Ian N M Day

Summary

Affiliation: University of Bristol
Country: UK

Publications

  1. pmc Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Am J Epidemiol 169:505-14. 2009
  2. pmc Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database
    Christopher A Raistrick
    Bristol Genetic Epidemiology Laboratories, School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    PLoS ONE 5:e13340. 2010
  3. pmc Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'
    Tom R Gaunt
    Bristol Genetic Epidemology Laboratories BGEL and MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK
    BMC Bioinformatics 8:428. 2007
  4. doi request reprint dbSNP in the detail and copy number complexities
    Ian N M Day
    MRC Centre CAiTE and Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK
    Hum Mutat 31:2-4. 2010
  5. doi request reprint UCHL1 (PGP 9.5): neuronal biomarker and ubiquitin system protein
    Ian N M Day
    Bristol Genetic Epidemiology Laboratory and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS82BN, UK
    Prog Neurobiol 90:327-62. 2010
  6. pmc Associations between a polymorphism in the pleiotropic GCKR and Age-related phenotypes: the HALCyon programme
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    PLoS ONE 8:e70045. 2013
  7. pmc A multi-cohort study of polymorphisms in the GH/IGF axis and physical capability: the HALCyon programme
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    PLoS ONE 7:e29883. 2012
  8. pmc Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS)
    Mohammad Reza Abdollahi
    Bristol Genetic Epidemiology Laboratory, University of Bristol, No 24 Tyndall Avenue, Bristol, BS8 1TQ, UK
    Dis Markers 24:11-7. 2008
  9. pmc Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol, UK
    J Nutr 143:606-12. 2013
  10. pmc Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol BS8 2PS, UK
    Bone 52:278-85. 2013

