rs3761548, FOXP3

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE Our results suggest that rs3761548 polymorphism is associated with cancer risk. 30142808 2018
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE FoxP3 rs3761548 polymorphism predicts autoimmune disease susceptibility: a meta-analysis. 23993983 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
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
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
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
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
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
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
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
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.010 GeneticVariation BEFREE However, IL-10 (rs1800896) and FOXP3 (rs3761548) gene polymorphisms were not associated with psoriasis risk. 28027921 2017
Pemphigus Foliaceus
CUI: C0263313
Disease: Pemphigus Foliaceus
0.010 GeneticVariation BEFREE In the whole population, rs3761548, rs3761549 and rs2294021 were associated with the susceptibility to PF. 28216259 2017
Degenerative polyarthritis
CUI: C0029408
Disease: Degenerative polyarthritis
0.010 GeneticVariation BEFREE Our findings indicated that the association between FOXP3 rs2232365 polymorphism and knee OA tended to yield negative results but the FOXP3 rs3761548 C allele was associated with elevated risk of OA in Grade 4 knee OA patients in a Turkish population. 30168273 2018
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
Autoimmune thyroid disease (AITD)
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
0.010 GeneticVariation BEFREE There was no allelic association of rs3761548 and rs3761549 polymorphisms with AITD susceptibility, albeit a significant difference in genotype distribution with respect to rs3761549. 30771152 2019
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
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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.010 GeneticVariation BEFREE The variant allele of rs3761548 was increased in male patients with penetrating CD compared to those with non-stricturing, non-penetrating CD. 30710380 2019
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
Osteoarthritis, Knee
CUI: C0409959
Disease: Osteoarthritis, Knee
0.010 GeneticVariation BEFREE FOXP3 rs3761548 polymorphism is associated with knee osteoarthritis in a Turkish population. 30168273 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE Evaluation of the genetic variations in position SNP rs3761548</span> revealed that the AA genotype and A allele were more prevalent whereas CC genotype and C allele were less prevalent in PC patients when compared with healthy men (P < 0.01, P < 0.001, P < 0.002 and P < 0.001, respectively). 30057362 2019
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
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
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.010 GeneticVariation BEFREE We observed significantly higher occurrence of mutant genotypes of tag-SNPs of FOXP3 namely; rs2232365 and rs3761548 along with NF-kB1 namely; rs28362491 and rs696 in ESRD and ARE cases, suggested a risk association for ESRD and ARE. 26794449 2016
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
0.010 GeneticVariation BEFREE Haplotype analysis revealed an increased frequency of rs3761548 "C"-rs3761549 "T" in HT and GD subjects, thereby associating it with disease predisposition (p = 0.03). 30771152 2019