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Morales-Piga A.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | Alonso-Ferreira V.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | Villaverde-Hueso A.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | Posada de la Paz M.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | And 3 more authors.
American Journal of Medical Genetics, Part A | Year: 2013

Osteochondrodysplasias are a heterogeneous group of more than 200 entities, characterized by abnormalities of cartilage, bone growth, and skeletal development. The aim of this study was to assess temporal and spatial changes in overall mortality due to these disorders in Spain, using data from a nationwide registry. Annual deaths showing osteochondrodysplasias as the underlying cause of death were selected using the International Classification of Diseases-9th revision (ICD-9) codes for the period 1981 through 1998, and ICD-10 codes for the period 1999 through 2008. Age-adjusted mortality rates were calculated by sex, and geographic analysis was performed by municipality. A total of 679 deaths were recorded (53% men). Age-adjusted mortality rates went from 0.09 (0.06, 0.12) per 100,000 population in 1981 to 0.05 (0.03, 0.08) per 100,000 population in 2008. A changing trend in the age-standardized mortality rate was in evidence, with an annual increase of 2.4% (-0.4, 5.2) from 1981 to 1994, and an annual decrease of -7.3% (-10.9, -3.5) from 1995 onwards. Geographic analysis showed some places situated in the west and south of Spain with greater risk of mortality. There is a need to identify risk factors and to increase overall knowledge about the life expectancy and epidemiology of osteochondrodysplasias. © 2013 Wiley Periodicals, Inc. Source


Fernandez-Navarro P.,Carlos III Institute of Health | Fernandez-Navarro P.,Consortium for Biomedical Research in Epidemiology and Public Health | Pita G.,Human Genotyping Unit CeGen | Santamarina C.,Galicia Breast Cancer Screening Programme | And 14 more authors.
European Journal of Cancer | Year: 2013

Background: Mammographic density (MD) is regarded as an intermediate phenotype in breast cancer development. This association study investigated the influence of 14 breast cancer susceptibility loci identified through previous genome-wide association studies on MD among the participants in the "Determinants of Density in Mammographies in Spain" (DDM-Spain) study. Methods: Our study covered a total of 3348 Caucasian women aged 45-68 years, recruited from seven Spanish breast cancer screening centres having DNA available. Mammographic density was blindly assessed by a single reader using a semiquantitative scale. Ordinal logistic models, adjusted for age, body mass index and menopausal status, were used to estimate the association between each genotype and MD. Results: Evidence of association with MD was found for variant rs3803662 (TOX3) (Odds Ratio (OR) = 1.13, 95% Confidence Interval (CI) = 1.03-1.25), and marginal evidence of association for susceptibility loci rs3817198 (LSP1) (OR = 1.09, 95% CI = 1.00-1.20) and rs2981582 (FGFR2) (OR = 0.92, 95% CI = 0.84-1.01). Two other loci were associated with MD solely among pre-menopausal women, namely, rs4973768 (SLC4A7) (OR = 0.83, 95% CI = 0.70-1.00) and rs4415084 (MEPS30) (OR = 1.22, 95% CI = 1.00-1.49). Conclusions: Our findings lend some support to the hypothesis which links these susceptibility loci to MD. © 2012 Elsevier Ltd. All rights reserved. Source


Fernandez-Navarro P.,Carlos III Institute of Health | Fernandez-Navarro P.,Consortium for Biomedical Research in Epidemiology and Public Health | Gonzalez-Neira A.,Human Genotyping Unit CeGen | Pita G.,Human Genotyping Unit CeGen | And 21 more authors.
International Journal of Cancer | Year: 2015

