rs2232365, FOXP3

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.010 GeneticVariation BEFREE Together, our findings indicated that <i>FOXP3</i> (rs3761548, rs2232365, and rs2294021) variations increased the risk of UC and were associated with the lower colonic expression of <i>FOXP3</i> in UC patients. 30918515 2019
Human papilloma virus infection
CUI: C0343641
Disease: Human papilloma virus infection
0.010 GeneticVariation BEFREE In addition, the homozygous genotype (G/G) of the rs2232365 variants (related to increased FOXP3 expression) was independently associated with the HPV infection (OR<sub>Adj</sub>: 2.10; 95% CI 1.06-4.15; p = 0.033). 31177386 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
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.010 GeneticVariation BEFREE Meta-analysis of FOXP3 gene rs3761548 and rs2232365 polymorphism and multiple sclerosis susceptibility. 31567981 2019
Acute GVH disease
CUI: C0856825
Disease: Acute GVH disease
0.010 GeneticVariation BEFREE rs3761549, rs5902434, and rs2232365 are associated with an increased risk of acute GVHD and decreased risk of post-HSCT infection. 30027704 2018
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
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
0.010 GeneticVariation BEFREE Of note, the synergic effects of the genotypes and chromosomal abnormality all tallied with the sub-multiplication model (OR<sub>chromosome</sub> × OR<sub>SNP</sub> > OR<sub>chromosome+SNP</sub>), while rs2232365 GG and chromosomal aberration impacted the RSA risk in a super-multiplicative way that OR<sub>chromosome</sub> × OR<sub>SNP</sub> < OR<sub>chromosome+SNP</sub>. 29476189 2018
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
0.010 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 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
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.010 GeneticVariation BEFREE In addition, rs2232365 GG genotype was associated with AS</span>D in dominant inheritance model. 27751813 2017
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE Interestingly, multifactor dimension reduction analysis suggested an increased risks of nearly 6-folds for ESRD and 23-folds for ARE cases under the six factors model which consists of tag-SNPs of FOXP3 (rs2232365, rs3761548, rs5902434 and rs2294021) and NF-kB1 (rs28362491 and rs696). 26794449 2016
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.010 GeneticVariation BEFREE Interestingly, multifactor dimension reduction analysis suggested an increased risks of nearly 6-folds for ESRD and 23-folds for ARE cases under the six factors model which consists of tag-SNPs of FOXP3 (rs2232365, rs3761548, rs5902434 and rs2294021) and NF-kB1 (rs28362491 and rs696). 26794449 2016
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE The expression quantitative trait loci (eQTL) analysis revealed a significant gender effect of the FoxP3 promoter polymorphism rs3761548A/C on miR-221, miR-222 and miR-532 expression levels, and of the FoxP3 polymorphism rs2232365A/G on miR-221 expression levels in PBMC of RA patients. 27834806 2016
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 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
CUI: C0042900
Disease: Vitiligo
0.010 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