PubMed Health⌕ Search

Biomedical subjects

J M Anaya

Publications and source records attributed to J M Anaya.

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

Analysis of IL1B, TAP1, TAP2 and IKBL polymorphisms on susceptibility to tuberculosis.

Genetic determinants of human susceptibility to tuberculosis (TB) have not been completely elucidated. Interleukin-1 beta (IL-1beta) and the inhibitor of kB-like (IkBL) are important molecules that participate in the inflammatory response required for the immunological control of a broad spectrum of infectious agents. The transporter associated with antigen processing (TAP) is involved in the antigen processing via major histocompatibility complex class I molecules and in turn might regulate the T-cell response against Mycobacterium tuberculosis. To better characterize the host genetic factors determining the susceptibility to TB, we evaluated the influence of functional polymorphisms in IL1B, TAP and IKBL genes on the risk of developing pulmonary TB in a Northwestern Colombian population, an endemic area of M. tuberculosis infection. A total of 122 TB patients and 166 healthy controls (N = 166) negative for human immunodeficiency virus infection were examined for IL1B-511 and +3,953, TAP1 and TAP2 and IKBL+738 polymorphisms. Univariate analysis disclosed significant differences between patients and controls for IL1B+3,953 polymorphism. After unconditional logistic regression analysis, a strong protection conferred by IL1B+3,953 T-allele-carrying genotypes was observed. A trend between TAP2*0201 allele and disease was observed. Association between IL1B-511, TAP1 or IKBL polymorphisms and TB disease was not found. These results indicate that a functional polymorphism in the IL1B gene influences the susceptibility to TB and suggest a role for IL-1beta in the pathogenesis of mycobacterial infection.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
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↗
PubMed2002

Measurements of ultracold-neutron lifetimes in solid deuterium.

We present the first measurements of the survival time of ultracold neutrons (UCNs) in solid deuterium (SD2). This critical parameter provides a fundamental limitation to the effectiveness of superthermal UCN sources that utilize solid ortho-deuterium as the source material. These measurements are performed utilizing a SD2 source coupled to a spallation source of neutrons, providing a demonstration of UCN production in this geometry and permitting systematic studies of the influence of thermal up-scatter and contamination with para-deuterium on the UCN survival time.

Journal Article↗
PubMed2002

Rheumatoid arthritis association in Colombian population is restricted to HLA-DRB1*04 QRRAA alleles.

In most ethnic groups genetic susceptibility to rheumatoid arthritis (RA) is associated with certain HLA-DRB1 alleles encoding a similar sequence motif called the 'shared epitope' (SE) spanning amino acid positions 70 to 74 in the third diversity region of the outermost domain of the HLA-DRB1 molecule. We examined the association of the SE and RA in 83 Colombian women with established RA and 90 healthy controls. The group HLA-DRB1*04 was associated with RA with respect to controls (47% vs 18%, respectively. OR: 4.1, 95%CI: 2.1-8.2, P < 0.001). HLA-DRB1 alleles carrying the SE QRRAA, but not those carrying QKRAA or RRRAA, were associated with disease (OR: 3.7, 95%CI: 1.73-7.83, P = 0.0009). This association was stronger among HLA-DRB1*04 carriers (OR: 23, 95%CI: 1.3-414, P = 0.002). In our population, the SE QRRAA expressed in DRB1*04 alleles appears critical in identifying women with increased susceptibility to RA.

Adult↗
PubMed2002

Multiple sclerosis in the tropics: genetic association to STR's loci spanning the HLA and TNF.

Clear evidence has been presented correlating gene polymorphisms at 6p21.3-21.4 (containing HLA and TNF) and the predisposition to acquire multiple sclerosis (MS). In a previous study, we found that polymorphisms at HLA DQAI were associated with being or not being predisposed to MS in individuals inhabiting the tropics, where the prevalence of MS is significantly lower than in subtropical areas. Here, we tested the hypothesis that polymorphisms at D6S276, D6S265, D6S273 and D6S291 microsatellite loci are in strong linkage disequilibrium with a major genetic factor predisposing to MS. These microsatellites span the 6p21.3 region with intervals of 5 cM establishing particular landmarks for the HLA and TNF loci. Thirty-five MS patients and 35 controls, age, sex, social, ethnically and geographically matched healthy individuals, were studied. After testing the fit of gene frequencies to the normal distribution and performing the correlation for multiple comparisons, we found significant differences among the case and the control frequencies for the allele 202 belonging to the marker D6S276 (Pc=0.00455) and for the allele 114 belonging to the marker D6S265 (Pc=0.0084). For these two alleles at different loci, we found higher frequencies in the cases than in the controls. A nonsignificant p value was found in testing the existence of linkage disequilibrium among the studied loci in the cases and in the controls. In conclusion, the current study adds evidence to the established association among polymorphisms of genes located at 6p21.3-21.4 and MS. Furthermore, because of the distribution of the tested microsatellite loci, the more probable critical region could be correlated with the TNF neighborhood.

