rs3761548, FOXP3

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
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
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
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
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
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
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
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
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
Squamous intraepithelial lesion
CUI: C0333873
Disease: Squamous intraepithelial lesion
0.010 GeneticVariation BEFREE The present study evaluated the effects of the rs3761548 and rs2232365 intronic single-nucleotide variants (SNVs) and their haplotypes on HPV infection and SIL diagnosis in HPV-infected and -uninfected women. 31177386 2019
Human papilloma virus infection
CUI: C0343641
Disease: Human papilloma virus infection
0.010 GeneticVariation BEFREE The homozygous genotype of the rs3761548 variants (A/A) (related to decreased FOXP3 expression) may exert a protective role against HPV infection in women (OR<sub>Aj</sub>: 0.60; 95% CI 0.36-0.99; p = 0.049) and was an independent predictor of protection against HSIL development (OR<sub>Adj</sub>: 0.28; 95% CI 0.11-0.68; p = 0.006). 31177386 2019
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
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
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
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Our results suggest that the frequency of the A allele in rs3761548 in patients with EC was significantly lower than that in healthy controls (20.3% vs 26.4%, odds ratio [OR] 0.71, 95% confidence interval [CI]: 0.54-0.93, P = .012), while the heterozygous AC genotype showed a significant protective effect on EC in codominant, dominant, and overdominant models (adjusted OR 0.64, 95% CI: 0.45-0.91, P = .039; OR 0.65, 95% CI: 0.47-0.91, P = .011; OR 0.67, 95% CI: 0.47-0.94, P = .02, respectively), and AA genotype was more frequent in patients with cervical invasion (recessive model: OR 3.55, 95% CI: 1.10-11.44, P = .046). 29718856 2018
Peptic Ulcer
CUI: C0030920
Disease: Peptic Ulcer
0.010 GeneticVariation BEFREE The AA genotype and A allele at rs3761548 could represent a risk factor for PU development. 29938865 2018
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.010 GeneticVariation BEFREE Our results suggest that the frequency of the A allele in rs3761548 in patients with EC was significantly lower than that in healthy controls (20.3% vs 26.4%, odds ratio [OR] 0.71, 95% confidence interval [CI]: 0.54-0.93, P = .012), while the heterozygous AC genotype showed a significant protective effect on EC in codominant, dominant, and overdominant models (adjusted OR 0.64, 95% CI: 0.45-0.91, P = .039; OR 0.65, 95% CI: 0.47-0.91, P = .011; OR 0.67, 95% CI: 0.47-0.94, P = .02, respectively), and AA genotype was more frequent in patients with cervical invasion (recessive model: OR 3.55, 95% CI: 1.10-11.44, P = .046). 29718856 2018
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
0.010 GeneticVariation BEFREE Here, we investigated IL-35 levels and a single nucleotide polymorphism, rs3761548, in FOXP3 gene in Helicobacter pylori-infected patients with peptic ulcer (PU), to clarify possible associations. 29938865 2018
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that the frequency of the A allele in rs3761548 in patients with EC was significantly lower than that in healthy controls (20.3% vs 26.4%, odds ratio [OR] 0.71, 95% confidence interval [CI]: 0.54-0.93, P = .012), while the heterozygous AC genotype showed a significant protective effect on EC in codominant, dominant, and overdominant models (adjusted OR 0.64, 95% CI: 0.45-0.91, P = .039; OR 0.65, 95% CI: 0.47-0.91, P = .011; OR 0.67, 95% CI: 0.47-0.94, P = .02, respectively), and AA genotype was more frequent in patients with cervical invasion (recessive model: OR 3.55, 95% CI: 1.10-11.44, P = .046). 29718856 2018
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