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São Miguel do Couto, Portugal

Ben Othmane Y.,Tunis el Manar University | Ghazouani E.,Laboratory of Immunology | Mezlini A.,Salah Azeiz Oncology Institute | Lagha A.,Laboratory of Immunology | And 7 more authors.
Bulletin du Cancer

The variability in host immunogenetic background, especially in human major histocompatibilty genes, has been shown to influence the susceptibility to human papillomavirus (HPV) infection and cervical neoplasia. Here, we conducted a case-control study in Tunisian women to examine the effect of genetic variation in HLA class II DRB1 and DQB1 genes on invasive cervical cancer (ICC) and squamous cell carcinoma (SCC). HLA genotyping was performed by PCR sequence-specific primers technique. The data revealed significant positive and negative associations, suggesting either predisposing or protective effects of these genes in the disease outcome. DRB1*15, alone or linked to DQB1*06, was associated with a 2.7- and 3.5-fold increase in risk for ICC, respectively. DRB1*13-DQB1*03 showed a similar 3.5 risk effect. Concerning SCC, we observed a relatively higher, about 1.2 times more, risk effect for these genetic markers. In contrast, only one haplotype - DRB1*13-DQB1*06 - provides evidence for a weak protection (about 0.3-fold reduction) of ICC and SCC. In conclusion, we suggest that HLA class II polymorphisms are involved in the genetic susceptibility to cervical cancer in Tunisian women. Source

Melo B.C.S.,Hospital of Divino Espirito Santo of Ponta Delgada | Portocarrero A.,Genetica Medica e Diagnostico Pre Natal Professor Doutor Sergio Castedo | Alves C.,Genetica Medica e Diagnostico Pre Natal Professor Doutor Sergio Castedo | Sampaio A.,Hospital of Divino Espirito Santo of Ponta Delgada | And 3 more authors.
Clinical Medicine Insights: Case Reports

The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a small SMC(15) that was identified in prenatal diagnosis due to advanced maternal age. A 39-year-old woman underwent amniocentesis at 16 weeks of gestation. A fetal abnormal karyotype – 47,XX,+mar – with one sSMC was detected in all metaphases. Since this sSMC was critical in the parental decision to continue or interrupt this pregnancy, we proceeded to study the fetus and their parents. Cytogenetic and molecular analyses revealed a fetal karyotype 47,XX,+mar pat.ish idic(15)(ql2)(D15Zl++,SNRPN−), in which the sSMC(15) was a paternally inherited inverted duplicated chromosome and did not contain the critical region of Prader–Willi/Angelman syndromes. Moreover, fetal uniparental disomy was excluded. Based on this information and normal obstetric ultrasounds, the parents decided to proceed with the pregnancy and a phenotypically normal girl was born at 39 weeks of gestation. In conclusion, the clinical effects of sSMCs need to be investigated, especially when sSMCs are encountered at prenatal diagnosis. Here, although the paternal sSMC(15) was not associated with an abnormal phenotype, its characterization allows more accurate genetic counseling for the family progeny. © the authors, publisher and licensee Libertas Academica Limited. Source

Esteves L.M.,Molecular Genetics and Pathology Unit | Bulhoes S.M.,Molecular Genetics and Pathology Unit | Brilhante M.J.,Molecular Genetics and Pathology Unit | Mota-Vieira L.,Molecular Genetics and Pathology Unit | And 2 more authors.
BMC Research Notes

