[Takayasu arteritis associated with ulcerative colitis].
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Adolescent↗
Biomedical subjects
Miguel A López-Nevot
Publications and source records attributed to Miguel A López-Nevot.
Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus.
The aim of this study was to test whether the functional variant rs2076530 of the BTNL2 gene confers susceptibility to the autoimmune diseases type 1 diabetes (T1D), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE). Our study populations consisted of 326 patients with T1D and 351 healthy subjects, 808 patients with RA and 1137 healthy controls, and 372 patients with SLE and 280 healthy controls. Genotyping of the BTNL2 gene rs2076530 polymorphism was performed by real-time polymerase chain reaction technology, using the TaqMan 5'-allele discrimination assay. We observed statistically significant differences in the distribution of BTNL2rs2076530 alleles between patients with T1D, RA, and SLE and healthy controls (p=0.0035, 0.000003, and 0.00002, respectively), but in two divergent ways: the G allele was associated with T1D and RA, and the A allele was associated with SLE. However, the polymorphism exhibited strong linkage disequilibrium with HLA DQB1-DRB1 haplotypes previously identified as predisposing to the diseases. When the BTNL2 polymorphism was tested conditional on HLA DQB1-DRB1haplotypes, the BTNL2 effect was no longer significant in all three study populations. The BTNL2 rs2076530 polymorphism is associated with T1D, RA, and SLE because of its strong linkage disequalibrium with predisposing HLA DQB1-DRB1 haplotypes in Caucasian populations.
Arthritis, Rheumatoid↗
Functional polymorphism of the NFKB1 gene promoter is not relevant in predisposition to celiac disease.
OBJECTIVE: The nuclear factor (NF)-kappaB is one of the pivotal regulators of autoimmunity and inflammation, which has been shown to be activated in the inflamed mucosa of patients with celiac disease (CD). Recently, in the NFKB1 gene promoter region, a common insertion/deletion (-94ins/delATTG) polymorphism located between two putative key promoter regulatory elements was described. The aim of this study was to investigate the contribution of the -94ins/delATTG NFKB1 gene promoter functional variant to CD genetic predisposition. MATERIAL AND METHODS: A case-control cohort comprising 478 patients with CD and 711 healthy controls as well as a panel of 196 celiac families was genotyped for the 94ins/delATTG NFKB1 polymorphism, using a polymerase chain reaction (PCR) method combined with fluorescence technology. RESULTS: We found no statistically significant differences between CD patients and controls when the -94ins/delATTG genotype and allele distributions were compared. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of -94ins/delATTG alleles to the affected offspring. CONCLUSIONS: From these results, it could be suggested that the -94ins/delATTG NFKB1 polymorphism does not play a major role in CD susceptibility.
Alleles↗
SLC22A4, RUNX1, and SUMO4 polymorphisms are not associated with rheumatoid arthritis: a case-control study in a Spanish population.
OBJECTIVE: To replicate the association reported in Japanese individuals of functional SLC22A4 and RUNX1 polymorphisms with rheumatoid arthritis (RA), and to test the possible role in this trait of a functional variant of the SUMO4 gene that was shown to be associated with another related autoimmune disease, type 1 diabetes (T1D). METHODS: Our study population consisted of 886 patients with RA and 987 healthy controls. All subjects were of Spanish Caucasian origin. We conducted a case-control association study with 6 single-nucleotide polymorphisms (SNP) spanning the SLC22A4 gene. SNP mapping in the RUNX1 gene associated with RA in a Japanese population and a SUMO4 polymorphism associated with T1D were also studied. RESULTS: No statistically significant differences between patients with RA and healthy controls were observed when comparing the distribution of the genotypes or alleles of any of the SLC22A4 polymorphisms tested. Similarly, no evidence of association between RA and the SLC22A4 haplotype previously reported to be associated in a Japanese population was found. With regard to the RUNX1 and SUMO4 SNP, we did not observe statistically significant differences in the distribution of genotypes or alleles between patients with RA and healthy controls. CONCLUSION: These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analyzed do not confer a relevant role in susceptibility to RA in the Spanish population.
Arthritis, Rheumatoid↗
Analysis of a GT microsatellite in the promoter of the foxp3/scurfin gene in autoimmune diseases.
The aim of this study was to assess the possible association of the functional (GT)(n) microsatellite polymorphism in the FOXP3 gene with predisposition to several autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), ulcerative colitis (UC), Crohn's disease, and celiac disease. We analyzed a case-control cohort composed of 231 SLE patients, 293 RA patients, 528 inflammatory bowel disease (354 Crohn's disease patients and 260 UC patients) patients, 103 celiac disease patients, and 274 healthy controls ethnically matched. Genotyping of (GT)(n) microsatellite was performed by polymerase chain reaction (PCR)-based method combined with fluorescent technology. We found no evidence for association of this polymorphism between controls and these autoimmune disease patients. Additionally, no differences in the genotype and allele distribution were found when patients were stratified according to clinical manifestation. The (GT)(n) microsatellite of the FOXP3 gene may not play a relevant role in the susceptibility to SLE, RA, inflammatory bowel disease, and celiac disease in our population.
