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Andreou A.,National and Kapodistrian University of Athens | Andreou A.,Hygeia General Hospital | Papapetrou C.,Hygeia General Hospital | Papadimitriou K.,Cephalogenetics Diagnostic Center | And 3 more authors.
In Vivo | Year: 2015

Background: Pathogenesis of cerebral aneurysms implicates several risk factors. Three common thrombophilia-predisposing mutations were studied in patients with cerebrovascular aneurysms. Patients and Methods: A total of 186 Greeks (66 patients with intracranial aneurysm and 120 healthy controls) were studied. Fifteen patients had a family history of thrombophilia, while two of them had a first-degree relative with an aneurysm. Genetic analysis for thrombophilia-predisposing mutations factor V Leiden, factor II (prothrombin) G20210A and methylenetetrahydrofolate reductase C677T was performed in all subjects. Results: Genotypic distributions and allelic frequencies were compatible with the Hardy-Weinberg equilibrium. There was no significant difference between healthy individuals and patients in mutant allelic frequencies of thrombophilia mutations. Nevertheless, the mutant allelic frequencies of factor V and II mutations were significantly increased in the sub-group of patients with a positive family history of thrombophilia compared to controls (p≤0.003). Conclusion: Certain thrombophilia-related mutations may contribute to pathogenesis of intracranial aneurysms in a subset of the general population. © 2015, International Institute of Anticancer Research. All rights reserved.

Yapijakis C.,National and Kapodistrian University of Athens | Yapijakis C.,Cephalogenetics Diagnostic Center | Serefoglou Z.,Cephalogenetics Diagnostic Center | Papadimitriou K.,Cephalogenetics Diagnostic Center | Makrinou E.,Institute of Immunology
Andrologia | Year: 2015

Genes located on Y chromosome and expressed in testis are likely to be involved in spermatogenesis. TTTY2 is a Y-linked multicopy gene family of unknown function that includes TTTY2L2A and TTTY2L12A at Yq11 and Yp11 loci respectively. Using PCR amplification, we screened for TTTY2L2A- and TTTY2L12A-associated deletions, in 94 Greek men with fertility problems. Patients were divided into three groups as following: group A (n = 28) included men with idiopathic moderate oligozoospermia, group B (n = 34) with idiopathic severe oligozoospermia and azoospermia, and group C (n = 32) with oligo- and azoospermia of various known etiologies. No deletions were detected in group C patients and 50 fertile controls. However, two patients from group A had deletions in TTTY2L2A (7.1%) and six in TTTY2L12A (21.4%), whereas from group B, four patients had deletions in TTTY2L2A (11.8%) and 10 in TTTY2L12A (29.4%). In addition, five patients from both groups A and B (8%) appeared to have deletions in both studied TTTY2 genes, although these are located very far apart. These results indicate that the TTTY2 gene family may play a significant role in spermatogenesis and suggest a possible mechanism of nonhomologous recombinational events that may cause genomic instability and ultimately lead to male infertility. © 2014 Blackwell Verlag GmbH.

PubMed | Evangelismos General Hospital and Cephalogenetics Diagnostic Center
Type: Journal Article | Journal: In vivo (Athens, Greece) | Year: 2016

Thrombophilia-related mutations, such as coagulation factor V Leiden and factor II (G20210A), have been associated with female infertility due to spontaneous abortions during pregnancy. The possible role of mutations of these two factors in male infertility has not been studied to date.A total of 208 unrelated Greek men were investigated, including 108 infertile men with idiopathic oligozoospermia, azoospermia, and oligozoospermia of various etiologies, as well as 100 fertile male controls. DNA extracted from participants sperm or blood was analyzed for factor V Leiden and factor II G20210A mutations.There were no significant differences in factor V and factor II genotypes between infertile men and normal controls.An association of the two common thrombophilia-related mutations with male infertility was not observed in this preliminary study.

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