Background: Innate immune system is the first line of research when studying immune response to diverse infections and autoimmune/inflammatory diseases. This immune response has been reported to be genetically diverse, due to polymorphisms coded by different genes. For this reason, our purpose was to develop a multiplex assay that allows the genotyping of candidate single nucleotide polymorphisms (SNPs) in innate immune genes. Findings. We developed three multiplex PCR panels coupled with the minisequencing (SNaPshot) technique (multiplex PCR, multiplex primer extension, and capillary electrophoresis). The panels were tested in a sample set composed of 100 anonymous DNAs from healthy blood donors living in São Miguel Island (Azores, Portugal). Sixteen relevant SNPs among nine genes of the innate immune system - IL1, IL1β, IL6, IL10, IL12RB1, TLR2, TLR4, TLR9 and CD14 - were genotyped and validated by direct sequencing, with the exception of one that was undetected by minisequencing. We suggest that these panels can be used in future studies for detection of risk gene variants in several populations and/or diseases. Conclusions: In summary, we propose a multiplex assay that is able to identify the most frequent candidate SNPs in innate immune genes, using a medium scale genotyping platform. The assays can be used to evaluate the risk gene variants in populations of various geographic origins. © 2013 Esteves et al.; licensee BioMed Central Ltd. Source

Cabral R.,Molecular Genetics and Pathology Unit | Pires R.,Molecular Genetics and Pathology Unit | Pires R.,University of Lisbon | Anjos R.,Hospital of Santa Cruz | And 7 more authors.
Annals of Human Biology

Background: Congenital heart disease (CHD) is one common birth malformation, accounting for ∼30% of total congenital abnormalities. Aim: Considering the unknown role of consanguinity in causing CHD, this study hypothesised that consanguineous unions and/or familial aggregation may be frequent in the Azorean Island of São Miguel (Portugal). To that end, a retrospective observational study was performed based on genealogical and molecular analyses. Subjects and methods: The study enrolled 112 CHD patients from São Miguel Island, which allowed the assessment of type of family (simplex or multiplex), parental consanguinity and grandparental endogamy. Based on 15 STR markers, inbreeding coefficients (FIS) in the CHD cohort and healthy control group (n = 114) were estimated. Results: Multiplex families were 37.6% (n = 41/109), a rate considerably higher than previously described in the literature (< 15%). Moreover, 9.2% (n = 10/109) of the CHD families were consanguineous, mostly derived from third cousin unions, and 20.2% (n = 22/109) presented full grandparental endogamy. Higher FIS values were found in patients with parental consanguinity (0.0371) and patent ductus arteriosus (0.0277). Conclusion: This study analysed several genealogical and genetic features related with CHD, revealing the presence of parental consanguinity and extensive familial aggregation in the CHD patients from São Miguel Island. © 2015 Taylor & Francis. Source

Correia M.,Molecular Genetics and Pathology Unit | Branco C.C.,Molecular Genetics and Pathology Unit | Branco C.C.,Instituto Gulbenkian Of Ciencia | Branco C.C.,Center for Biodiversity | And 5 more authors.

The identification of clinically validated genetic variants contributing to complex disorders raise the possibility to investigate individuals' risk. In this line of research, the present work aimed to assess the genetic risk for cardiovascular disease (CVD) in Azoreans. Genotyping of 19 SNPs - 9 on 9p21, 5 on LDLR and 5 on USF1 - was performed by TaqMan assays on 170 healthy Azorean individuals. Results demonstrate that the most frequent haplotype in 9p21, with a frequency of 41.4%, is TGGGCGCGC, which harbors all risk alleles. Considering haplotype homozygosity data show that females present higher value of homozygosity for both LDLR (13.5%) and USF1 (15.3%), whereas males present higher value for the 9p21 region (8.2%). Interestingly, genetic profile analysis revealed differences in terms of geographic and gender distribution. The Azorean Central group presented a higher risk for atherosclerosis, 2.7 times higher when compared to the Eastern group, while the Eastern group shows 1.5 times higher risk for dyslipidemias. Moreover, Azorean females demonstrated a 4 times higher risk for dyslipidemias when compared to males, whereas males have an increased risk for atherosclerosis. Although allele frequencies in Azoreans were similar to those reported for the HapMap CEU population, the differences in terms of haplotype and genetic profile distribution must be taken in consideration when assessing genetic risk. Taken together, the data here presented evidence for the need to perform biomedical research and epidemiologic analysis in Azoreans with the aim of developing strategies to CVD prevention, health promotion and population education. © 2013 Elsevier B.V. Source

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