• Publications
  • Influence
Genetics and biology of vitamin D receptor polymorphisms.
Substantial progress has been made that will deepen the understanding of variability in the vitamin D endocrine system and might find applications in risk assessment of disease and in predicting response-to-treatment. Expand
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Light is shed on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility and within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. Expand
Hundreds of variants clustered in genomic loci and biological pathways affect human height
It is shown that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait, and indicates that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways. Expand
Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies
The many SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism and highlight the complex genetic architecture that underlies osteoporosis and variation in BMD. Expand
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index
Genetic loci associated with body mass index map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor, which may provide new insights into human body weight regulation. Expand
Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity
Approximately 1.5 billion people worldwide are overweight or affected by obesity, and are at risk of developing type 2 diabetes, cardiovascular disease and related metabolic and inflammatoryExpand
Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study.
This comprehensive candidate-gene analysis demonstrates that the risk allele of multiple VDR polymorphisms results in lower VDR mRNA levels, which could impact the vitamin D signaling efficiency and might contribute to the increased fracture risk the authors observed for these risk haplotype alleles. Expand
Epigenetic Signatures of Cigarette Smoking
Cigarette smoking has a broad impact on genome-wide methylation that, at many loci, persists many years aftersmoking cessation, indicating a pattern of persistent altered methylation, with attenuation, after smoking cessation. Expand
Homocysteine levels and the risk of osteoporotic fracture.
An increased homocysteine level appears to be a strong and independent risk factor for osteoporotic fractures in older men and women. Expand
Collaborative Meta-analysis: Associations of 150 Candidate Genes With Osteoporosis and Osteoporotic Fracture
This analysis of genome-wide association results from 5 large populations found many common genetic variants that have robust statistical evidence for association with various traits and diseases, including osteoporosis. Expand