ArticlePloS one2009
Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 6 of them syntheses that pooled it.
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Who cites it
58 citing papers in PubMed, 6 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass.Journal of human genetics · 2021Pooled it
- Three pleiotropic loci associated with bone mineral density and lean body mass.Molecular genetics and genomics : MGG · 2021Pooled it
- Two novel pleiotropic loci associated with osteoporosis and abdominal obesity.Human genetics · 2020Pooled 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
- Pooled it
- Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system.BMC medicine · 2011Pooled it
- Oncostatin M as a Multifunctional Regulator of Breast Cancer Progression: Current Insights and Future Therapeutic Avenues.IUBMB life · 2026Review
- Article
- The Role of SOX Transcription Factors in Ageing and Age-Related Diseases.International journal of molecular sciences · 2023Review
- Bivariate quantitative Bayesian LASSO for detecting association of rare haplotypes with two correlated continuous phenotypes.Frontiers in genetics · 2023Article
- Marginal Contribution Feature Importance - an Axiomatic Approach for Explaining Data.Proceedings of machine learning research · 2021Article
- Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications.Bone research · 2021Review
- Pleiotropic genomic variants at 17q21.31 associated with bone mineral density and body fat mass: a bivariate genome-wide association analysis.European journal of human genetics : EJHG · 2021Article
- The transcriptome-wide association search for genes and genetic variants which associate with BMI and gestational weight gain in women with type 1 diabetes.Molecular medicine (Cambridge, Mass.) · 2021Article
- Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.Journal of the Endocrine Society · 2020Article
- Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
- Association between osteoporosis and menopause in relation to SOX6 rs297325 variant in Taiwanese women.Menopause (New York, N.Y.) · 2020Article
- De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.American journal of human genetics · 2020Article
- A road map for understanding molecular and genetic determinants of osteoporosis.Nature reviews. Endocrinology · 2020Review
- Analysis of RAMP3 gene polymorphism with body composition and bone density in young and elderly women.Gene: X · 2019Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundCurrent genome-wide association studies (GWAS) are normally implemented in a univariate framework and analyze different phenotypes in isolation. This univariate approach ignores the potential genetic correlation between important disease traits. Hence this approach is difficult to detect pleiotropic genes, which may exist for obesity and osteoporosis, two common diseases of major public health importance that are closely correlated genetically. PRINCIPAL
findingsTo identify such pleiotropic genes and the key mechanistic links between the two diseases, we here performed the first bivariate GWAS of obesity and osteoporosis. We searched for genes underlying co-variation of the obesity phenotype, body mass index (BMI), with the osteoporosis risk phenotype, hip bone mineral density (BMD), scanning approximately 380,000 SNPs in 1,000 unrelated homogeneous Caucasians, including 499 males and 501 females. We identified in the male subjects two SNPs in intron 1 of the SOX6 (SRY-box 6) gene, rs297325 and rs4756846, which were bivariately associated with both BMI and hip BMD, achieving p values of 6.82x10(-7) and 1.47x10(-6), respectively. The two SNPs ranked at the top in significance for bivariate association with BMI and hip BMD in the male subjects among all the approximately 380,000 SNPs examined genome-wide. The two SNPs were replicated in a Framingham Heart Study (FHS) cohort containing 3,355 Caucasians (1,370 males and 1,985 females) from 975 families. In the FHS male subjects, the two SNPs achieved p values of 0.03 and 0.02, respectively, for bivariate association with BMI and femoral neck BMD. Interestingly, SOX6 was previously found to be essential to both cartilage formation/chondrogenesis and obesity-related insulin resistance, suggesting the gene's dual role in both bone and fat.
conclusionsOur findings, together with the prior biological evidence, suggest the SOX6 gene's importance in co-regulation of obesity and osteoporosis.
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