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Biomedical subjects

M A González-Gay

Publications and source records attributed to M A González-Gay.

At least 19 recordsLinked to original sources
PubMed2006

Evidence of association of macrophage migration inhibitory factor gene polymorphisms with systemic lupus erythematosus.

The aim of this study was to evaluate the potential association of functional polymorphisms of macrophage migration inhibitory factor with systemic lupus erythematosus. Our study includes 711 systemic lupus erythematosus (SLE) patients and 755 healthy controls. We genotyped the migration inhibitory factor (MIF) -173G/C using a polymerase chain reaction (PCR) system with predeveloped TaqMan allelic discrimination assay and the MIF -794 CATT(n) microsatellite polymorphism using a PCR-fluorescent method. A statistically significant difference in the distribution of the MIF -173(*)C allele between SLE patients and controls (P=0.004, OR=1.34, 95% CI=1.05-1.27) was observed. In addition, the frequency of the MIF -173(*)C/C genotype was higher in SLE patient (P=0.002, OR=2.58, 95% CI=1.32-5.10). No differences in the distribution of CATT(n) were found. However, the haplotypes analyses showed that only the CATT(7)-MIF -173(*)C haplotype was associated with a higher susceptibility to SLE (P=0.001, OR 1.84, 95% CI 1.35-2.79). No association with clinical features was detected in any case. These results suggest that both, MIF -173(*)C allele and CATT(7)-MIF -173(*)C haplotype, confer susceptibility to SLE in our population.

Adult↗
PubMed2006

Asporin repeat polymorphism in rheumatoid arthritis.

BACKGROUND: Asporin belongs to a family of proteins associated with the cartilage matrix. OBJECTIVE: To investigate the role of the functional polymorphism consisting of an aspartic acid (D) repeat polymorphism located in the ASPN gene in the susceptibility to and clinical outcome of rheumatoid arthritis. METHODS: A total of 803 Spanish Caucasian patients with rheumatoid arthritis and 904 controls of the same ethnic origin and matched for age and sex were included in the study. The asporin D repeat polymorphism was genotyped using polymerase chain reaction with a fluorescent primer. RESULTS: No significant differences were detected in the distribution of the 10 alleles found in our population on comparing patients with rheumatoid arthritis with control groups. Nevertheless, individuals bearing D14 produced rheumatoid factor more often than the rest (85.7% v 72.1%, p = 0.006, odds ratio (OR) = 2.35, 95% confidence interval 1.21 to 4.50), and the mean (SD) onset age was higher in the group of individuals bearing D13 (50.09 (13.94)) compared with the rest (47.21 (14.31)), although the difference did not reach significance (p = 0.06). CONCLUSION: The results do not support a major role for asporin D repeat polymorphism in the susceptibility to rheumatoid arthritis. Nevertheless, they support the influence of this gene on the outcome of the disease.

Adult↗
PubMed2006

No primary association of MICA polymorphism with systemic lupus erythematosus.

OBJECTIVE: To replicate the described association between MHC class I chain-related A (MICA) gene polymorphism and susceptibility to systemic lupus erythematosus (SLE). METHODS: MICA transmembrane microsatellite polymorphism was genotyped using a polymerase chain reaction (PCR)-based method. Genotyping of HLA-B* and DRB1* was performed using PCR and detection with a reverse sequence-specific oligonucleotide (SSO) probe system. Combined data for these three loci (HLA-B*, DRB1* and MICA) were obtained from a total of 333 patients and 361 healthy controls. RESULTS: Significant association with B*08 [P < 10(-7), odds ratio (OR) 3.17, 95% confidence interval (CI) 2.02-5.00], DRB1*0301 (P < 10(-7), OR 2.07, 95% CI 1.59-2.68) and MICA5.1 (P = 0.01, OR 1.23, 95% CI 1.04-1.46) was observed. The combinations DRB1*0301-MICA5.1-B8 and HLA-DRB1*0301-B*08-positive and MICA5-1-negative were more frequent among SLE patients (11.4 vs 3.3% in healthy controls, P = 3.9 x 10(-5), OR 3.76, 95% CI 1.85-7.73, and 6.9 vs 1.7%, P = 0.0007, OR 4.32, 95% CI 1.68-13.10, respectively). Additionally, individuals who were HLA-DRB1*0301-B*08-negative and MICA5-1-positive were less frequent among patients (22.2 vs 31.3% in healthy controls, P = 0.007, OR 0.63, 95% CI 0.44-0.89) and the magnitude of the OR was similar to that obtained in individuals negative for all the three factors (OR 0.69, 95% CI 050-0.94). Further analysis performed to detect independent association strongly suggested that the association between MICA5.1 and SLE is secondary to the linkage disequilibrium of this allele with B*08. CONCLUSIONS: Our results do not support an independent association of MICA gene polymorphism with susceptibility to SLE.

