Association of FoxP3 promoter polymorphisms with the risk of Graves' disease in ethnic Kashmiri population

Shehjar, Faheem; Afroze, Dil; Misgar, Raiz Ahmad; Malik, Sajad Ahmad; Laway, Bashir Ahmad

doi:10.1016/j.gene.2018.06.023

Cited by 19 publications

(34 citation statements)

References 26 publications

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“…According to the results of our meta-analysis, a significant allelic effect of the variant allele was observed in GD patients, which was indeed suggestive of the genetic effect of rs3761548 in conferring an increasing predisposition to GD. Four out of seven included studies (32,34,35,37) reported significantly higher frequency of A allele in GD patients than controls, with an estimate of OR ranging from 1.48 to 1.82, whereas the other three studies (30,31,36) included negative findings. The main source of heterogeneity among Asians was deemed to be Yuan's study, since the intra-heterogeneity decreased from 75 to 57% after its removal (36).…”

Section: Discussionmentioning

confidence: 98%

“…Seven studies (30-32, 34-37) investigated the genetic effect of rs3761548 on the risk of GD, however, achieving inconsistent results. Four studies (32,34,35,37) reported significantly higher frequency of A allele in GD groups than control groups, while the other three studies (30,31,36) failed to replicate these positive findings. Under the random-effect model, the variant allele of rs3761548 polymorphism was associated with 25% higher risk of GD compared to reference allele in the overall population (OR = 1.25, 95%CI 1.02, 1.54; P = 0.03).…”

Section: Rs3761548mentioning

confidence: 91%

“…All the studies were published between 2006 and 2019, with the sample size ranging from 180 to 2,568. The majority of studies were performed in China (35)(36)(37) and India (31,34), the remaining studies were carried out in Poland (30), UK (33), and Japan (32), respectively. Two widely used techniques for genotyping were used by our included studies, namely TaqMan and polymerase chain reaction-restricted fragment length polymorphisms (PCR-RFLP).…”

Section: Main Characteristics and Quality Assessmentmentioning

confidence: 99%

“…Six studies addressed the relationship between rs3761547 and risk of GD, including five studies (32,(34)(35)(36)(37) on Asian population and one study (30) on Caucasian population. The pooled results showed that the minor allele of rs3761547 was not associated with risk of GD in the overall population (OR = 1.09, 95%CI 0.99, 1.20; P = 0.09), no significant heterogeneity was detected (I 2 = 0%, P = 0.60).…”

Section: Rs3761547mentioning

confidence: 99%

“…Subgroup analysis by ethnicity showed different genetic effect of rs3761549 among Asians (OR: 1.30, 95%CI 1.03, 1.64; P = 0.03) and Caucasians (OR: 1.31, 95%CI 0.55, 3.14; P = 0.54) ( Figure 5). The potential source of heterogeneity across studies was deemed to be Shehjar's study (34), as the intra-study heterogeneity decreased to 35% (P = 0.19) after its exclusion. No significant publication bias was observed (Egger's test: t = 1.34, P = 0.228; Begg's test: z=0.87, P = 0.386).…”

Section: Rs3761549mentioning

confidence: 99%

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The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

et al. 2020

Front. Endocrinol.

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Purpose: This systematic review and meta-analysis was carried out with the aim of investigating the relationship between Foxp3 polymorphisms (rs3761547, r3761548, and rs3761549) and the risk of Graves' disease (GD). Methods: Four online database including PubMed, EMBASE, ISI Web of Science, and CNKI were searched to identify observational studies that evaluated the association between Foxp3 polymorphisms and risk of GD. The strength of associations was indicated as odds ratio (OR) and corresponding 95% confidence interval (95%CI) under the allelic model. The Newcastle-Ottawa Scale was used to assess the methodological quality. Pre-specified subgroup analysis and sensitivity analysis were performed using RevMan 5.3 software. Publication bias was detected by Egger's and Begg's tests. Results: Eight case control studies involving 3,104 GD patients and 3,599 healthy controls were included. The methodological quality of included studies was considered to be moderate to high. The results of our meta-analysis supported no association of rs3761547 and risk of GD in Asians (OR: 1.07, 95%CI 0.97, 1.19, P = 0.18). Evidence for rs3761547 and GD risk among Caucasians was still limited because only one study reported marginally increased risk of GD with the minor allele of rs3761547 (P = 0.04). The variant allele of both rs3761548 (OR: 1.31, 95%CI 1.04, 1.64; P = 0.02) and rs3761549 (OR: 1.30, 95%CI 1.03, 1.64; P = 0.03) was associated with increased risk of GD among Asians, but neither polymorphism turned out to be related with GD among Caucasians. Conclusion: Rs3761548 and rs3761549 polymorphisms in Foxp3 were associated with risk of GD among Asians, possibly due to suppressed function of regulatory T cells and augmented autoimmune response. Their genetic effect among Caucasians remained to be confirmed by future large-scale and well-designed studies.

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Section: Discussionmentioning

confidence: 98%

Section: Rs3761548mentioning

confidence: 91%

Section: Main Characteristics and Quality Assessmentmentioning

confidence: 99%

Section: Rs3761547mentioning

confidence: 99%

Section: Rs3761549mentioning

confidence: 99%

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The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

et al. 2020

Front. Endocrinol.

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Association of genetic variations in FoxP3 gene with Graves' disease in a Southwest Chinese Han population

Tan,

Zheng,

et al. 2023

Immunity Inflam & Disease

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BackgroundGraves' disease (GD) is a T cell‐mediated organ‐specific autoimmune disease. Forkhead box P3 (FoxP3) is an excellent marker for the induction and development of regulatory T cells (Tregs). Recent studies showed that single‐nucleotide polymorphisms (SNPs) in the FoxP3 gene were associated with the increased susceptibility to several autoimmune diseases. In the present study, we investigated the association of FoxP3 gene polymorphisms with GD in a Southwest Chinese Han population.MethodsA two‐stage case‐control study was performed in 890 healthy controls (male, 282; female, 608) and 503 patients with GD (male, 138; female, 365). Four SNPs (rs3761548, rs3761549, rs3761547, and rs2280883) were genotyped by the polymerase chain reaction‐restriction fragment length polymorphism assay. The χ2 test was used to compare the genotype distributions and allele frequencies between GD patients and healthy controls.ResultsIn the first stage, the significantly increased frequencies of the A allele (p = .031, odds ratio [OR] = 1.635) and AA genotype (p = .023, OR = 3.257), together with a significantly decreased frequency of the C allele (p = .031, OR = 0.611) of FoxP3/rs3761548 were found in female patients with GD. None of the other FoxP3 SNPs was associated with GD susceptibility. Subsequent validation and combination of data confirmed the association between FoxP3/rs3761548 and the female patients with GD (A allele: p < .001, OR = 1.672; AA genotype: p = .005, OR = 2.488; CC genotype: p = .001, OR = 0.622; C allele: p < .001, OR = 0.615, respectively).ConclusionOur findings suggest that FoxP3/rs3761548 is significantly associated with female GD patients in a Southwest Chinese Han population.

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Circulating microRNA-144-3p and miR-762 are novel biomarkers of Graves’ disease

Yao

Wang

et al. 2019

Endocrine

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Association of FoxP3 promoter polymorphisms with the risk of Graves' disease in ethnic Kashmiri population

Cited by 19 publications

References 26 publications

The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

Association of genetic variations in FoxP3 gene with Graves' disease in a Southwest Chinese Han population

Circulating microRNA-144-3p and miR-762 are novel biomarkers of Graves’ disease

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