FOXP3 Gene Polymorphism Research Articles

Analysis of FOXP3 gene in children with allergy and autoimmune diseases

BackgroundAllergy and autoimmunity are important immunological entities underlying chronic diseases in children. In some cases both entities develop simultaneously in the same patient. FOXP3 gene codes for a transcription factor involved in regulation of the immune system.Considering that regulatory T cells are involved in controlling immunological disease development, and the relevant role of FOXP3 in this kind of T cells, the objective of this study was to analyse the FOXP3 gene in the most prevalent autoimmune diseases and/or allergies in childhood in a European population. MethodsA total of 255 Caucasian individuals, 95 controls and 160 patients diagnosed with allergic, autoimmune or both diseases were included in this study. The molecular analysis of FOXP3 was performed by DNA sequencing following the recommendations for quality of the European Molecular Genetics Quality Network. Genomic DNA was extracted from peripheral blood of all participants and was amplified using the polymerase chain reaction. After the visualisation of the amplified fragments by agarose gel-electrophoresis, they were sequenced. ResultsThirteen different polymorphisms in FOXP3 gene were found, seven of which had not been previously described. The mutated allele of SNP 7340C>T was observed more frequently in the group of male children suffering from both allergic and autoimmune diseases simultaneously (p=0.004, OR=16.2 [1.34–195.15]). ConclusionsIn this study we identified for first time genetic variants of FOXP3 that are significantly more frequent in children who share allergic and autoimmune diseases. These variants mainly affect regulatory sequences that could alter the expression levels of FOXP3 modifying its function including its role in Treg cells.

Foxp3 gene polymorphisms and haplotypes associate with susceptibility of Graves' disease in Chinese Han population.

Foxp3 plays important roles in the pathogenesis of autoimmune diseases. To investigate the association between Foxp3 gene polymorphisms and the susceptibility to Graves' disease (GD) in Chinese Han population, four single nucleotide polymorphisms (SNPs) including -2383, -3279, -3499 in the promoter and IVS9+459 in the intron were genotyped. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 308 GD patients and 306 healthy controls. The relative expression level of Foxp3 gene was measured by qRT-PCR. The frequencies of AA/CA genotype of -3279 and CC genotype of IVS9+459 were significantly higher in GD patients than healthy controls. The AA/CA genotype of -3279 in female GD patients was more frequent than the male. For -3279, GD patients with higher TSH level or/and lower TRAb level were more frequent to carry A allele. We further analyzed the haplotypes of three SNPs and found that the haplotype CCA played a protective role in the susceptibility to GD. In contrast, the CAA and TCA haplotypes were associated with an increased susceptibility to GD. In addition, the mutation from C to A at the position of -3279 reduced the relative luciferase activity of Foxp3 promoter and decreased the expression of Foxp3 in GD patients. Our findings indicated that Foxp3 functional polymorphisms and haplotypes in promoter were associated with the susceptibility to GD in Chinese Han population.

Genetic polymorphisms of Foxp3 in patients with rheumatoid arthritis.

The aim of the study was to identify 2 polymorphic variants in the promoter region of the Foxp3 gene and their possible association with susceptibility to and severity of rheumatoid arthritis (RA). The association between genetic factors and pathogenesis suggests that T cells take part in the induction of RA. The CD4+CD25highFoxp3+ subset of regulatory T cells plays an essential role in preventing autoimmunity and maintaining immune homeostasis. Patients with RA (n = 274) and healthy individuals (n = 295) were examined for -3279 C/A and -924 A/G Foxp3 gene polymorphisms by the polymerase chain reaction-restriction fragment-length polymorphism method. Serum Foxp3 levels in patients with RA and controls were measured with ELISA. Foxp3 -3279 A and -924 G alleles were associated with significantly elevated risk of RA in the population tested (p = 0.003 and p = 0.004, respectively) compared to the wild-type alleles. Overall, -3279 C/A and -924 A/G Foxp3 gene polymorphisms were in indistinct linkage disequilibrium with D' = 0.481 and r(2) = 0.225. From 4 possible haplotypes, frequencies of 2 (AG and CA) showed significant differences between both examined groups (respectively, p < 0.001 and p = 0.007). After appropriate adjustment of Bonferroni correction for multiple testing, the genotype-phenotype analysis showed no significant correlation of the Foxp3 -3279 C/A and -924 A/G polymorphisms with the disease activity, joint damage, laboratory variables, and extraarticular manifestation in patients with RA. Serum Foxp3 level was significantly higher in patients than in controls (p < 0.0001). Current findings indicated that the Foxp3 genetic polymorphism and the Foxp3 protein level may be associated with susceptibility to RA in the Polish population.

