Genomes and Genes
Affiliation: National Institute for Medical Research
- Increased level of linkage disequilibrium in rural compared with urban communities: a factor to consider in association-study designVeronique Vitart
Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Am J Hum Genet 76:763-72. 2005..Similar rural-urban contrasts are likely to exist in many other populations with stable rural subpopulations, which could influence the design of genetic association studies and national biobank data collections...
- Heritabilities of ocular biometrical traits in two croatian isolates with extended pedigreesVeronique Vitart
MRC Medical Research Council Human Genetics Unit, IGMM Institute of Genetics and Molecular Medicine, Edinburgh, Scotland, United Kingdom
Invest Ophthalmol Vis Sci 51:737-43. 2010..To assess the effects of body stature and years of education, in addition to age and sex, on six oculometric traits and to estimate the heritabilities of these quantitative traits in two Croatian cross-population studies...
- New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8Veronique Vitart
MRC Human Genetics Unit, IGMM, Edinburgh, UK
Hum Mol Genet 19:4304-11. 2010..These associations offer mechanistic insights into the regulation of CCT and offer new candidate genes for susceptibility to common disorders in which CCT has been implicated, including primary open-angle glaucoma and keratoconus...
- Genetic comparison of a Croatian isolate and CEPH European foundersPau Navarro
Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
Genet Epidemiol 34:140-5. 2010....
- Uncovering networks from genome-wide association studies via circular genomic permutationClaudia P Cabrera
MRC Human Genetics Unit, Medical Research Council, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, Scotland, United Kingdom
G3 (Bethesda) 2:1067-75. 2012..05, whereas applying circular genomic permutation reduces the number of significant results to a more credible 40% of that value. The circular permutation software ("genomicper") is available as an R package at http://cran.r-project.org/...
- Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic dataOzren Polasek
Public Health Sciences, University of Edinburgh, Edinburgh, UK
BMC Genomics 11:139. 2010..0625) were included in this study. All individuals were genotyped with the Illumina HumanHap300 array with 317,503 SNP markers...
- Inference of identity by descent in population isolates and optimal sequencing studiesDominik Glodzik
MRC Institute of Genetics and Molecular Medicine MRC IGMM, MRC Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK
Eur J Hum Genet 21:1140-5. 2013..We find that with sample sizes of 1000 individuals from an isolated population genotyped using a dense SNP array, and with 20% of these individuals sequenced, 65% of sequences of the unsequenced subjects can be partially inferred...
- Pedigree- and SNP-Associated Genetics and Recent Environment are the Major Contributors to Anthropometric and Cardiometabolic Trait VariationCharley Xia
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
PLoS Genet 12:e1005804. 2016..Appropriate description of the trait variation could help understand causes of intra-individual variation and in the detection of contributing loci and environmental factors. ..
- Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studiesPeter K Joshi
Centre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom
PLoS ONE 8:e68604. 2013..The imputation improvement corresponds to an increase in effective sample size of 28-38%, for SNPs with a minor allele frequency in the range 1-3%. ..
- Bayesian methods for instrumental variable analysis with genetic instruments ('Mendelian randomization'): example with urate transporter SLC2A9 as an instrumental variable for effect of urate levels on metabolic syndromePaul M McKeigue
Public Health Sciences Section, Division of Community Health Sciences, University of Edinburgh Medical School, Edinburgh, UK
Int J Epidemiol 39:907-18. 2010....
- Quantifying the increase in average human heterozygosity due to urbanisationIgor Rudan
Department of Public Health Sciences, University of Edinburgh, Edinburgh, UK
Eur J Hum Genet 16:1097-102. 2008....
- Genome-wide analysis of epistasis in body mass index using multiple human populationsWen Hua Wei
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK
Eur J Hum Genet 20:857-62. 2012..We conclude that genome-wide analysis of epistasis in multiple populations is an effective approach to provide new insights into the genetic regulation of BMI but requires additional efforts to confirm the findings...
- Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolatesWenhua Wei
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
PLoS ONE 6:e23836. 2011..We conclude that GWA epistasis analysis is useful despite relatively low power in small isolated populations...
- Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-modelsAthina Spiliopoulou
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, Pharmatics Limited, Edinburgh EH16 4UX, UK
Hum Mol Genet 24:4167-82. 2015....
- Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degenerationMorad Ansari
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
Hum Mol Genet 22:4857-69. 2013..The results are most consistent with a regulatory locus within a 32 kb region of the CFH gene, with a major effect on plasma CFH concentration and AMD susceptibility. ..
- SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and goutVeronique Vitart
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Nat Genet 40:437-42. 2008..SLC2A9 is a known fructose transporter, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes...
- Copy number variation across European populationsWanting Chen
Medical Genetics Section, Centre for Molecular Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom
PLoS ONE 6:e23087. 2011....
- Recent genomic heritage in ScotlandCarmen Amador
MRC IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK
BMC Genomics 16:437. 2015..In this study we developed a suite of analyses to disentangle the genomic differentiation within GS:SFHS individuals to describe and optimise the sample and methods for future analyses...
- Evidence of inbreeding depression on human heightRuth McQuillan
Centre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom
PLoS Genet 8:e1002655. 2012....
- Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adultsJennifer E Huffman
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK
Hum Mol Genet 20:5000-11. 2011..SLC9A9 encodes a proton pump which affects pH in the endosomal compartment and it was recently reported that changes in Golgi pH can impair protein sialylation, giving a possible mechanism for the observed association...
- Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2Jie Huang
From National Heart, Lung, and Blood Institute s Framingham Heart Study, Framingham, MA J H, A D J, C J O Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, MD J H, A D J, C J O MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, Scotland, United Kingdom J E H, V V, A F W, C H The Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY M Y, C J L Departments of Cardiology S T, J W J, Gerontology and Geriatrics S T, A J M d C, R G J W, and Molecular Epidemiology P E S, Leiden University Medical Center, The Netherlands Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands F W A Durrer Center for Cardiogenetic Research, P.O. Box 1365-91775
Arterioscler Thromb Vasc Biol 34:1093-101. 2014..We conducted a meta-analysis of genome-wide association studies to identify novel correlates of circulating levels of tPA...
- Genome-wide association uncovers shared genetic effects among personality traits and mood statesMichelle Luciano
Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK
Am J Med Genet B Neuropsychiatr Genet 159:684-95. 2012..The variance explained by individual SNPs was very small (up to 1%) confirming that there are no moderate/large effects of common SNPs on personality and related traits...
- Modulation of genetic associations with serum urate levels by body-mass-index in humansJennifer E Huffman
Medical Research Council MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine IGMM, University of Edinburgh, Edinburgh, United Kingdom
PLoS ONE 10:e0119752. 2015..These results illustrate a potentially powerful way to monitor changes occurring in obesogenic environment. ..
- Lost in transition--the Island of Susak (1951-2001)Igor Rudan
Department of Medical Statistics, Epidemiology and Medical Informatics, School of Public Health Andrija Stampar, University of Zagreb, Zagreb, Croatia
Coll Antropol 28:403-21. 2004..The results confirmed the positive correlation between inbreeding level and blood pressure that has been reported in the literature on several occasions. The last remnants of this traditional island community will soon be lost forever...