Suchergebnisse

The Murcia Twin Registry (MTR) was created in 2006, under the auspices of the University of Murcia and the regional Health Authority, aiming to develop a research resource in Spain intended to stimulate current research and new investigation on the analysis of genetic factors related to health and health-related behaviors. The MTR development strategy was designed as a step-by-step process. Initially, it was focused on women's health but nowadays it includes males and opposite-sex twins. The database comprises 2,281 participants born between 1940 and 1966 in the region of Murcia, in Spain. There have been three waves of data collection and today the MTR databases include questionnaire and anthropometric data as well as biological samples. The current main areas of research interest are health and health-related behaviors, including lifestyle, health promotion, and quality of life. Future short-term development points to the completion of the biobank and continuing the collection of longitudinal data.

4 páginas, 1 figura, a tabla. Los autores pertenecen a The dementia genetic Spanish consortium (DEGESCO). ; A non-synonymous genetic rare variant, rs75932628-T (p.R47H), in the TREM2 gene has recently been reported to be a strong genetic risk factor for Alzheimer's disease (AD). Also, rare recessive mutations have been associated with frontotemporal dementia (FTD). We aimed to investigate the role of p.R47H variant in AD and FTD through a multi-center study comprising 3,172 AD and 682 FTD patients and 2,169 healthy controls from Spain. We found that 0.6% of AD cases carried this variant compared to 0.1% of controls (odds ratio [OR]=4.12, 95% confidence interval [CI]: 1.21-14.00, P=0.014). A meta-analysis comprising 32,598 subjects from four previous studies demonstrated the large effect of the p.R47H variant in AD risk (OR=4.11, 95% CI: 2.99-5.68, P=5.27x10-18). We did not find an association between p.R47H and age of onset of AD or family history of dementia. Finally, none of the FTD patients harbored this genetic variant. These data strongly support the important role of p.R47H in AD risk and suggest that this rare genetic variant is not related to FTD. ; This study was supported by grants from Instituto de Salud Carlos III (PI12/01311 and 12/00013), grants from the Ministry of Science (SAF2010-15558, SAF2009-10434), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, Spain), Consolider (CSD2010-00045), and the Department of Health of the Government of Navarra (refs. 13085 and 3/2008). CR held during the period 2009-2013 a "Torres Quevedo" fellowship from the Spanish Ministry of Science and Technology, co-financed by the European Social Fund. Fundació ACE researchers are indebted to Trinitat Port-Carbó and her family who are supporting Fundació ACE scientific programs. ; Peer reviewed