Association of FoxP3 rs3761548 polymorphism with susceptibility to colorectal cancer in the Chinese population.

The aim of the present study was to determine the association of the Forkhead box P3 (FoxP3) rs3761548 polymorphism with the risk of colorectal cancer (CRC). Polymorphism genotyping was detected with polymerase chain reaction-polyacrylamide gel electrophoresis (PCR-PAGE), and data revealed that the AA, AC, and the combined A variant genotype (AA+AC) conferred a significantly greater risk of CRC [OR (95% CI) = 2.806 (1.726-4.563), 1.54 (1.121-2.11), and 1.797 (1.344-2.404), respectively]. 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)]. Unfortunately, no significant association was observed between the two subgroups after stratification by clinical characteristics including age; gender; tumor size, growth pattern, or differentiation; lymph node metastasis; and TNM pathological stage. Thus, we concluded that the FoxP3 gene polymorphism contributes to CRC susceptibility in a Chinese population.

Circulating levels of interleukin-35 in patients with multiple sclerosis: evaluation of the influences of FOXP3 gene polymorphism and treatment program.

The regulatory T (Treg) cells play a major role in the control of the autoimmunity and inflammation, and IL-35 has been described as an immunosuppressive cytokine that is mainly produced by CD4(+)FOXP3(+) Treg cells. The aim of this study was to evaluate the serum levels of IL-35 and a single nucleotide polymorphism (SNP), rs3761548, in FOXP3 gene in patients with multiple sclerosis. The blood samples were collected from 140 multiple sclerosis (MS) patients (including 51 untreated and 89 treated patients) and 140 healthy subjects as a control group. The serum levels of IL-35 were measured by ELISA. The DNA was analyzed for SNP rs3761548 in FOXP3 gene using SSP-PCR. There was no significant difference between untreated MS patients and control group regarding the mean serum levels of IL-35, although this parameter was higher in untreated patients. However, the mean serum level of IL-35 in treated MS patients was significantly higher than that in the control group (P < 0.008). The mean serum levels of IL-35 in patients who were treated with interferon-β, methylprednisolone, or with the both interferon-β and methylprednisolone were significantly higher than that in the healthy group (P < 0.01, P < 0.01, and P < 0.2, respectively). The frequencies of AA and AC genotypes at rs3761548 in the FOXP3 gene were significantly higher in MS group as compared with healthy subjects (P < 0.05). The frequency of CC genotype at rs3761548 was significantly lower in the MS group in comparison with healthy control subjects (P < 0.001). Moreover, the frequency of A allele was significantly higher whereas the frequency of C allele was significantly lower in MS patients in comparison to healthy subjects (P < 0.001). The mean serum level of IL-35 was significantly lower in MS patients or healthy subjects with AA genotype as compared with those with CC genotype at rs3761548 in FOXP3 gene (P < 0.01 and P < 0.001, respectively). These results showed higher serum levels of IL-35 in treated MS patients representing that the benefit effects of treatment may in part performed through the upregulation of the IL-35 production. The SNP rs3761548 may influence the susceptibility to MS disease and the serum levels of IL-35.

The serum level of transforming growth factor beta1 and its association with Foxp3 gene polymorphism in Iranian women with recurrent spontaneous abortion

The aim of the study was to determine the role of transforming growth factor-beta1 (TGF-β1) and Foxp3 (rs3761548) promoter polymorphisms in Iranian women with recurrent spontaneous abortion (RSA). Eighty women with RSA were compared with eighty in a control group. Serum levels of TGF-β1 were measured using ELISA and Foxp3 (rs3761548) promoter polymorphisms using a PCR-RFLP technique. In addition, serum levels of TGF-β1 were compared in different genotypes in the two groups. The women's ages in the two groups were similar (30.15 ± 4.42 years [RSA] vs. 29.97 ± 4.51 [control]) as were serum TGF-β1 concentrations in case and control groups (53.42 ± 2.08 ng/ml in control and 56.31 ± 2.58 ng/ml in the RSA group; p = 0.4). Furthermore, there was no significant difference in the genotype frequencies of the rs3761548 Foxp3 gene between the two groups (p = 0.3) and the levels of TGF-β1 were similar in different genotypes. In conclusion, the data indicate that serum TGF-β1 levels and Foxp3 (rs3761548) promoter polymorphism is not a risk factor for RSA and that there is no association between the polymorphism and serum TGF-β1 levels.