Adolescent↗
PubMed2006

Study of a functional polymorphism in the p53 gene in systemic lupus erythematosus: lack of replication in a Spanish population.

The aim of this study was to assess the possible association between the p53 suppressor gene codon 72 polymorphism and systemic lupus erythematosus (SLE). Our study population consisted of 513 SLE patients and 567 healthy controls. All the individuals were of Spanish Caucasian origin. Genotyping of the p53 codon 72 polymorphism was performed by allele-specific PCR. No statistically significant differences were observed between SLE patients and healthy controls when p53 codon 72 genotype and allele frequencies were compared. In addition, no evidence for association with clinical subfeatures of SLE was found. In conclusion, the p53 codon 72 polymorphism associated with SLE in a Korean population does not appear to play a major role in the susceptibility or severity of SLE in the Spanish population.

Adult↗
PubMed2005

Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus.

BACKGROUND: Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases. OBJECTIVE: To test the possible role of these variants in susceptibility to or severity of systemic lupus erythematosus (SLE), on the basis that common genetic bases are shared by autoimmune disorders. METHODS: 597 SLE patients and 987 healthy controls of white Spanish origin were studied. Two additional cohorts of 228 SLE patients from Sweden and 122 SLE patients from Colombia were included. A case-control association study was carried out with six single nucleotide polymorphisms (SNP) spanning the SLC22A4 gene, one SNP in RUNX1 gene, and one additional SNP in SUM04 gene. RESULTS: No significant differences were observed between SLE patients and healthy controls when comparing the distribution of the genotypes or alleles of any of the SLC22A4, RUNX1, or SUMO4 polymorphisms tested. Significant differences were found in the distribution of the SUMO4 genotypes and alleles among SLE patients with and without nephritis, but after multiple testing correction, the significance of the association was lost. The association of SUMO4 with nephritis could not be verified in two independent SLE cohorts from Sweden and Colombia. CONCLUSIONS: These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.

Adult↗
PubMed2005

Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus.

OBJECTIVE: The aim of this study was to assess the possible association between the interleukin-12B (IL12B) and interleukin-12 receptor beta 1 (IL12RB1) gene polymorphisms with systemic lupus erythematosus (SLE). In addition, we have undertaken a systematic search for genetic variants of interleukin 23 (IL23A). METHODS: The study was conducted on 559 SLE patients and 603 ethnically matched healthy controls. Genotyping of the IL12B [IL12Bpro and IL12B 3' untranslated region (UTR)] and IL12RB1 (641A-->G, 1094T-->C and 1132G-->C) polymorphisms was performed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR-fluorescent methods, whereas IL23A genetic variants were realized with direct sequencing. RESULTS: No statistically significant differences in the distribution of the IL12B and the IL12RB1 genotypes and alleles were observed when comparing SLE patients and control subjects. Additionally, no differences in the genotype and allele distribution were found when SLE patients were stratified according to the presence or absence of lupus nephritis. Despite an extensive analysis in 30 individuals, variations located in the exons and in the 5' and 3' UTR regions of IL23A gene were not found in any case. CONCLUSIONS: These results suggest that polymorphisms located in IL12B, IL12RB1 and IL23A genes may not play a relevant role in the susceptibility or severity of SLE in the Spanish population.

Adult↗
PubMed2005

Interleukin-18-promoter polymorphisms are not relevant in rheumatoid arthritis.