Adult↗
PubMed2001

Rheumatoid arthritis in African Colombians from Quibdo.

OBJECTIVES: Little data is available on the prevalence and incidence of rheumatoid arthritis (RA) or the genetic and environmental factors that influence RA risk and severity in non-Caucasian populations. The prevalence of RA in Caucasians and some Native American populations is 1% or more; in contrast, low prevalences of RA have been reported in some African populations. We determined the hospital incidence (HI) and period prevalence (PP) of RA in African Colombians in Quibdo, Colombia, by using data collected at the Hospital San Francisco de Asis, a primary-to-tertiary care center. Genetic and immunologic studies of factors that influence RA risk and severity, such as HLA genes, immunoglobulin-A (IgA) rheumatoid factor (RF), and antikeratin antibodies (AKA) were performed. African Colombians with RA also were compared with Mestizo RA patients from Medellín, Colombia. METHODS: To determine the HI, all the outpatient charts for 1995 were reviewed (n = 3,044). PP during 1996 (Jan-Dec) was assessed by stratified sampling of all African Colombians aged 18 or more having arthralgia. Participants completed a survey and a pretested standard questionnaire, had hands and feet X-rays, and provided a blood sample. Total and IgA RF were measured by turbidimetry and ELISA, respectively; AKA were assessed by indirect immunofluorescence on rat esophagus. HLA-DRB1 and DQB1 alleles were determined by polymerase chain reaction technique with primers of specific sequence and by reverse dot blot. RESULTS: The HI was 0.65 cases per 1,000 person years. There were 321 individuals with arthralgia (0.3%; 95% CI, 0.28-0.3), 18 of whom fulfilled the American College of Rheumatology criteria for RA (PP in the general population, 0.01%; 95% CI, 0.008-0.02). Lower erosion scores were seen in African Colombian patients compared to Mestizos (n = 56), although duration of disease was similar in each group. No association between any HLA allele and RA risk or RA severity or between autoantibodies and RA severity was observed in African Colombians. Comparisons showed no significant differences between African Colombians and Mestizo patients in the presence of RF (total and IgA), AKA, age at onset, extra-articular manifestations, formal education level, and history of malaria. CONCLUSIONS: These results suggest that RA in African Colombian patients from Quibdo is rare, may be less severe in terms of radiographic damage than in Colombian Mestizo patients, and lacks association to HLA-DRB1 and DQB1 alleles. Additionally, RF (total and IgA) and AKA are not markers of progression and activity of the disease in this population.

Africa↗
PubMed2001

Clinical features of multiple sclerosis in a genetically homogeneous tropical population.

Individuals affected with multiple sclerosis (MS) from a genetically homogeneous Caucasian population in Antioquia, a tropical region of Colombia, were evaluated in order to observe the clinical behavior of the disease. The frequency of clinical manifestations in 65 patients with definite MS from Antioquia was compared with those reported from temperate regions. The most common manifestations were optic neuritis and motor symptoms with absence of cerebellar symptoms. This presentation is significantly different from the frequency distribution at onset in series from temperate regions. These differences suggest that environmental factors could modify the clinical expression of MS in this population.

Asia↗
PubMed1999

Multiple sclerosis: association to HLA DQalpha in a tropical population.

Studies performed in subtropical populations have found significant association between the phenotype multiple sclerosis (MS) and the major histocompatibility complex (MHC). We present the results of a case-control study conducted on a tropical population (Antioquia, Colombia) in order to detect a possible association between MS and HLA DQalpha (HLA DQA1*) alleles. Forty chromosomes belonging to MS patients were compared to two sets of controls (40 and 910 chromosomes, respectively). The HLA DQA1*0101 and DQA1*0102 alleles were found in a significantly higher proportion among the cases than among the controls, whereas the HLA DQA1*0103 allele was found in a significantly lower proportion of the cases. These results suggest that the association of HLA DQA1*0101, DQA1*0102 and DQA1*0103 to the MS phenotype found in Caucasian subtropical populations remains in individuals with MS inhabiting the tropics. This finding could mean that the major genetic component associated to the MHC in subtropical populations is the same in the tropics.