Analysis of chosen polymorphisms in FoxP3 gene in children and adolescents with autoimmune thyroid diseases

Introduction: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory (Treg) cells. Moreover, it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases. The aim of our study was to estimate the association of three polymorphism of FOXP3 gene with the predisposition to Graves' disease (GD) and Hashimoto's thyroiditis (HT) in children and adolescents. Materials and methods: The study was performed in the group consisting of 145 patients with GD (mean age, 16.5 ± 2 years), 87 patients with HT (mean age, 15.2 ± 2.2 years) sequentially recruited from the endocrinology outpatient clinic and 161 healthy volunteers (mean age, 16.3 ± 3 years). DNA was extracted from the peripheral blood leukocytes using a classical salting-out method. The three single nucleotide polymorphisms (SNPs) rs3761549 (−2383C/T), rs3761548 (−3279G/T) and rs3761547 (−3499T/C) in the FOXP3 gene were genotyped by TaqMan SNP genotyping assay using the real-time PCR method. The levels of thyroid hormones, TSH and anti-thyroid autoantibody were determined using chemiluminescence method. Results: In our study, rs3761549G/A genotype was more frequent in female patients with GD in comparison to healthy female (15% vs. 7%, p = 0.033) with OR = 2.15 and 95% confidence interval for OR: 1.07–4.63. We have also observed rs3761547T/C to be more frequent in females with GD in comparison to control females, and this difference was close to statistically important (13% vs. 7%, p = 0.066) with OR = 1.99 and 95% confidence interval for OR: 0.96–4.48. There were no significant differences in males in analyzed SNPs and in females with rs3761548 SNP. Conclusion: In conclusion, these results may suggest that rs3761549G/A polymorphism in Foxp3 gene could contribute to GD development in females.

Analysis of chosen polymorphisms in FoxP3 gene in children and adolescents with autoimmune thyroid diseases

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Association of ESR and FOXP3 gene polymorphisms with outcome of ovarian stimulation in infertile females undergoing IVF

Background Estrogen receptor (ER) gene plays a major role in folliculogenesis, maturation of oocytes and fertilization of embryo. FOXP3 gene is a crucial regulatory factor for the development and function of Treg cells; it takes part as a central role in the induction and maintenance of fetal-maternal immunologic tolerance. Therefore, the present study was aimed to investigate the association of ESR and FOXP3 gene polymorphisms in infertile women who are undergoing in vitro fertilization (IVF) with poor ovarian reserve upon controlled ovarian hyperstimulation (COH) induced by follicle-stimulating hormone (FSH).

FOXP3 gene polymorphism is associated with hepatitis B-related hepatocellular carcinoma in China.

BackgroundPrevious evidence has shown that the FOXP3 gene was involved in the pathogenesis of several tumors; however, the correlation between single nucleotide polymorphisms (SNPs) in the FOXP3 gene and the susceptibility to hepatitis B-related hepatocellular carcinoma (HCC) remains unclear.MethodsWe analyzed two SNPs in the FOXP3 gene, rs2280883 and rs3761549, in 392 patients with HCC, 344 patients with chronic hepatitis B (CHB) and 372 matched healthy controls. Genotyping was performed by MALDI-TOF Mass Spectrometry for all donors.ResultsCompared to healthy controls, HCC patients had higher frequencies of the TT genotype (79.6%) at rs2280883 and the CC genotype (77.6%) at rs3761549 of the FOXP3 gene; CHB patients also had higher frequencies of the TT genotype (74.1%) at rs2280883 and the CC genotype (74.6%) at rs3761549. There were no significant differences in the distribution of FOXP3 genotypes between CHB donors and HCC donors. The TT genotype at rs2280883 was more frequent in patients with HCC than healthy donors (P = 0.01), but no significant difference was observed in this genotype between CHB and healthy donors (P = 0.479). C allele frequency at rs3761549 was higher in HCC patients than healthy donors (P = 0.03), but distribution of this allele was not significantly different between CHB patients and healthy donors (P = 0.11). Stratified analysis showed that the CC genotype at rs3761549 was significantly associated with a high incidence of portal vein tumor thrombus (P = 0.02) and that the TT/CT genotype at rs3761549 was significantly associated with an increased rate of tumor recurrence in HCC patients (P = 0.001).ConclusionsOur results suggested that the FOXP3 gene polymorphisms at rs2280883 and rs3761549 may be associated with hepatitis B-related HCC. At rs3761549, the CC genotype and the TT/CT genotype were associated with a high incidence of portal vein tumor thrombus and tumor recurrence, respectively.