Interleukin-18 (IL-18), a member of the IL-1 family, is known to play a relevant role in rheumatoid arthritis (RA) physiopathology mainly by promoting the inflammatory response. The aim of this work was to investigate the possible implication of two single-nucleotide polymorphisms (SNPs) [-607 A/C (rs1946518) and -137 G/C (rs187238)] within the IL-18-promoter region in RA predisposition and clinical course. A total of 362 unrelated RA patients and 339 healthy controls were genotyped using a real-time polymerase chain reaction (PCR) method for the -607 A/C SNP and a sequence-specific PCR method (PCR-SSP) for the -137 G/C polymorphism. No statistically significant differences were observed for both -607 and -137 IL-18-promoter polymorphisms between RA patients and controls, considering either allelic or genotypic frequencies. In addition, no association was found with the haplotypes inferred by the two polymorphisms and RA susceptibility. This was also the case when RA patients were stratified according to sex, age at the onset of the disease, rheumatoid factor status, and extraarticular manifestations. Our data suggest that -607 A/C (rs1946518) and -137 G/C (rs187238) polymorphisms within the IL-18-promoter region do not play a major role in RA predisposition.

Alleles↗
PubMed2001

Epidemiology of the vasculitides.

In summary, systemic vasculitides constitute a heterogeneous group of overlapping diseases that are somewhat more common than previously considered. Although the causes of vasculitis are largely unknown, epidemiologic studies have implicated geographic, genetic, and environmental factors. Ethnicity, various genes such as those of the MHC, gender, and environmental factors seem to account for the different incidence rates of these syndromes. GCA is the most common vasculitis in elderly people from Western countries. Small-sized cutaneous vasculitides, particularly HSP in children and HV in adults, are also common diseases. Increased physician awareness and the routine use of ANCA tests may contribute to an increase in the recognition of conditions such as WG and MPA.

Humans↗
PubMed2001

Rheumatic manifestations of infective endocarditis in non-addicts. A 12-year study.

Infective endocarditis (IE) is due to a microbial infection of the heart valves or of the endocardium in close proximity to either congenital or acquired cardiac defects. This infection is associated with a high risk of complications. Rheumatic manifestations are known to be frequent complications of IE. Controversy, however, frequently exists about the actual incidence of these complications. This may be due to the small number of series describing the frequency and type of rheumatic manifestations, the absence of uniform criteria used for the diagnosis of IE, and the fact that some studies on rheumatic manifestations in IE have been described from tertiary referral centers, which implicates associated problems of referral bias and uncertainty of denominator population. To investigate further the incidence, clinical spectrum, and outcome of patients with IE and rheumatic manifestations, we examined the features of patients diagnosed with clinically definite IE according to the Duke classification criteria at the single reference hospital for a defined population in northwestern Spain during a 12-year period. Between 1987 and 1998, 100 consecutive patients had 110 episodes of clinically definite IE. Rheumatic manifestations were observed in 46 of the 110 episodes (41.8%). As in other western countries, they occurred more commonly in men aged in their 50s. The most frequent valve involved was the aortic (43.5%) followed by the mitral valve (30.4%). Myalgia was a frequent symptom. Peripheral arthritis, generally as monoarthritis, was clinically evident in 15 cases (13.6%), and sacroiliitis in 1 patient. Low back pain was described in 14 cases (12.7%). Septic discitis was observed in 2 cases, and biopsy-proved cutaneous leukocytoclastic vasculitis was found in 4 cases. Other conditions such as trochanteric bursitis and polymyalgia were observed in 2 and 1 case, respectively. Apart from a significantly higher frequency of hematuria and a trend to lower serum complement levels in patients with rheumatic complications, no differences in clinical features, laboratory tests, or microbiologic blood culture results were found between cases with IE with or without rheumatic manifestations. Also, although patients with rheumatic manifestations had more embolic complications, the inhospital mortality rate in patients with rheumatic manifestations was not significantly different from that of the rest of the patients. The present study supports the claim that rheumatic complications are frequent in patients with clinically definite IE from southern Europe. The presence of musculoskeletal or vasculitic manifestations may be of some help, as warning signs, for the recognition of patients with severe disease who require rapid diagnosis and therapy.

