<i><scp>FOXP</scp>3</i> rs3761548 polymorphism is associated with knee osteoarthritis in a Turkish population

Çekin, Nilgün; Pınarbaşı, Ergün; Bildirici, Aslihan Esra; Dönmez, Gonca; Öztemür, Zekeriya; Bulut, Okay; Arslan, Serdal

doi:10.1111/1756-185x.13337

Cited by 10 publications

(12 citation statements)

References 32 publications

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“…We thought that the conflicting observations were conduced mainly by ethnic and geographic differences. Mutation of the genotype of rs3761548 mostly affects the expression and activity of FOXP3 protein, which was further involved in many autoimmune diseases including rheumatoid arthritis [42], allergic rhinitis [43], and autoimmune thyroid disease [44]. Our study showed that FOXO3 rs3761548 was not found to be related to preeclampsia in Northeast women of China based on the present date.…”

Section: Summary Of Key Resultsmentioning

confidence: 53%

Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study

Pan

Wei

Wang

et al. 2020

BMC Pregnancy Childbirth

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Background Both genetic susceptibility and dysregulated lipid metabolism are important susceptibilities to preeclampsia. In the study, we devote to investigate the associations of FOXO3 and TLR7 genetic polymorphisms with preeclampsia in a Chinese population. Methods This case-control study involved 335 Han Chinese pregnant women, including 177 pregnant women with preeclampsia and 158 healthy controls. The preeclampsia group was further sub-grouped into early-onset preeclampsia (EOPE, n = 70)and late-onset preeclampsia (LOPE, n = 107. Three single nucleotide polymorphisms (SNPs), including FOXO3 (rs2232365, rs3761548), and TLR7 rs3853839 were genotyped by multiplex PCR for targeted next-generation sequencing. The χ2 test and multiple interaction effect analyses were performed to determine the association of three SNPs with serum lipid levels and thyroid function in women with preeclampsia. Results The genotype (CC vs. TT + CT) distribution of rs2232365 revealed a significant association with LOPE (P = 0.004, odds ratio = 3.525 (0.95 CI: 1.498–8.164)). No significant difference was found in the genotype and allele frequencies of rs3761548 and rs3853839 between controls and cases (P > 0.05). Moreover, the genotype CT/TT of rs2232365 was significantly correlated with increased TG/HDL levels in the LOPE group (p = 0.014). Conclusions The polymorphisms of rs2232365 are associated with the risk of LOPE and may modulate TG/HDL levels in pregnant women with LOPE.

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Section: Summary Of Key Resultsmentioning

confidence: 53%

Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study

Pan

Wei

Wang

et al. 2020

BMC Pregnancy Childbirth

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“…This minor allele frequency (MAF) is in line with the Egyptian study (0.34), [43] but different from those reported in Turkish and Indian populations, 0.61 and 0.56, respectively. [44,45] This variability in the results of the studies may be due to ethnic factors and the size of the sample studied [Table 3].…”

Section: Discussionmentioning

confidence: 99%

Association of IL4 rs2070874, FoxP3 rs3761548 Polymorphisms with Keratoconus in Algeria

Meteoukki

Mostefa

Negaz

et al. 2021

JOVR

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Purpose: The aim of this case–control study was to determine the impact of environmental factors on the predisposition to develop keratoconus in a sample of Western Algerian population. Subsequently, we were interested in the implication of two single nucleotide polymorphisms (SNPs) IL4 rs2070874 and FOXP3 rs3761548, previously described as contributing to the occurrence of allergy, in the development of keratoconus. Methods: The study included 70 unrelated KC cases and 70 controls originating from Western Algeria. DNA genotyping was done using predesigned probe-based allelic discrimination TaqMan® assays. Allele and genotype frequencies were compared between the cases and controls by Chi-square test and odds ratios with 95% confidence intervals. Results: A significant association between risk factors such as family history, atopy, eye rubbing, and the development of keratoconus was found in our sample. Smoking would provide a protective effect against the pathology. No statistically significant differences were found in the allele and genotype frequencies between cases and controls neither for IL4 rs2070874 nor for FOXP3 rs3761548. Conclusion: Our study provides, for the first time, a clear demonstration of the absence of association of the allergy-associated IL4 and FOXP3 polymorphisms with KC in a sample from Western Algerian population.

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“…www.nature.com/scientificreports/ Regarding the -924 G > A (rs2232365), we did not find any association of this variant and SLE susceptibility and clinical parameters. Although the -924 G > A FOXP3 variant (rs2232365) was evaluated in other autoimmunity diseases [23][24][25] this is the first study to evaluate this variant in SLE patients. The G > A substitution of FOXP3 -924 is located in a putative-binding site for the transcription factor GATA-3 39 .…”

Section: Discussionmentioning

confidence: 99%

Haplotypes of FOXP3 genetic variants are associated with susceptibility, autoantibodies, and TGF-β1 in patients with systemic lupus erythematosus

Stadtlober

Flauzino

Santos

et al. 2021

Sci Rep

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The aim of this study was to evaluate the association of rs2232365 (-924 G > A) and rs3761548 (-3279 C > A) FOXP3 variants with systemic lupus erythematosus (SLE) susceptibility, TGF-β1 plasma levels, autoantibodies, and LN nephritis, and SLE disease activity index (SLEDAI). The study included 196 SLE female patients and 157 female controls. FOXP3 variants were determined with polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP). Plasma levels of TGF-β1 were determined using immunofluorimetric assay. The AA genotype [OR: 2.650, CI 95%(1.070–6.564), p = 0.035] and A allele [OR: 2.644, CI 95%(1.104–6.333), p = 0.029] were associated with SLE diagnosis in the -3279 C > A. The A/A haplotype was associated with SLE [OR: 3.729, CI 95%(1.006–13.820), p = 0.049]. GCGC haplotype patients had higher TGF-β1 levels (p = 0.012) than other haplotypes. Patients with -924 AA genotype showed higher frequency of anti-dsDNA (p = 0.012) and anti-U1RNP (p = 0.036). The A/C haplotype had higher SLEDAI score [OR: 1.119, CI 95%(1.015–1.234), p = 0.024] and ACAC haplotype higher frequency of anti-dsDNA [OR: 3.026, CI 95%(1.062–8.624), p = 0.038], anti-U1RNP [OR: 5.649, CI 95%(1.199–26.610), p = 0.029] and nephritis [OR: 2.501, CI 95%(1.004–6.229), p = 0.049]. Our data demonstrate that the G/C haplotype provides protection for SLE. While the presence of allele A of both variants could favor autoimmunity, disease activity, and LN.

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FOXP3 rs3761548 polymorphism is associated with knee osteoarthritis in a Turkish population

Abstract: 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.

Cited by 10 publications

References 32 publications

Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study

Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study

Association of IL4 rs2070874, FoxP3 rs3761548 Polymorphisms with Keratoconus in Algeria

Haplotypes of FOXP3 genetic variants are associated with susceptibility, autoantibodies, and TGF-β1 in patients with systemic lupus erythematosus

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