Arthritis, Rheumatoid↗
Interleukin 12 (IL12B) and interleukin 12 receptor (IL12RB1) gene polymorphisms in rheumatoid arthritis.
The aim of this study was to assess the possible association between the IL12B and the IL12RB1 gene polymorphisms and the systemic autoimmune disease rheumatoid arthritis (RA). Our study population consisted of 545 patients with RA and 393 healthy subjects. All the individuals were of white Spanish origin. Genotyping of the IL12B (IL12Bpro and IL12B 3' untranslated region) and IL12RB1 (641A-->G, 1094T-->C, and 1132G-->C) polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism and polymerase chain reaction-fluorescent methods. No statistically significant differences in the distribution of the IL12B and the IL12RB1 genotypes and alleles between patients with RA and control subjects were observed. In addition, no association was found between the above-mentioned polymorphisms with any of the demographic and clinical parameters tested in patients with RA. These results suggest that IL12B and IL12RB1 genes may not play a relevant role in the susceptibility or severity of RA in the Spanish population.
3' Untranslated Regions↗
Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus.
OBJECTIVE: To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). METHODS: Our study population consisted of 826 RA patients, 338 SLE patients, and 1,036 healthy subjects. All subjects were of Spanish Caucasian origin. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by real-time polymerase chain reaction technology, using the TaqMan 5'-allele discrimination assay. RESULTS: The overall distribution of genotypes in the RA patients was significantly different from that in the controls (P = 0.005, by chi-square test with 2 x 3 contingency tables). We observed a statistically significant difference in the distribution of the PTPN22 1858T allele between healthy subjects (7.4%), and RA patients (10.4%) (P = 0.001, odds ratio [OR] 1.45 [95% confidence interval (95% CI) 1.15-1.83]). In addition, PTPN22 1858 C/T and T/T genotypes were present at a significantly higher frequency in SLE patients than in controls (P = 0.02, OR 1.55 [95% CI 1.05-2.29]). Differences were also observed when allele frequencies were compared, with the PTPN22 1858T allele being present at a higher frequency among SLE patients (P = 0.03, OR 1.45 [95% CI 1.01-2.09]). CONCLUSION: These results suggest that the PTPN22 1858T allele may confer differential susceptibility to RA and SLE in the Spanish population.
Adult↗
A functional polymorphism of the NFKB1 promoter is not associated with ulcerative colitis in a Spanish population.
BACKGROUND: This study investigated the influence of the NFKB1-94ins/delATTG in the susceptibility/phenotype to ulcerative colitis. METHODS: We analyzed the distribution of -94ins/delATTG NFKB1 in 258 patients and 264 healthy controls from southern Spain by a polymerase chain reaction-fluorescent method. RESULTS: The genotype and allele frequencies of -94ins/delATTG did not significantly differ between patients and controls. In fact, the frequency of the -94delATTG allele was almost identical in both groups (34.8% and 35.4%, respectively), and the del/del genotype was underrepresented in UC patients (11.2% versus 14%). In addition, no association of this polymorphism was found with any of the clinical parameters analyzed. CONCLUSION: These results suggest that the NFKB1 -94ins/delATTG gene variation, previously associated with UC susceptibility in North Americans, does not influence either susceptibility or phenotype of UC in the Spanish population.
Adult↗
Absence of COCH mutations in patients with Meniere disease.
Missense mutations in the coagulation factor C homology (COCH) gene (14q12-q13) cause the autosomal dominant sensorineural hearing loss and vestibular disorder DFNA9 (OMIM 603196), and a high prevalence of symptoms of Meniere disease (MD) has been described in families with a mutation in the COCH gene. In this study, we search for mutations in the COCH gene in peripheral blood from patients with definite MD. DNA was extracted from peripheral blood cells of 30 individuals with MD and 30 controls. Exons 4 and 5 of the COCH gene were amplified by PCR reaction, using primer pairs flanking both exons. Sequences were analysed by a DNA sequencing system and compared with the published COCH cDNA sequence. No differences were found in the nucleotide sequences of exons 4 and 5 in the COCH gene in patients with definite sporadic MD when they were compared with the control group. Patients with definite MD have a low prevalence of mutations in exons 4 and 5 of the COCH gene.
Chromosomes, Human, Pair 14↗
Expression of A, B, C and DR antigens in definite Meniere's disease in a Spanish population.
To analyze the associations of HLA class I and II antigens in patients with Meniere's disease (MD) in southern Spain, 54 patients with definite MD according to the diagnostic scale of the AAO-HNS were compared with 534 normal controls in a prospective multicenter study. We performed a serological typing for A, B, C and DR specificities of the major histocompatibility complex and allele-specific amplification for HLA-DRB1. No differences were found in the distribution of class I antigens or DR antigens in patients with definite MD when they were compared with the control group. Our results suggest that HLA antigens do not determine an increased susceptibility to develop MD.
Adult↗