Adolescent↗
PubMed2001

Epidemiology of biopsy proven giant cell arteritis in northwestern Spain: trend over an 18 year period.

OBJECTIVE: In Europe giant cell arteritis (GCA) is more common in Scandinavian countries than in southern regions. Epidemiological studies on GCA in other more distant countries have indicated a progressive increase in incidence. A regular cyclical pattern in incidence of GCA over 20 years has been reported in Olmsted County (Minnesota, USA). In contrast, no cyclical fluctuation has been recently reported in Sweden. To investigate further the epidemiology of GCA in southern Europe the trend in incidence and fluctuations of this vasculitis over 18 years in the Lugo region of northwestern Spain were examined. METHODS: A retrospective study of biopsy proven GCA diagnosed between 1 January 1981 and 31 December 1998 at a single hospital for a well defined population of almost 250 000 people. Annual incidence was calculated for the whole group of patients and for men and women separately. Monthly variations, annual peaks of incidence, and trend in the incidence of biopsy proven GCA with and without polymyalgia rheumatica (PMR) were also examined. RESULTS: One hundred and sixty one Lugo residents were diagnosed with biopsy proven GCA between 1981 and 1998. The average annual incidence for the population aged 50 and older was 10.24/100 000 (men 11.00/100 000, women 9.57/100 000). A progressive increase in the incidence in both men and women was seen. In men there was an annual increase of 8% (95% CI 4% to 13%; p<0.0001). In women the annual increase was 11% (95% CI 5% to 17%; p<0.0001). The overall annual increase for men and women was 10% (95% CI 6% to 14%; p<0.0001). No seasonal pattern or peaks in the incidence were seen. During the period 1981-94 GCA was more common in men than in women. In contrast, during the last years of study the increase in incidence was higher in women. In women the annual ratio of incidence of GCA with PMR/incidence of GCA without PMR was generally higher than 1. However, in men the annual ratio was initially 1 but decreased gradually, indicating a progressive decrease in the proportion of men with biopsy proven GCA associated with PMR. CONCLUSION: In northwestern Spain there has been a progressive increase in GCA incidence. As seen in other countries where GCA is more common, during the past few years the increase in incidence has been mainly due to a higher number of new cases in women.

Age Factors↗
PubMed2001

Predictive factors for renal sequelae in adults with Henoch-Schönlein purpura.

OBJECTIVE: To examine the outcome and risk factors for renal sequelae in an unselected population of adults with Henoch-Schonlein Purpura (HSP). METHODS: Retrospective study of adult patients (> 20 years) with biopsy proved cutaneous vasculitis diagnosed as having HSP seen at a single center between 1984 and 1998. Patients were classified as having HSP according to proposed criteria. Only those patients with a followup of at least 1 year were included in this study of renal sequelae. RESULTS: Twenty-eight patients with a mean followup of 5.5 years fulfilled the inclusion criteria. When the study was concluded, 10 patients (36%) had renal sequelae and 2 (7%) had renal insufficiency. Men outnumbered women. However, neither a previous history of drugs, gender, nor age at disease onset was associated with a higher risk of permanent renal involvement. Patients with hematuria at disease onset or renal involvement during the course of the disease more commonly developed renal sequelae (p < 0.001). The presence of anemia (p = 0.05) at the time of diagnosis and the onset in summer (p < 0.05) were also more common in those with permanent renal involvement (renal sequelae). Patients with relapses had also a higher trend to develop renal sequelae (p = 0.07). All patients who fulfilled more than 2 of these 5 risk factors developed permanent renal involvement. With this model we were able to predict renal sequelae in 8 of the 10 patients who had this complication. The Goodman-Kruskal gamma test value was 0.92 (95% CI 0.78-1.00). CONCLUSION: In unselected adults with HSP, permanent renal involvement (renal sequelae) is not uncommon. Hematuria at disease onset and persistence of renal manifestations during the course of the disease are significant indicators of possible development of renal sequelae. These manifestations plus other features such as onset in summer, anemia at disease onset, or relapses of the disease may predict the development of renal sequelae in most patients.

Adult↗