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The peroxisome proliferator-activated receptor-gamma gene (PPARG) has been implicated in the etiology of type 2 diabetes mellitus and has been investigated in numerous epidemiologic studies. In this Human Genome Epidemiology review, the authors assessed this relation in an updated meta-analysis of 60 association studies. Electronic literature searches were(More)
Lipoprotein lipase (LPL) is a key enzyme in lipoprotein metabolism and a major candidate gene for coronary heart disease (CHD). The authors assessed associations between 7 LPL polymorphisms and lipid fractions and CHD risk in population-based cohort, case-control, and cross-sectional studies published by January 2007. Meta-analyses of 22,734 CHD cases and(More)
T he past decade has witnessed growing interest in genetic predisposition to common diseases, and along with rapid advancements in high-throughput genotyping technology, has resulted in a tremendous amount of published epidemiological evidence on gene-disease associations. Reported genetic associations with common diseases have become numerous and are(More)
Health needs assessment (HNA) is a commonly used process for those working in public health. The PHG Foundation has developed a Toolkit to provide users with a stepwise approach for undertaking a HNA on birth defects. We report the findings from using the Toolkit to examine needs in relation to policies and programs, services, and interventions for neural(More)
Personalised medicine initiatives in the UK In light of the increasing momentum towards personalised medicine and healthcare, driven by genomic science and a spectrum of technological and information tools [1], we discuss the challenges and impact of personalised approaches within the UK National Health Service (NHS). Various initiatives in the UK have(More)
Recent economic improvement in Brazil has been reflected in better maternal–child health indicators, with decreases in infant and perinatal mortality. However, under-five mortality due to congenital disorders remained unchanged, and congenital disorders have become the second leading cause of infant mortality. In the present study, we used the PHG(More)
Cell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we(More)
BACKGROUND Over recent years genetic testing for germline mutations in BRCA1/BRCA2 has become more readily available because of technological advances and reducing costs. OBJECTIVE To explore the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (EOC). METHODS Between 1 July 2013 and(More)
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