SynthesisHuman molecular genetics2014
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
Synthesis in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 20 of them syntheses that pooled it.
What it found
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Who cites it
99 citing papers in PubMed, 20 syntheses or guidelines pooled it.
- Large-scale circulating proteome association study (CPAS) meta-analysis identifies circulating proteins and pathways predicting incident hip fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Pooled it
- A multiethnic whole genome sequencing study to identify novel loci for bone mineral density.Human molecular genetics · 2022Pooled it
- Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass.Journal of human genetics · 2021Pooled it
- A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Pooled it
- Four pleiotropic loci associated with fat mass and lean mass.International journal of obesity (2005) · 2020Pooled it
- Two novel pleiotropic loci associated with osteoporosis and abdominal obesity.Human genetics · 2020Pooled it
- Identification of a 1p21 independent functional variant for abdominal obesity.International journal of obesity (2005) · 2019Pooled it
- Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density.Human genetics · 2019Pooled it
- Genome-wide association study of lncRNA polymorphisms with bone mineral density.Annals of human genetics · 2018Pooled it
- Pooled it
- Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.American journal of human genetics · 2018Pooled it
- P4 medicine and osteoporosis: a systematic review.Wiener klinische Wochenschrift · 2016Pooled it
- Association of 3q13.32 variants with hip trochanter and intertrochanter bone mineral density identified by a genome-wide association study.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Pooled it
- Pooled it
- Exploring the Major Sources and Extent of Heterogeneity in a Genome-Wide Association Meta-Analysis.Annals of human genetics · 2016Pooled it
- Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.BMC genomics · 2016Pooled it
- Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Pooled it
- Network-Based Meta-Analyses of Associations of Multiple Gene Expression Profiles with Bone Mineral Density Variations in Women.PloS one · 2016Pooled it
- Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche.The Journal of clinical endocrinology and metabolism · 2015Pooled it
- Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.Human molecular genetics · 2015Pooled it
39 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
56 authors.
Funding
Abstract
Aiming to identify novel genetic variants and to confirm previously identified genetic variants associated with bone mineral density (BMD), we conducted a three-stage genome-wide association (GWA) meta-analysis in 27 061 study subjects. Stage 1 meta-analyzed seven GWA samples and 11 140 subjects for BMDs at the lumbar spine, hip and femoral neck, followed by a Stage 2 in silico replication of 33 SNPs in 9258 subjects, and by a Stage 3 de novo validation of three SNPs in 6663 subjects. Combining evidence from all the stages, we have identified two novel loci that have not been reported previously at the genome-wide significance (GWS; 5.0 × 10(-8)) level: 14q24.2 (rs227425, P-value 3.98 × 10(-13), SMOC1) in the combined sample of males and females and 21q22.13 (rs170183, P-value 4.15 × 10(-9), CLDN14) in the female-specific sample. The two newly identified SNPs were also significant in the GEnetic Factors for OSteoporosis consortium (GEFOS, n = 32 960) summary results. We have also independently confirmed 13 previously reported loci at the GWS level: 1p36.12 (ZBTB40), 1p31.3 (GPR177), 4p16.3 (FGFRL1), 4q22.1 (MEPE), 5q14.3 (MEF2C), 6q25.1 (C6orf97, ESR1), 7q21.3 (FLJ42280, SHFM1), 7q31.31 (FAM3C, WNT16), 8q24.12 (TNFRSF11B), 11p15.3 (SOX6), 11q13.4 (LRP5), 13q14.11 (AKAP11) and 16q24 (FOXL1). Gene expression analysis in osteogenic cells implied potential functional association of the two candidate genes (SMOC1 and CLDN14) in bone metabolism. Our findings independently confirm previously identified biological pathways underlying bone metabolism and contribute to the discovery of novel pathways, thus providing valuable insights into the intervention and treatment of osteoporosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.