphocyte protein 4 (CTLA-4) gene polymorphisms in many types of cancers, including HCC that are either hepatitis B virus (HBV)- or hepatitis C Virus (HCV)-induced.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hepatocellular carcinoma | “Association of CTLA-4 and IL-4 polymorphisms in viral induced liver cancer.” | 0.93 | phenotype_alias_lexicon_v2 |
Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.
PMID 33122082 | DOI 10.1016/j.gene.2020.145270 · Gene · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.90 | hgvs_regex_v1 |
| gene | AIRE | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.98 | hgnc_dict_v1 |
| gene | CTLA4 | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.98 | phenotype_alias_lexicon_v2 |
Impact of cytotoxic T-lymphocyte-associated protein 4 codon 17 variant and expression on vitiligo risk.
PMID 33932254 | PMCID PMC8183918 | DOI 10.1002/jcla.23777 · Journal of clinical laboratory analysis · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “We aimed to explore the association of CTLA4 expression and rs231775 (c.49A>G) variant with vitiligo risk and severity of the disease in a sample of the Middle Eastern population.” | 0.90 | hgvs_regex_v1 |
| gene | CTLA4 | “Several CTLA4 polymorphisms were implicated in the regulation of gene expression.” | 0.98 | hgnc_dict_v1 |
| variant | c.49A>G | “We aimed to explore the association of CTLA4 expression and rs231775 (c.49A>G) variant with vitiligo risk and severity of the disease in a sample of the Middle Eastern population.” | 0.95 | hgvs_regex_v1 |
CTLA-4 (+49A/G) Polymorphism in Type 1 Diabetes Children of Sudanese Population.
PMID 33748819 | PMCID PMC7964255 | DOI 10.1055/s-0041-1723008 · Global medical genetics · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “Aims This study aimed to investigate the association of CTLA-4 +49A/G (rs231775) polymorphism with a risk of T1DM in Sudanese children.” | 0.90 | hgvs_regex_v1 |
| phenotype | diabetes mellitus | “CTLA-4 (+49A/G) Polymorphism in Type 1 Diabetes Children of Sudanese Population.” | 0.93 | phenotype_alias_lexicon_v2 |
Signal peptide missense variant in cancer-brake gene CTLA4 and breast cancer outcomes.
PMID 32044407 | DOI 10.1016/j.gene.2020.144435 · Gene · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231775 | “Hence, this study is designed to assess the association of CTLA4 (c.49A>G, rs231775) variant with the outcome of breast carcinoma.” | 0.90 | hgvs_regex_v1 |
| gene | CTLA4 | “Signal peptide missense variant in cancer-brake gene CTLA4 and breast cancer outcomes.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Signal peptide missense variant in cancer-brake gene CTLA4 and breast cancer outcomes.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.49A>G | “Hence, this study is designed to assess the association of CTLA4 (c.49A>G, rs231775) variant with the outcome of breast carcinoma.” | 0.95 | hgvs_regex_v1 |