Corrado Masciullo

A methodological framework for accommodating Cancer Genomics Information in OMOP-CDM using Variation Representation Specification (VRS)

Elisa Benetti, Guido Scicolone, Muhammad Tajwar, Corrado Masciullo et autres

ABSTRACT The OMOP Common Data Model (OMOP CDM) in which observational health data are organized and stored is a broadly accepted data standard which helps clinical research facilitating federation study protocols. In case of cancer studies, there is a growing need to …

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Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

Felix R. Day, Katherine S. Ruth, Deborah J. Thompson, Kathryn L. Lunetta et autres

Menopause timing has a major impact on infertility and risk of disease. Younger age at natural (nonsurgical) menopause (ANM) is associated with a higher risk of osteoporosis, cardiovascular disease, and type 2 diabetes and a lower risk of breast cancer. Late menopause …

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Felix R. Day, Katherine S. Ruth, Deborah J. Thompson, Kathryn L. Lunetta et autres

gb, us, ee, nl, is, de, it, ch, ca, es, fi, dk, no, au, se, fr (code pays fourni par la source)

Directional dominance on stature and cognition in diverse human populations

Peter K. Joshi, Tõnu Esko, Hannele Mattsson, Niina Eklund et autres

An analysis of 16 health-related quantitative traits in approximately 350, 000 individuals reveals statistically significant associations between genome-wide homozygosity and four complex traits (height, lung function, cognitive ability and educational attainment); in each case increased homozygosity associates with a decreased trait value, …

Directional dominance on stature and cognition in diverse human populations

Peter K. Joshi, Tõnu Esko, Hannele Mattsson, Niina Eklund et autres

jp, gb, us, ca, ee, fi, it, is, no, se, nl, ch, in, au, gr, de, at, fr, dk (code pays fourni par la source)

Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans

Jennifer E. Huffman, Eva Albrecht, Alexander Teumer, Massimo Mangino et autres

We tested for interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, in up to 42569 participants. Both stratified genome-wide association (GWAS) analyses, in lean, overweight and obese individuals, and regression-type analyses in a non BMI-stratified …

gb, de, ch, it, ee, fi, us, nl, is, nz, se, hr, es (code pays fourni par la source)

Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease

Marco Medici, Eleonora Porcu, Giorgio Pistis, Alexander Teumer et autres

Autoimmune thyroid diseases (AITD) are common, affecting 2-5% of the general population. Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of autoimmune hypothyroidism (Hashimoto's thyroiditis), as well as autoimmune hyperthyroidism (Graves' disease). As the possible causative genes of TPOAbs …

Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease

Marco Medici, Eleonora Porcu, Giorgio Pistis, Alexander Teumer et autres

Autoimmune thyroid diseases (AITD) are common, affecting 2-5% of the general population. Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of autoimmune hypothyroidism (Hashimoto's thyroiditis), as well as autoimmune hyperthyroidism (Graves' disease). As the possible causative genes of TPOAbs …

nl, it, de, au, us, be, fi, gb, dk, ca, pl (code pays fourni par la source)

Iron Status Independently Associates With Bone Mineral Density At Population Level. Insights From The Val Borbera Study

Nicola Martinelli, Michela Traglia, Fabiana Busti, Marcella Sirtori et autres

Background and Aims Osteoporosis is a multifactorial major health problem affecting over 200 million people worldwide. It is long known as a complication of marked iron overload, both primary (i.e. genetic hemochromatosis) and secondary (i.e. transfusional iron overload), but only recently cellular …

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Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans

Giorgio Pistis, Shawntel Okonkwo, Michela Traglia, Cinzia Sala et autres

The red blood cell related traits are highly heritable but their genetics are poorly defined. Only 5-10% of the total observed variance is explained by the genetic loci found to date, suggesting that additional loci should be searched using approaches alternative to …

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Correction: Increased Serum Hepcidin Levels in Subjects with the Metabolic Syndrome: A Population Study

Nicola Martinelli, Michela Traglia, Natascia Campostrini, Ginevra Biino et autres

The recent discovery of hepcidin, the key iron regulatory hormone, has changed our view of iron metabolism, which in turn is long known to be linked with insulin resistant states, including type 2 diabetes mellitus and the Metabolic Syndrome (MetS).Serum ferritin levels …

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A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function

Eleonora Porcu, Marco Medici, Giorgio Pistis, Cláudia B. Volpato et autres

Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, even mild alterations in thyroid function are associated with weight changes, …

it, nl, de, au, gb, us, fi, ie, ca (code pays fourni par la source)