Genetic variants of FOXP3 influence graft survival in kidney transplant patients

FOXP3(+) regulatory T cells (Treg) play a role in controlling alloreactivity. It has been shown that short (GT)n dinucleotide repeats (≤(GT)15; S) in the promoter region of the FOXP3 gene enhance the promoter activity when compared to long (GT)n repeats (≥(GT)16; L). The present study retrospectively investigated the influence of this (GT)n FOXP3 gene polymorphism on renal allograft survival. A total of 599 consecutive first-time kidney transplant patients (median follow-up time 7.7 years) were subdivided according to their FOXP3 genotype into the S-genotype group (SG) and the L-genotype group (LG). The SG was superior to the LG in both general graft survival censored for death (logrank test, p=0.013) and graft survival following acute rejection (p=0.021). Multivariate analysis defined the (GT)n FOXP3 dinucleotide repeat polymorphism as an independent factor and confirmed an advantage for the SG in renal allograft survival (HR=0.67, 95% CI 0.48-0.94, p=0.02). This gene association study identified a beneficial effect of FOXP3 genetic variants on graft survival in kidney transplant patients.

Association of FOXP3 gene polymorphism in Chinese women with endometriosis

To assess the association between single nucleotide polymorphisms (SNPs) of forkhead box P3 gene (FOXP3) and endometriosis in Chinese Han women from central China. MassARRAY IPLEX and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) technique was used to determine the genotypes of FOXP3 gene in 314 patients with endometriosis and 358 healthy controls. Genotypes of C/T polymorphism for the rs2280883 locus, A/C for the rs3761548 locus, and C/T for the rs3761549 locus were determined. No significant difference was detected in distribution of genotypes CC, CT and TT (P=0.770, OR=0.960; P=0.923, OR=1.013) and frequencies of C and T alleles (P=0.772, OR=0.960; P=0.925, OR=1.013) for rs2280883 and rs3761549 between the two groups. And no significant difference was detected in distribution of genotypes AA, AC and CC (P=0.762, OR=0.958) and frequencies of A and C alleles (P=0.715, OR=0.950) for rs3761548 was detected between the two groups. Based on r-AFS classification, the patients were divided into two groups (respectively with I-II stage and III-IV stage endometriosis). Again, no significant difference was detected in distribution of genotypes CC, CT and TT (P=0.454, OR=1.198, P=0.526, OR=0.909; P=0.220, OR=0.750, P=0.548, OR=1.094) and frequencies of C and T alleles (P=0.473, OR=1.215, P=0.532, OR=0.912; P=0.204, OR=0.737, P=0.558, OR=1.089) for rs22080883 and rs3761549 loci between the two patient groups. No association was found between distribution of genotypes AA, AC and CC (P=0.431, OR=1.211; P=0.508, OR=0.905) and frequencies of A and C alleles (P=0.417, OR=1.226; P=0.516, OR=0.908) for rs3761548 locus between the two patient groups. Our study has failed to found any association between FOXP3 gene polymorphisms rs2280883, rs3761548 and rs3761549 with endometriosis in Chinese Han patients.

