rs3761548, FOXP3

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE While no significant results were observed in overall and breast cancer groups for rs3761548 (A/C) polymorphisms, the pooled data showed an elevated risk of cancer in variant AA genotypes and A allele for Chinese population (AA vs. AC+CC: OR = 1.61, 95% CI = 1.09, 2.39; AA vs. CC: OR = 1.74, 95% CI = 1.05, 2.89; A vs. C: OR = 1.34, 95% CI = 1.00, 1.78). 30782783 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE While no significant results were observed in overall and breast cancer groups for rs3761548 (A/C) polymorphisms, the pooled data showed an elevated risk of cancer in variant AA genotypes and A allele for Chinese population (AA vs. AC+CC: OR = 1.61, 95% CI = 1.09, 2.39; AA vs. CC: OR = 1.74, 95% CI = 1.05, 2.89; A vs. C: OR = 1.34, 95% CI = 1.00, 1.78). 30782783 2019
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE The aim of this study was to evaluate the association between rs3761548 FOXP3 (-3279 C > A) variant and multiple sclerosis (MS), disability, disability progression, as well as transforming growth factor (TGF)-β1 and interleukin (IL)-10 plasma levels in MS patients. 31414141 2019
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE FOXP3 gene polymorphism rs3761548 was associated with a higher MS risk, especially in Asians. 31567981 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Our study suggests that <i>FOXP3</i> polymorphism rs3761548 is associated with BC susceptibility in the Chinese and may be involved in tumor progression. 29731666 2018
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE The purpose of our study was to evaluate the association of chosen polymorphisms of FOXP3 gene (rs3761549, rs3761548, rs3761547) with different clinical multiple sclerosis (MS) data of our relapsing-remitting groups of patients and in control group. 30229436 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Our study suggests that <i>FOXP3</i> polymorphism rs3761548 is associated with BC susceptibility in the Chinese and may be involved in tumor progression. 29731666 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE In this context, the present study aimed to evaluate the g.10403A>G (rs2232365) polymorphisms and g.8048A>C (rs3761548), in aggressive breast cancer (BC) subtypes, including, Luminal B HER2+ (LB), HER2-enriched (HER2+), and triple-negative (TN). 28713192 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE In this context, the present study aimed to evaluate the g.10403A>G (rs2232365) polymorphisms and g.8048A>C (rs3761548), in aggressive breast cancer (BC) subtypes, including, Luminal B HER2+ (LB), HER2-enriched (HER2+), and triple-negative (TN). 28713192 2017
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
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
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
0.030 GeneticVariation BEFREE In summary, no significant association between rs3761548, rs2232365 polymorphisms of the FOXP3 gene, and an increased susceptibility to allergic rhinitis was identified based on the published data; however, this conclusion should be confirmed by more studies with increased sample sizes. 28741671 2017
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
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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE While no significant results were observed in overall and breast cancer groups for rs3761548 (A/C) polymorphisms, the pooled data showed an elevated risk of cancer in variant AA genotypes and A allele for Chinese population (AA vs. AC+CC: OR = 1.61, 95% CI = 1.09, 2.39; AA vs. CC: OR = 1.74, 95% CI = 1.05, 2.89; A vs. C: OR = 1.34, 95% CI = 1.00, 1.78). 30782783 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE While no significant results were observed in overall and breast cancer groups for rs3761548 (A/C) polymorphisms, the pooled data showed an elevated risk of cancer in variant AA genotypes and A allele for Chinese population (AA vs. AC+CC: OR = 1.61, 95% CI = 1.09, 2.39; AA vs. CC: OR = 1.74, 95% CI = 1.05, 2.89; A vs. C: OR = 1.34, 95% CI = 1.00, 1.78). 30782783 2019
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.020 GeneticVariation BEFREE We analyzed the association between CTLA-4 rs231775 and FOXP3 rs3761548, rs3761549 polymorphisms and predisposition to autoimmune thyroid disease (AITD), inclusive of Hashimoto's thyroiditis (HT) and Graves' disease (GD) in South-Indian population. 30771152 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE In addition, CA, CA/AA genotype, and A allele of rs3761548 were related to larger tumor size, and the A allele was also correlated with a positive status of Her-2 in BC patients. 29731666 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE Our results suggest that rs3761548 polymorphism is associated with cancer risk. 30142808 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE Our results suggest that rs3761548 polymorphism is associated with cancer risk. 30142808 2018
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
0.020 GeneticVariation BEFREE Our study suggests that <i>FOXP3</i> polymorphism rs3761548 is associated with BC susceptibility in the Chinese and may be involved in tumor progression. 29731666 2018
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
0.020 GeneticVariation BEFREE However, rs3761548 C allele was more prevalent in controls compared with patients with ACS (P = 0.024). 26931655 2016
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
0.020 GeneticVariation BEFREE In the present study, we analysed the expression of FOXP3 as well as the association between two variants in this gene (rs3761548A/C and rs5902434del/ATT) and occurrence of ACS in Iranian patients. 26931655 2016
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