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Article
The paradox of bone mineral density and fracture risk in type 2 diabetes
Fracture risk in type 2 diabetes (T2D) patients is paradoxically increased despite no decrease in areal bone mineraldensity (BMD). This phenomenon, known as the “diabetic bone paradox”, has been attributed to ...
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Article
Open AccessBoth indirect maternal and direct fetal genetic effects reflect the observational relationship between higher birth weight and lower adult bone mass
Birth weight is considered not only to undermine future growth, but also to induce lifelong diseases; the aim of this study is to explore the relationship between birth weight and adult bone mass.
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Article
Open AccessOncogenic TRIB2 interacts with and regulates PKM2 to promote aerobic glycolysis and lung cancer cell procession
PKM2 is an important regulator of the aerobic glycolysis that plays a vital role in cancer cell metabolic reprogramming. In general, Trib2 is considered as a “pseudokinase”, contributing to different kinds of can...
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Article
Open AccessGenomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project
We initiate the Westlake BioBank for Chinese (WBBC) pilot project with 4,535 whole-genome sequencing (WGS) individuals and 5,841 high-density genoty** individuals, and identify 81.5 million SNPs and INDELs, ...
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Open AccessObservational and genetic evidence highlight the association of human sleep behaviors with the incidence of fracture
We combined conventional evidence from longitudinal data in UK Biobank and genetic evidence from Mendelian randomization (MR) approach to infer the causality between sleep behaviors and fracture risk. We found...
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Article
Open AccessEffect of CD14 polymorphisms on the risk of cardiovascular disease: evidence from a meta-analysis
CD14 polymorphisms are associated with an increased risk of cardiovascular events. So far, many studies have been conducted, whereas the results were not always consistent.
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Article
Comprehensive assessment of the association between genes on JAK-STAT pathway (IFIH1, TYK2, IL-10) and systemic lupus erythematosus: a meta-analysis
Previous studies have reported that genes relating to JAK-STAT pathway (IFIH1, TYK2 and IL-10) conferred the susceptibility to SLE. In this study, we performed a meta-analysis (including 43 studies) to evaluate t...
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Article
Open AccessGenome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation
Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulati...
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Article
Open AccessExome-wide rare variant analyses of two bone mineral density phenotypes: the challenges of analyzing rare genetic variation
Performance of a recently developed test for association between multivariate phenotypes and sets of genetic variants (MURAT) is demonstrated using measures of bone mineral density (BMD). By combining individu...
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Article
Associations between PTPN22 and TLR9 polymorphisms and systemic lupus erythematosus: a comprehensive meta-analysis
Previous studies have explored the relationship of PTPN22 and TLR9 polymorphisms with systemic lupus erythematosus (SLE). In consideration of the population stratification, conflicting results and updating dat...
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Article
Open AccessA combined reference panel from the 1000 Genomes and UK10K projects improved rare variant imputation in European and Chinese samples
Imputation using the 1000 Genomes haplotype reference panel has been widely adapted to estimate genotypes in genome wide association studies. To evaluate imputation quality with a relatively larger reference p...
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Article
Open AccessComprehensive Assessment of the Association between FCGRs polymorphisms and the risk of systemic lupus erythematosus: Evidence from a Meta-Analysis
We performed a meta analysis to assess the relationship of FCGRs polymorphisms with the risk of SLE. Thirty-five articles (including up to 5741 cases and 6530 controls) were recruited for meta-analysis. The st...
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Article
Open AccessGenome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density
Osteoporosis is a common and debilitating bone disease that is characterised by a low bone mineral density (BMD), a highly heritable trait. Genome-wide association studies (GWAS) have proven to be very success...
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Article
Ethnicity-stratified analysis of the association between IL-18 polymorphisms and systemic lupus erythematosus in a European population: a meta-analysis
We performed a meta-analysis to identify the association between polymorphisms in the promoter of interleukin-18 (IL-18) and susceptibility for systemic lupus erythematosus (SLE) . Genotype data for three single-...
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Article
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
Human population genomic studies, including whole‐genome sequencing, were undertaken to identify determinants of bone mineral density (BMD), a major predictor of osteoporotic fractures. Non‐coding variants wit...
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Article
Open AccessImproved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The U...
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Article
Erratum: Whole-genome sequence-based analysis of thyroid function
Nature Communications 6: Article number: 5681 (2015); Published 6 March 2015; Updated 20 May 2015 The original version of this Article noted incorrect affiliations for members of the UK10K Consortium, and cont...
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Article
Open AccessWhole-genome sequence-based analysis of thyroid function
Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-geno...
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Article
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins
Emmanouil Dermitzakis, Alfonso Buil and colleagues measure transcriptome-wide expression in a sample of twins to measure the relative contribution of genetic and environmental effects on allele-specific expres...
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Article
Corrigendum: Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
Nat. Genet. 42, 759–763 (2010); published online 22 August 2010; corrected after print 27 August 2014 In contrast to the version of this article initially published, the authors now find no evidence to support...
