rs3761548, FOXP3

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Endometriosis
CUI: C0014175
Disease: Endometriosis
0.010 GeneticVariation BEFREE No associations were found with rs3761548 and rs2232366 either for endometriosis-related infertility group or idiopathic infertility group. 21481380 2011
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
0.030 GeneticVariation BEFREE The results demonstrated that females homozygous for the rare FOXP3 rs3761548 allele (A/A) are protected against AR; otherwise, females who are either wild types (C/C) or heterozygote carriers (C/A) of the rare allele are more susceptible to AR (OR [95%CI] = 2.089 [1,095; 3.988]). 21763379 2011
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
0.030 GeneticVariation BEFREE The diplotype rs3761548-rs4824747 in FOXP3 gene with "AG" was associated with risk of AR (P=0.031, OR=1.755). 22836044 2012
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
0.020 GeneticVariation BEFREE Our results showed that single nucleotide polymorphism rs3761548 had association with ACS in Chinese Han population. 23299803 2013
Vitiligo
CUI: C0042900
Disease: Vitiligo
0.020 GeneticVariation BEFREE The rs3761548 of FOXP3 gene in our population may be associated with susceptibility to vitiligo because of altered expression. 23498308 2013
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.020 GeneticVariation BEFREE The rs3761548 of FOXP3 gene in our population may be associated with susceptibility to vitiligo because of altered expression. 23498308 2013
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE The rs3761548 polymorphism (-3279 C>A) of FOXP3 gene is associated with several autoimmune disorders. 23498308 2013
Vitiligo
CUI: C0042900
Disease: Vitiligo
0.020 GeneticVariation BEFREE Significantly increased vitiligo risk was associated with the rs2232365 GG [odds ratio (OR) 1·68, 95% confidence interval (CI) 1·17-2·39, P = 0·004] and rs3761548 AA (OR 1·82, 95% CI 1·10-3·01, P = 0·033) genotypes compared with the rs2232365 AA and rs3761548 CC genotypes. 23582052 2013
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.020 GeneticVariation BEFREE Significantly increased vitiligo risk was associated with the rs2232365 GG [odds ratio (OR) 1·68, 95% confidence interval (CI) 1·17-2·39, P = 0·004] and rs3761548 AA (OR 1·82, 95% CI 1·10-3·01, P = 0·033) genotypes compared with the rs2232365 AA and rs3761548 CC genotypes. 23582052 2013
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.010 GeneticVariation BEFREE Single-marker analysis of allelic and genotype frequencies revealed that SNP rs3761548 was not associated with systemic sclerosis susceptibility. 23707908 2013
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE FoxP3 rs3761548 polymorphism predicts autoimmune disease susceptibility: a meta-analysis. 23993983 2013
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.020 GeneticVariation BEFREE Because a single nucleotide polymorphism (SNP) within the FoxP3 gene (rs3761548 in the promoter region) is associated with susceptibility to Graves' disease, this study detected rs3761548 in a hospital-based case-control study. 24035934 2013
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The data showed that the A allele of rs3761548 significantly increased NSCLC risk (P=0.000, OR=2.32, 95%CI=1.736-3.102). 24035934 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Foxp3 promoter polymorphism (rs3761548) in breast cancer progression: a study from India. 24338714 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Foxp3 promoter polymorphism (rs3761548) in breast cancer progression: a study from India. 24338714 2014
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
0.020 GeneticVariation BEFREE Stratified data also revealed an association of homozygous mutant genotype with advanced stage of tumor in premenopausal women (OR = 4.56; 95% CI = 1.07-19.38; p = 0.04) with disease duration of <6 months (OR =  .10; 95% CI = 1.80-20.50; p = 0.002) suggestive of modulating effect of rs3761548 in tumor progression. 24338714 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE However, with respect to AA genotype of rs3761548, we found highly significant association with the advanced stage (T3-4) of the tumor (OR = 3.90; 95% confidence interval (CI) = 1.56-9.70; p = 0.03). 24338714 2014
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE This study aimed to investigate a polymorphism (rs3761548) and the protein expression of FOXP3 for a possible involvement in TNBC susceptibility and prognosis. 24877082 2014
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE This study aimed to investigate a polymorphism (rs3761548) and the protein expression of FOXP3 for a possible involvement in TNBC susceptibility and prognosis. 24877082 2014
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE The frequencies of AA and AC genotypes at rs3761548 in the FOXP3 gene were significantly higher in MS group as compared with healthy subjects (P < 0.05). 25326790 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE Moreover, the A allele of rs3761548 was observed to be associated with higher susceptibility of CRC [OR (95% CI) = 1.792 (1.424-2.254)]. 25416053 2014
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Association of FoxP3 rs3761548 polymorphism with susceptibility to colorectal cancer in the Chinese population. 25416053 2014
Hepatic Veno-Occlusive Disease
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
0.010 GeneticVariation BEFREE In conclusion, this is the first report on FOXP3 rs3761548 SNP in allo-HSCT and we suggest that this SNP be considered a candidate marker for predicting the development of HVOD and CMV infection after allo-HSCT. 26735609 2016
Cytomegalovirus Infections
CUI: C0010823
Disease: Cytomegalovirus Infections
0.010 GeneticVariation BEFREE In conclusion, this is the first report on FOXP3 rs3761548 SNP in allo-HSCT and we suggest that this SNP be considered a candidate marker for predicting the development of HVOD and CMV infection after allo-HSCT. 26735609 2016
Graft-vs-Host Disease
CUI: C0018133
Disease: Graft-vs-Host Disease
0.010 GeneticVariation BEFREE However, there was no difference in graft-versus-host disease (GVHD) relapse or blood stream infection (BSI), depending on the genotype at rs3761548 locus. 26735609 2016