Adult↗
PubMed1996

Lymphocyte apoptosis and apoptosis-associated gene expression in Sjögren's syndrome.

OBJECTIVE: To study the mechanism and regulation of apoptosis in peripheral blood T and B lymphocytes from patients with Sjögren's syndrome (SS). METHODS: The mode of in vitro lymphocyte death in the peripheral blood of patients with SS was determined by fluorescence microscopic analysis, terminal deoxynucleotidyl transferase assay, and DNA fragmentation analysis. Apoptotic cell death of T and B cells was determined at 48 hours of culture by fluorescence-activated cell sorter analysis of propidium iodidestained cells. Messenger RNA (mRNA) expression of bcl-2, bcl-x, bax, and c-myc in T and B cells was determined by enzyme-linked immunosorbent assay-polymerase chain reaction (ELISA-PCR). Expression of bcl-xL and bcl-xS was determined by Southern blot analysis of PCR products. Gene expression was calculated as the ratio of each gene message to the message of the GAPDH gene. Bcl-2 protein levels in SS T cells were determined by ELISA. RESULTS: SS T cells showed increased in vitro apoptosis compared with normal T cells (mean +/- SD 12.3 +/- 4.5% versus 7.3 +/- 2.0%; P < 0.01). Freshly isolated SS T cells showed increased expression of bcl-2 mRNA compared with normal controls (mean +/- SD 1.50 +/- 0.65 versus 0.88 +/- 0.23; P < 0.05). There was no significant difference in levels of bax or c-myc mRNA in T cells and B cells between SS patients and normal controls. When SS T lymphocytes were cultured in vitro for 72 hours, Bcl-2 protein levels decreased with time. CONCLUSION: SS T cells showed accelerated apoptosis in vitro. Freshly isolated SS T cells had increased expression of bcl-2. An increase in death-promoter signals and decrease in death-suppressor signals in vitro may have been responsible, in part, for the apoptosis in SS T lymphocytes.

Adult↗
PubMed1996

Abnormality of Oct-1 DNA binding in T cells from Sjögren's syndrome patients.

Primary Sjögren's syndrome (SS) is an autoimmune rheumatic disease characterized by T cell hypoactivity. To understand the diminished T cell response to activation signals, we measured nucleoprotein DNA-binding activities regulating gene expression during T cell activation using the electrophoretic mobility shift assay. Peripheral blood lymphocytes from 9/19 SS patients were found to be defective in their ability to bind an october sequence (Oct-1). This Oct-1-binding phenotype remained stable in culture for up to 3 days prior to activation. This abnormality was not seen in resting T cells nor T cells from patients with systemic lupus erythematosus, rheumatoid arthritis (RA), or SS accompanied by RA. The SS Oct-1 DNA-binding abnormality correlated significantly with an inability of cells to exit the Gzero/G1 cell cycle phase when stimulated in vitro. Importantly, nucleoprotein extracts showing decreased DNA-binding activity had normal amounts of Oct-1 proteins as determined by immunoprecipitation, implying a functional defect in the Oct-1 protein. Moreover, defective DNA binding was corrected by treatment with acid phosphatase.

Adult↗
PubMed1996

Clinicopathological factors relating malignant lymphoma with Sjögren's syndrome.

This study was undertaken to summarize the current status of the clinicopathologic factors related to non-Hodgkin's lymphoma (NHL) development in patients with Sjögren's syndrome (SS). Through a MEDLINE search, pertinent articles on SS, monoclonality, and NHL were found and reviewed. Malignant lymphoma description was based on the International Lymphoma Study Group classification. Patients with SS are known to have an increased risk for developing B-cell NHL (B-NHL). However, such a complication occurs in less than 10% of patients, being reported mainly in those with primary SS. Extranodal low-grade B-NHL are observed most frequently. Persistent enlargement of parotid glands, adenopathy, monoclonal gammopathy, and cross-reactive idiotypes are all signs suggesting possible lymphoma evolution. Although monoclonality does not mean malignancy unequivocally, it is considered to be a precursor for NHL development in SS. Factors implicated into lymphomagenesis in SS include dysregulation in the mechanisms leading to apoptosis, hyperstimulation of B-1 cells, and an infectious agent. Polyclonal lymphoproliferation characterizing SS might in some instances transform into monoclonal, and then to malignancy. Further studies on the mechanism whereby NHL develops in SS are warranted.