Mammographic density (MD) is an intermediate phenotype for breast cancer. Previous studies have identified genetic variants associated with MD; however, much of the genetic contribution to MD is unexplained. We conducted a two-stage genome-wide association analysis among the participants in the "Determinants of Density in Mammographies in Spain" study, together with a replication analysis in women from the Australian MD Twins and Sisters Study. Our discovery set covered a total of 3,351 Caucasian women aged 45 to 68 years, recruited from Spanish breast cancer screening centres. MD was blindly assessed by a single reader using Boyd's scale. A two-stage approach was employed, including a feature selection phase exploring 575,374 SNPs in 239 pairs of women with extreme phenotypes and a verification stage for the 183 selected SNPs in the remaining sample (2,873 women). Replication was conducted in 1,786 women aged 40 to 70 years old recruited via the Australian Twin Registry, where MD were measured using Cumulus-3.0, assessing 14 SNPs with a p value <0.10 in stage 2. Finally, two genetic variants in high linkage disequilibrium with our best hit were studied using the whole Spanish sample. Evidence of association with MD was found for variant rs11205277 (OR = 0.74; 95% CI = 0.67-0.81; p = 1.33 × 10-10). In replication analysis, only a marginal association between this SNP and absolute dense area was found. There were also evidence of association between MD and SNPs in high linkage disequilibrium with rs11205277, rs11205303 in gene MTMR11 (OR = 0.73; 95% CI = 0.66-0.80; p = 2.64 × 10-11) and rs67807996 in gene OTUD7B (OR = 0.72; 95% CI = 0.66-0.80; p = 2.03 × 10-11). Our findings provide additional evidence on common genetic variations that may contribute to MD. © 2014 UICC. Source


Morales-Piga A.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | Bachiller-Corral J.,Ramon y Cajal Hospital | Villaverde-Hueso A.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | Alonso-Ferreira V.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | And 3 more authors.
Anthropologischer Anzeiger | Year: 2012

The aim of this paper is to investigate heritable factors that might be related to the recognised genetic susceptibility for developing Paget's disease of bone (PD). This was a hospital- based, case-control study of a systematically selected group of PD patients and a group of controls drawn from the same health setting. In these populations we assessed surname pattern, parental consanguinity and constitutional physical traits. In a separate case-control analysis, genetically-based features and pathological traits of interest for genetic inference in 43 demonstrated familial cases were then compared to those in 24 sporadic cases. Results showed coincidence of three or four surnames (Odds Ratio [OR] = 5.6; 95% CI = 1.7-18.5), degree of parental consanguinity (OR = 4.1; 95% CI = 2.1-1.8), and green or blue eye colour (OR = 1.5; 95% CI = 1.1-2.1) were significantly associated with PD. Comparison of proven familial and sporadic PD cases showed that the former had a stronger association with Monckeberg- type vascular calcifications (32% vs. 4 %; p = 0.02), percentage of skeleton affected (13.1 vs. 9.0), and green and blue eye colour (82% vs. 25%; p = 0.006), with Monckebergtype vascular calcifications being the main variable of interest (OR = 30.9; 95% CI = 12.75- 347.00) in the multivariate analysis. In conclusion, heritable factors are crucial in the pathogenesis of PD and, in line with other data sources, might account for the ethnic predisposition observed in different countries. © 2012 E. Schweizerbart'sche Verlagsbuchhandlung, Stuttgart, Germany. Source


Hens M.J.,Rare Diseases Research Institute | Alonso-Ferreira V.,Rare Diseases Research Institute | Villaverde-Hueso A.,Rare Diseases Research Institute | Villaverde-Hueso A.,Consortium for Biomedical Research in Rare Diseases | And 4 more authors.
Community Dentistry and Oral Epidemiology | Year: 2012

Objective: To study the cost-effectiveness of four alternative treatments for burning mouth syndrome (BMS). Methods: A cost-effectiveness analysis was conducted from a healthcare payer perspective of four therapy strategies (amisulpride, paroxetine, sertraline and topical clonazepam), using a decision-tree model that incorporated direct healthcare costs and probabilities associated with the possible events and outcomes. Average cost-effectiveness and incremental cost-effectiveness ratios were calculated. Sensitivity analyses included the costs of brand name and generic drugs in five European countries (France, Italy, the Netherlands, Spain and UK), as well as two scenarios with different treatment length. Results: Of the drugs analysed, topical clonazepam proved to be the most cost-effective therapy. Although generic proved more efficient than brand name drugs, they displayed no advantage over brand name topical clonazepam. The Netherlands was the country with the highest overall drug efficiency. Sensitivity analyses highlighted the robustness of the model, because topical clonazepam proved to be the most efficient therapy under all the different scenarios. Conclusions: Topical clonazepam, which previous analyses of clinical evidence have shown to be the drug of choice for BMS, also proved to be the most cost-effective of the drugs analysed for this condition. © 2011 John Wiley & Sons A/S. Source

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