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Biomedical subjects

E Coto

Publications and source records attributed to E Coto.

94 records · Page 6Linked to original sources
PubMedDate not supplied

Lack of association between polymorphisms of the coagulation factor VII and myocardial infarction in middle-aged Spanish men.

In order to determine the role of two polymorphisms in the factor VII gene (R353Q and intron 7 hypervariable region) in the susceptibility to develop early myocardial infarction, a total of 175 patients with acute myocardial infarction aged 50 years or less (mean age 41+/-7 years) and 200 controls (average age 42+/-6) without cardiovascular disease were genotyped for these polymorphisms. Gene and genotype frequencies did not differ between patients and controls. Although the 353-QQ genotype was at a higher frequency among controls (4%) compared to patients (1%), the difference did not reach statistical significance. Carriers of the H7-allele (intron 7 polymorphism) were at a slightly higher frequency among patients (51 vs. 43%; P=0.19; OR=1.36; 95% CI=1.09-1.70). Our data suggest a lack of association between both polymorphisms in the factor VII gene and early myocardial infarction in our population.

Adult↗
PubMedDate not supplied

Serotonin gene polymorphisms in patients with panic disorder.

INTRODUCTION: The objective is to investigate the possible association between four serotonin gene polymorphisms (T102C, A-1438G, 5-HTTLPR and VNTR-5HTT) and panic disorder (PD). PATIENTS AND METHOD: 92 PD outpatients (DSM-IV criteria) and 174 healthy volunteers from Asturias (control group) were included. Polymorphisms were determined after polymerase chain reaction amplification followed by digestion with restriction enzymes and electrophoresis on an agarose gel. RESULTS: Both 5-HT2A polymorphisms are in complete linkage disequilibrium in our population. No statistically significant differences in genotype frequencies of serotonin gene polymorphisms (T102C, A-1438G, 5HTTLPR and VNTR-5HTT) were found between patients and control subjects. Allele frequencies did not differ between both groups. No differences were found according to gender. CONCLUSIONS: The polymorphisms studied were not associated with PD in our population. However, larger patient samples are necessary to confirm or reject these findings.

Adult↗
PubMedDate not supplied

Multiple endocrine neoplasia type 1 (MEN1): LOH studies in a affected family and in sporadic cases.

Multiple endocrine neoplasia (Menl) is an autosomai dominant hereditary trait characterized by tumors of endocrine tissues. The MEN1 gene maps to chromosome llql3, has been recently isolated, and encodes a protein termed menin that is ubiquitously expressed. This gene is likely to be a tumor suppressor gene, with tumors developing after the inactivation of both copies of the gene in a single cell. In agreement with this, 11q-deletions (loss of heterozygosity) are frequently found in neoplasms from MEN1 patients. In this study, DNA from family-members was extracted and analysed for 10 microsatellites flanking the MEN1-gene on chromosome 11q. SSCP was used to determine the presence of MEN1-mutations in several patients. DNA was extracted from paraffin blocks containing tissue from 10 parathyroid tumors (4 familial and 6 sporadic) and 2 gastrinomas (both from patients of the Men1-family). LOH was determined by comparing the autoradiographic patterns of several markers between the normal tissue and the malignant tissue counterpart. All the affected individuals in the MEN1-family shared one haplotype, not present in the healthy individuals. We searched for mutations at the MEN1 gene (SSCP-analysis) in several affected members. An SSCP-mobility shift was found at exon 9, and direct sequencing showed that this corresponded to a common polymorphism at codon 418 (GAC/GAT), LOH, a genetic alteration characteristic of genomic regions containing tumor suppressor genes, was found in all the parathyroid tumors, but not in two gastrinomas. SSCP-analysis of the MEN1-exon 9 polymorphism showed that LOH included the MEN1-gene in the informative parathyroid tumors. In conclusion, LOH at 11q is frequent in Menl-parathyroid tumors, either sporadic or familial, and the deletion involves the MEN1-gene. In contrast, the two gastrinomas did not show LOH, indicating the existence of a second mutation other than the MEN1-deletion in these tumors. Our data suggest that the mechanism that drives tumorigenesis in Menl either familial or sporadic, is influenced by the tissue context.

Adolescent↗