Human height and body mass index are influenced by a large number of genes, each with small effects, along with environment. To identify common genetic variants associated with these traits, we performed genome-wide association studies in 11,536 individuals composed of Australian twins, family members, and unrelated individuals at approximately 550,000 genotyped SNPs. We identified a single genome-wide significant variant for height (P value=1.06x10(-9)) located in HHIP, a well-replicated height-associated gene. Suggestive levels of association were found for other known genes associated with height (P values<1x10(-6)): ADAMTSL3, EFEMP1, GPR126, and HMGA2; and BMI (P values<1x10(-4)): FTO and MC4R. Together, these variants explain less than 2% of total phenotypic variation for height and 0.5% for BMI.
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http://dx.doi.org/10.1375/twin.13.2.179 | DOI Listing |
PLoS One
January 2025
Department of Laboratory, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, P.R. China.
Background: Systemic lupus erythematosus (SLE) is a complex and incurable autoimmune disease, so several drug remission for SLE symptoms have been developed and used at present. However, treatment varies by patient and disease activity, and existing medications for SLE were far from satisfactory. Novel drug targets to be found for SLE therapy are still needed.
View Article and Find Full Text PDFSci Adv
January 2025
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
We applied an MRI technique diffusion tensor imaging along the perivascular space (DTI-ALPS) for assessing glymphatic system (GS) in a genome-wide association study (GWAS) and phenome-wide association study (PheWAS) of 40,486 European individuals. Exploratory analysis revealed 17 genetic loci significantly associating with the regional DTI-ALPS index. We found 58 genes, including and , which prioritized in the DTI-ALPS index subtypes and associated with neurodegenerative diseases.
View Article and Find Full Text PDFVet Anim Sci
March 2025
Institute of Molecular Genetics of the Czech Academy of Sciences, Vídeňská 1083, 142 20 Prague 4, Czech Republic.
In the past years, dogs have served as a convenient natural model organism for longevity due to their similarity with humans concerning not only their environment but also the diseases and complications occurring in older age. Since many dog breeds have significantly shorter lifespan than their closely related breeds, identification of genes associated with longevity may help to elucidate its background and serve as a possible tool for selective breeding of long-living dogs. This genome-wide association study (GWAS) was undertaken to identify the candidate genes associated with longevity in Cavalier King Charles Spaniel individuals that have reached the age of more than 13 years.
View Article and Find Full Text PDFPeerJ
January 2025
School of Mathematics and Computer Science, Gannan Normal University, Ganzhou, China.
Background: Convolutional neural networks have excellent modeling abilities to complex large-scale datasets and have been applied to genomics. It requires converting genotype data to image format when employing convolutional neural networks to genome-wide association studies. Existing studies converting the data into grayscale images have shown promising.
View Article and Find Full Text PDFIndian J Thorac Cardiovasc Surg
February 2025
Department of Cardiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001 Anhui China.
Purpose: Acute aortic dissection is a serious cardiovascular emergency with a high mortality rate. Its pathogenesis is complex and remains unclear. This study aimed to assess the connection between the levels of genetically predicted circulating metabolites and the risk of aortic dissection.
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