Populations genetics study of the Ammi Genus in the Azores

Dissertação de Mestrado, Biodiversidade e Biotecnologia Vegetal, 6 de Julho de 2016, Universidade dos Açores.

Characterisation of the Lipid Profile of the Portuguese Population

Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex aetiology in which interactions between multiple genetic and environmental factors play an important roles. The incidence rates of these diseases are increasing in developing countries as a result of the modification of lifestyles and increased prevalence of cardiovascular risk factors. Many independent cardiovascular risk factors could be modifiable, in contrast to the genetic risk factors. However, the associated risk of the genetic factors can be prevented if early identified, making genetic studies a priority in cardiovascular genetics research.

Survey of Amphiprion clarki & Amphiprion sebae populations in Persian Gulf by molecular genetics

Anemone fishes are a group of 28 species of coral reef fishes belonging to the family Pomacentridae, subfamily Amphiprioninae and all have an obligate symbiotic relationship with sea anemones. Two species of these small ornamental fishes have been identified in the Persian Gulf including Amphiprion clarkii and A. sebae. The phylogenetic relationship between Amphiprion species of the Persian Gulf was studied by collecting 15 samples from three Iranian islands, Larak, Farur and Kish. DNA was extracted from each sample and a part of mtDNA was amplified. Two pairs of primers were designed to amplify a final target of 400 by nested-PCR. Each amplicon was sequenced, aligned and genetic diversity among samples was investigated by phylogenetic analysis. Results show that there is no significant genetic variation among A. clarkii individuals; however, A. sebae individuals from Larak were different from other fishes of the same species. Most probably this is due to the ability of A. clarkii to be symbiotant with all 10 species of host sea anemones which enables it to spread its own population in the 3 islands. However, A. sebae is observed to be symbiotant only with one host in the sea, therefore, has one option that reduces its distribution.

Next-generation sequencing of hereditary hemochromatosis-related genes: novel likely pathogenic variants found in the Portuguese population

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1GNC)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5′-UTR of HAMP gene(c.-25GNA). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.

Reducing the global burden of depression : population level analysis of intervention cost-effectiveness in 14 world regions

International evidence on the cost and effects of interventions for reducing the global burden of depression remain scarce. Aims: To estimate the population-level cost-effectiveness of evidence-based depression interventions and their contribution towards reducing current burden. Method: Primary-care-based depression interventions were modelled at the level of whole populations in 14 epidemiological subregions of the world. Total population-level costs (in international dollars or I$) and effectiveness (disability adjusted life years (DALYs) averted) were combined to form average and incremental cost-effectiveness ratios. Results: Evaluated interventions have the potential to reduce the current burden of depression by 10–30%. Pharmacotherapy with older antidepressant drugs, with or without proactive collaborative care, are currently more cost-effective strategies than those using newer antidepressants, particularly in lower-income subregions. Conclusions: Even in resource-poor regions, each DALYaverted by efficient depression treatments in primary care costs less than 1 year of average per capita income, making such interventions a cost-effective use of health resources. However, current levels of burden can only be reduced significantlyif there is a substantialincrease substantial increase intreatment coverage.