FOXP3 genetic variant and risk of acute coronary syndrome in Chinese Han population

Coronary artery disease is the most common type of heart disease and a leading cause of morbidity and mortality all over the world. Acute coronary syndrome (ACS) is the most serious form of coronary artery disease. Recently, many studies indicated that genetic susceptibility may play a vital role in the pathogenesis of coronary heart disease including ACS. Forkhead/winged helix transcription factor (FOXP3) gene polymorphisms have been previously found to be associated with inflammatory diseases. To determine whether FOXP3 polymorphisms are associated with ACS, we examined the single nucleotide polymorphism rs3761548 of FOXP3 gene by polymerase chain reaction-polyacrylamide gel electrophoresis in 226 ACS patients and 259 unrelated healthy subjects. Our results showed that single nucleotide polymorphism rs3761548 had association with ACS in Chinese Han population. These data indicate that, for the first time, FOXP3 gene polymorphism may appear to play an important role in the susceptibility of ACS in Chinese Han population.

Association of FOXP3 Gene Polymorphism with Chronic Hepatitis B in Chinese Population

Abstract Objective The forkhead transcription factor FOXP3 is a key molecular which can mediate regulatory T cells immune-related inhibitory functions. Increased levels of FOXP3-positive Tregs in peripheral blood have been proved to be associated with a less favorable prognosis in various inflammatory diseases. It is of great interest to investigate the correlation between single nucleotide polymorphism (SNP) of FOXP3 gene and the susceptibility of chronic hepatitis B (CHB). Methods Two SNPs rs2280883 and rs3761549 of FOXP3 gene in 285 patients with CHB and 295 matched controls were analyzed by Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF). Results At rs2280883, there were no significant differences in the distribution of C and T alleles between CHB donors and healthy donors, but at rs3761549, C allele was associated with CHB (P = 0.001). Compared with healthy controls, patients with CHB had high frequencies of TT genotype (73.7%) at rs2280883 or CC genotype (73.6%) at rs3761549 of FOXP3 gene. Patients who carried rs2280883 CC genotype [OR 1.744 (95% CI 1.068 - 2.848), P = 0.011] or rs3761549 CC genotype [OR 1.633 (95% CI 1.146 - 2.327), P = 0.0001] had higher risk of suffering from CHB. Stratified analysis showed that rs3761549 CC genotype was significantly associated with high incidence of HBeAg (P = 0.019). Conclusions These results suggested that FOXP3 gene polymorphism at rs2280883 and rs3761549 might be associated with the increased susceptibility to CHB.

Study on association of functional polymorphisms in Foxp3 gene with the susceptibility to unexplained recurrent spontaneous abortion

To investigate the association between the functional polymorphisms of Foxp3 gene and unexplained recurrent spontaneous abortion (URSA). PCR-restriction fragment length polymorphism (rs3761548, rs2294021) and PCR with sequence-specific primers (rs2232365, rs5902434) were used to detect four polymorphisms of Foxp3 in 146 URSA cases and 112 normal controls. (1) The frequencies of rs3761548A/C were 10.3%, 22.3% in genotype C/C, 38.4%, 40.2% in genotype A/C and 51.4%, 37.5% in genotype A/A between URSA patients and normal controls; the frequencies of rs2232365A/G were 5.5%, 15.2% in genotype A/A, 47.9%, 50.0% in genotype A/G, 46.6%, 34.8% in genotype G/G between URSA patients and normal controls; they all reached statistical difference (P < 0.05). The carriers of rs3761548A allele and rs2232365G allele increased the risk of URSA (OR = 1.73, 1.61;all P < 0.05). (2) There was no difference in the genotypic distribution of rs5902434del/ATT polymorphism between cases and controls (P = 0.10), but the frequency of del allele in URSA was statistically increased than that of controls (71.2%, 62.5%;OR = 1.49, P = 0.04). (3) There was no different distribution in 3 genotypes (C/C, T/C, T/T) and 2 alleles (T and C) of rs2294021T/C between URSA patients and normal controls (P = 0.18 and 0.08). (4) Estimated haplotype frequency distribution of rs5902434del/ATT, rs3761548A/C and rs22323565A/G showed haplotype del-A-G conferring the susceptibility to URSA (OR = 2.51, P < 0.01) but haplotype del-C-G and ATT-A-A could provide protection on URSA (OR = 0.18, 0.22; all P < 0.01). Functional polymorphisms of Foxp3 gene could probably confer the susceptibility to URSA, by altering Foxp3 function and (or) its expression.