Aged↗
PubMed1996

Systemic lupus erythematosus in males. A study of 107 Latin American patients.

Clinical and laboratory features were analyzed in 107 Latin American male patients with systemic lupus erythematosus (SLE) who were compared with a group of 1,209 Latin American female patients with SLE to determine the presence of gender-associated differences. Males had an increased prevalence of renal disease, vascular thrombosis, and the presence of anti-dsDNA antibodies, as well as the use of moderate to high doses of corticosteroids, compared with female SLE patients. Although there was no difference in mortality from all causes, SLE-related mortality was higher in the male group. All these findings are consistent with a more severe disease in Latin American males than in female patients from the same region.

Adolescent↗
PubMed1995

Pulmonary involvement in rheumatoid arthritis.

Pulmonary involvement is one of the extra-articular manifestations of rheumatoid arthritis (RA) and includes pleurisy, parenchymal nodules, interstitial involvement, and airway disease. Rheumatoid pulmonary vasculitis is rare. Pulmonary disease also may be observed as a toxic event consequent to treatment for RA. Although RA is more common in women, rheumatoid lung disease occurs more frequently in men who have long-standing rheumatoid disease, positive rheumatoid factor and subcutaneous nodules. Pleural involvement, usually asymptomatic, is the most common manifestation of lung disease in RA and may occur concurrently with pulmonary nodulosis or interstitial disease. The clinical features and course of pulmonary fibrosis in RA are similar to those of idiopathic pulmonary fibrosis. Bronchiolitis obliterans organizing pneumonia (BOOP), which has been recently described in RA patients, has nonspecific clinical features. The histological patterns correspond to proliferative bronchiolitis in the airway and organizing pneumonia in the alveoli. Obstructive lung disease in RA includes obliterative bronchiolitis (OB) and bronchiectasis. OB is an acute illness characterized histologically by a constrictive bronchiolitis. It may be idiopathic or induced by D-penicillamine or intramuscular gold compounds. Methotrexate (MTX)-pneumonitis is an uncommon complication of MTX treatment. Its clinical presentation is not specific, and diagnosis must be made after exclusion of other causes of pulmonary diseases. It is uncertain if preexisting lung disease predisposes RA patients to MTX-pneumonitis. Treatment of lung disease in RA is empirical. Corticosteroids are usually administered and immunosuppressive drugs are often added when pulmonary disease progresses and/or steroid side-effects appear.

Arthritis, Rheumatoid↗
PubMed1995

Primary Sjögren's syndrome in men.

OBJECTIVE: To describe the clinical expression of primary Sjögren's syndrome (SS) in men, focusing on extraglandular manifestations (EGM) and serological markers of disease. METHODS: In a cross sectional and comparative study, adult men with primary SS were identified from a cohort study on SS, and 26 age matched adult women with primary SS were selected as a control group. All patients met the European classification criteria for SS. They were compared for demographic, clinical and laboratory findings. RESULTS: Thirteen men with primary SS were identified. Mean age at onset was 39 (SEM 4) years and mean duration of disease was 7.8 (1) years. Sicca complex or parotitis was the presenting feature in eight patients (61.5%), and an EGM in five (38.5%). During the course of the disease, EGM were present in 12 patients (92%), polyarthralgias and lymphopenia being the most frequent (38.5% each). Rheumatoid factor was positive in 73% of patients, antinuclear antibodies in 85%, anti-(SS-A) in 62%, and anti-(SS-B) in 46%. No statistical differences in the frequency of EGM or in the presence of autoantibodies were observed between men and women. However, men patients were more likely to have EGM. CONCLUSION: Primary SS in men is an uncommon condition with clinical and serological characteristics similar to those observed in women. Sex hormones may be incriminated in the pathogenesis of SS. However, it remains poorly understood whether sex hormones play a major role in the severity of disease and have any importance with regard to treatment.

Adult↗
PubMed1995

Ischemic optic neuropathy and high-level anticardiolipin antibodies in primary Sjögren's syndrome.

A 39-year-old woman with recurrent severe anterior ischemic optic neuropathy in the setting of Sjögren's syndrome was found to have high-titer IgM anticardiolipin antibodies (aCL) that were enhanced by the phospholipid-binding glycoprotein beta 2GP1. The recognition of IgM aCL-associated vasculopathy as a possible etiologic factor in the optic neuropathy in Sjögren's syndrome may be relevant in deciding appropriate therapy.

Adult↗