T. Spector

Publications1,879
h-index199
Citations168,230
Highly Influential Citations5,990
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Genetic studies of body mass index yield new insights for obesity biology
TLDR
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals provide strong support for a role of the central nervous system in obesity susceptibility.
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids
TLDR
The results identify several novel loci associated with plasma lipids that are also associated with CAD and provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
TLDR
18 new loci associated with body mass index are identified, one of which includes a copy number variant near GPRC5B, and genes in other newly associated loci may provide new insights into human body weight regulation.
Osteoarthritis: New Insights. Part 1: The Disease and Its Risk Factors
TLDR
This article is part 1 of a two-part summary of an NIH conference, Stepping Away with OA: Prevention of Onset, Progression, and Disability of Osteoarthritis, which brought together experts in osteoarth arthritis from diverse backgrounds and provided a multidisciplinary and comprehensive summary of recent advances in the prevention.
Discovery and Refinement of Loci Associated with Lipid Levels
TLDR
It is found that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index.
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
TLDR
Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
The mutational constraint spectrum quantified from variation in 141,456 humans
TLDR
A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.
Epigenetic differences arise during the lifetime of monozygotic twins.
TLDR
Older monozygous twins exhibited remarkable differences in their overall content and genomic distribution of 5-methylcytosine DNA and histone acetylation, affecting their gene-expression portrait, indicating how an appreciation of epigenetics is missing from the understanding of how different phenotypes can be originated from the same genotype.
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
TLDR
It is demonstrated that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.
The effects of strontium ranelate on the risk of vertebral fracture in women with postmenopausal osteoporosis.
TLDR
Treatment of postmenopausal osteoporosis with strontium ranelate leads to early and sustained reductions in the risk of vertebral fractures.
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