FOXP3 gene polymorphisms in preeclampsia

To determine whether polymorphisms in the FOXP3 gene are associated with preeclampsia. Case-control study in which 120 women with preeclampsia were compared with 120 healthy normotensive controls. Genetic variants (single nucleotide polymorphisms and microsatellites) in the FOXP3 gene were analyzed. Polymorphisms were chosen based on studies of the FOXP3 gene in other autoimmune disorders. Correction of P values for multiple comparisons was performed by using the Benjamini-Hochberg procedure. There were no differences in the genotypes or allele frequencies in the single nucleotide polymorphisms between cases and controls. The FOXP3 GT microsatellite allele at 266 bp was less common in cases than controls (1.0% vs 5.2%, P = .0264). However, this did not remain significant after correction for multiple comparisons. Preeclampsia is not associated with FOXP3 gene polymorphisms that have been associated with other autoimmune disorders.

Association between Functional Polymorphisms of Foxp3 Gene and the Occurrence of Unexplained Recurrent Spontaneous Abortion in a Chinese Han Population

Unexplained recurrent spontaneous abortion (URSA) is an alloimmune disease associated with the failure of fetal-maternal immunologic tolerance in which the regulatory T lymphocytes (Treg) play a pivotal role. It is well known that Forkhead box P3 (Foxp3) is a crucial regulatory factor for the development and function of Treg cells. It has also been established that deficiency of the Foxp3 gene suppresses the regulatory function of Treg cells. To determine if functional polymorphisms at the Foxp3 loci are associated with URSA in humans, we genotyped four common polymorphisms of Foxp3 gene in 146 unrelated URSA patients and 112 healthy women. The results showed that rs3761548A/C and rs2232365A/G polymorphisms were significantly associated with URSA. Additionally, we found that the allelic distribution of rs5902434 del/ATT in URSA group was slightly different from that in the control group. We conclude that functional polymorphisms of the Foxp3 gene may confer an important susceptibility to URSA in the Chinese Han population, probably by altering Foxp3 function and/or its expression.

Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases.

The severity of Hashimoto's disease (HD) and intractability (or inducibility to remission) of Graves' disease (GD) varies among patients. Forkhead box P3 (FoxP3) is a crucial regulatory factor for the development and function of regulatory T (T(reg) ) cells, and deficiency of the FoxP3 gene (FOXP3) suppresses the regulatory function of T(reg) cells. To clarify the association of the functional polymorphisms of the FOXP3 with the prognosis of GD and HD, we genotyped -3499A/G, -3279C/A and -2383C/T polymorphisms in FOXP3 gene obtained from 38 patients with severe HD, 40 patients with mild HD, 65 patients with intractable GD, in whom remission was difficult to induce, 44 patients with GD in remission and 71 healthy volunteers. The -3279CA genotype was more frequent in patients with GD in remission than in patients with intractable GD, and the -3279AA genotype, which correlates to defective transcription of FOXP3, was absent in patients with GD in remission. The -2383CC genotype was more frequent in patients with severe HD than in those with mild HD. In conclusion, the -3279A/C polymorphism is related to the development and intractability of GD and the -2383CC genotype to the severity of HD.

Association of transcription factor FOXP3 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population

To investigate the association of single nucleotide polymorphisms(SNP) of FOXP3 gene with susceptibility to systematic lupus erythematosus (SLE) in Chinese Zhuang population. Author analyzed the -2383 C/T and -3281 C/A two SNPs of the FOXP3 gene promoter in 120 patients with SLE and 160 age and sex matched controls in a Chinese Zhuang population, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing. The distribution of the FOXP3 gene -3281 C/A polymorphism was not different between the two groups. However, the FOXP3 gene -2383 C/T polymorphism was significantly different (P<0.05) between the two groups. The relative risk of suffering from SLE of -2383T allele carriers was 1.715 times of the -2383C allele carriers (OR=1.715, 95%CI: 1.165-2.525). Consistent with the results of the genotyping analyses, the FOXP3 -2383T/-3281A haplotype frequency in patients with SLE was significantly higher than that in controls (P<0.05). The -2383T/-3281A allele was associated with a significantly increased risk of SLE (OR=2.196, 95%CI: 1.165-4.142). The FOXP3 gene -2383C/T polymorphism is associated with SLE, and the -2383T allele is risk factor for SLE in the population studied.

M1183 Microsatellite Polymorphisms in FOXP3 Gene in Patients with Ulcerative Colitis

M1183 Microsatellite Polymorphisms in FOXP3 Gene in Patients with Ulcerative Colitis