Detail Information

Publications39

  1. pmc Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Am J Epidemiol 169:505-14. 2009
    ..The authors also present a Web program (http://www.oege.org/software/hwe-mr-calc.shtml) for estimating possible missingness and an approach to evaluating missingness under different genetic models...
  2. pmc Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database
    Christopher A Raistrick
    Bristol Genetic Epidemiology Laboratories, School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    PLoS ONE 5:e13340. 2010
    ..We set out to explore the prevalence of STEPs in the human genome and validate this new category of protein quantitative trait loci (pQTL) using publicly available data...
  3. pmc Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'
    Tom R Gaunt
    Bristol Genetic Epidemology Laboratories BGEL and MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK
    BMC Bioinformatics 8:428. 2007
    ....
  4. doi request reprint dbSNP in the detail and copy number complexities
    Ian N M Day
    MRC Centre CAiTE and Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK
    Hum Mutat 31:2-4. 2010
    ..This article overviews dbSNP itself, these studies, and their implications...
  5. doi request reprint UCHL1 (PGP 9.5): neuronal biomarker and ubiquitin system protein
    Ian N M Day
    Bristol Genetic Epidemiology Laboratory and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS82BN, UK
    Prog Neurobiol 90:327-62. 2010
    ..Antibodies to the protein have found remarkably widespread application in the detection of fine nerves in peripheral tissues of many vertebrate species...
  6. pmc Associations between a polymorphism in the pleiotropic GCKR and Age-related phenotypes: the HALCyon programme
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    PLoS ONE 8:e70045. 2013
    ..However, associations between SNPs in the gene and other ageing phenotypes such as cognitive and physical capability have not been reported...
  7. pmc A multi-cohort study of polymorphisms in the GH/IGF axis and physical capability: the HALCyon programme
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    PLoS ONE 7:e29883. 2012
    ..The growth hormone/insulin-like growth factor (GH/IGF) axis is involved in muscle function and genetic variants in genes in the axis may influence measures of physical capability...
  8. pmc Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS)
    Mohammad Reza Abdollahi
    Bristol Genetic Epidemiology Laboratory, University of Bristol, No 24 Tyndall Avenue, Bristol, BS8 1TQ, UK
    Dis Markers 24:11-7. 2008
    ..Liquid phase genotyping of SNP rs4343 may be preferable to gel based ACE I/D genotyping both for technical and functional reasons...
  9. pmc Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol, UK
    J Nutr 143:606-12. 2013
    ....
  10. pmc Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol BS8 2PS, UK
    Bone 52:278-85. 2013
    ..Genetic variants of indicators of bone and joint health may be associated with measures of physical capability...
  11. pmc ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    Hum Mutat 32:1008-18. 2011
    ..The ACTN3 R577X genotype is associated with sprint/power athletic status in Europeans, but does not appear to be associated with objective measures of physical capability in the general population...
  12. pmc The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women: findings from the British Women's Heart and Health Study
    Debbie A Lawlor
    Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, UK
    J Epidemiol Community Health 61:85-7. 2007
    ..In the absence of such studies in non-occupational populations, these conclusions may not be valid...
  13. pmc Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol
    Philip A I Guthrie
    Bristol Genetic Epidemiology Laboratory BGEL, MRC Centre for Causal Analyses in Translational Epidemiology MRC CAiTE, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Clifton BS8 2BN, UK
    Gene 499:8-13. 2012
    ....
  14. pmc Molecular and population analysis of natural selection on the human haptoglobin duplication
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, United Kingdom
    Ann Hum Genet 76:352-62. 2012
    ..1. Taken together, our results represent the first molecular analysis of natural selection in the Hp CNV genetic region...
  15. doi request reprint Genetic variants in the vitamin d receptor are associated with advanced prostate cancer at diagnosis: findings from the prostate testing for cancer and treatment study and a systematic review
    Lina Chen
    Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Cancer Epidemiol Biomarkers Prev 18:2874-81. 2009
    ..84; 95% confidence interval, 0.71-1.00; P(unadjusted) = 0.050; P(adjusted) = 0.014). Our finding provides some support for the hypothesis that low levels of vitamin D may increase the risk of prostate cancer progression...
  16. pmc Amplification ratio control system for copy number variation genotyping
    Philip A I Guthrie
    Bristol Genetic Epidemiology Laboratory and MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Oakfield Grove, Clifton BS8 2BN, UK
    Nucleic Acids Res 39:e54. 2011
    ..The design is generic, simple to set up and economical. Comparisons with real-time PCR and other techniques are made and CNV assays demonstrated for haptoglobin duplicon and 'chemokine (C-C motif) ligand 3-like 1' gene...
  17. doi request reprint Use of genotype frequencies in medicated groups to investigate prescribing practice: APOE and statins as a proof of principle
    Neil M Davies
    MRC Centre CAiTE and Bristol Genetic Epidemiology Laboratories, School of Social and Community Medicine, University of Bristol, Bristol, UK
    Clin Chem 57:502-10. 2011
    ..As an example, we hypothesized that because APOE (apolipoprotein E) alleles affect the LDL cholesterol (LDLc) concentration, APOE genotype frequencies in statin takers should act as a proxy for the prevailing treatment threshold of LDLc...
  18. pmc Lactase persistence-related genetic variant: population substructure and health outcomes
    George Davey Smith
    MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, UK
    Eur J Hum Genet 17:357-67. 2009
    ..19 (0.87, 1.64). The lactase persistence variant could contribute to the examination of data for the existence of, and then statistical control for, population substructure in genetic association studies...
  19. pmc Predicting the functional consequences of cancer-associated amino acid substitutions
    Hashem A Shihab
    Bristol Centre for Systems Biomedicine and MRC CAiTE Centre, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK
    Bioinformatics 29:1504-10. 2013
    ..Here, we describe an adaptation of our original algorithm that incorporates a cancer-specific model to potentiate the functional analysis of driver mutations...
  20. doi request reprint Genetic association study of BDNF in depression: finding from two cohort studies and a meta-analysis
    Lina Chen
    Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 147:814-21. 2008
    ..89-1.26, P = 0.537) comparing MM with VV genotypes and an OR of 0.97 (95% CI: 0.89-1.05, P = 0.403) comparing MV with VV genotypes. Our findings suggest that BDNF genotype does not exert a major influence on the development of depression...
  21. pmc Structural and population-based evaluations of TBC1D1 p.Arg125Trp
    Tom G Richardson
    Bristol Genetic Epidemiology Laboratories, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol, United Kingdom
    PLoS ONE 8:e63897. 2013
    ..06, P = 0.80). Our analysis suggests that R125W in TBC1D1 plays a role in the binding of an effector protein, but we find no evidence that the R125W variant is related to mean BMI or odds of obesity in a general population sample...
  22. pmc Absence of association of a single-nucleotide polymorphism in the TERT-CLPTM1L locus with age-related phenotypes in a large multicohort study: the HALCyon programme
    Tamuno Alfred
    School of Social and Community Medicine, University of Bristol, UK
    Aging Cell 10:520-32. 2011
    ....
  23. pmc Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
    Hashem A Shihab
    Bristol Centre for Systems Biomedicine and MRC CAiTE Centre, School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    Hum Mutat 34:57-65. 2013
    ..A Web-based implementation of FATHMM, including a high-throughput batch facility and a downloadable standalone package, is available at http://fathmm.biocompute.org.uk...
  24. pmc A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array
    Tom R Gaunt
    MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Oakfield Grove, Bristol, UK
    Eur J Hum Genet 21:779-83. 2013
    ..In conclusion, variation at several genetic loci influences intrinsic blood coagulation as measured by both aPTT and APC resistance...
  25. pmc Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, and Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Bristol, UK
    J Invest Dermatol 133:1760-7. 2013
    ..It also indicates potential cost saving to the nonodorous and scope for personalized genetics usage in personal hygiene choices, with consequent reduction of inappropriate chemical exposures for some...
  26. pmc IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children
    Amy E Taylor
    MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK
    Biol Psychiatry 70:152-8. 2011
    ..Although there is also evidence of milder cognitive impairment in later life in carriers of the APOE ε4 allele, there have been few studies investigating the impact of APOE genotype on cognitive function in children...
  27. doi request reprint An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history
    Tom R Gaunt
    MRC Centre for Causal Analyses in Translational Epidemiology and Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Oakfield House, Bristol, United Kingdom
    Hum Mutat 31:414-20. 2010
    ..We have applied this approach to the analysis of salivary amylase (AMY1A, B, and C), CCL3L1, and SULT1A1 CNVs using published data, and present inferences about the evolutionary history of these loci based on CoNVEM results...
  28. ncbi request reprint Integrated single-label liquid-phase assay of APOE codons 112 and 158 and a lipoprotein study in British women
    Mohammad Reza Abdollahi
    Bristol Genetic Epidemiology Laboratory and Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Clin Chem 52:1420-3. 2006
    ..Most of the genotyping in these studies has been performed with gel-based methods, which have important limitations, particularly for large epidemiologic studies. We therefore developed an integrated "one-tube" liquid-phase assay...
  29. doi request reprint Very low PSA concentrations and deletions of the KLK3 gene
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE and Bristol Genetic Epidemiology Laboratories BGEL, University of Bristol, Bristol, UK
    Clin Chem 59:234-44. 2013
    ..We hypothesized that very low PSA concentrations might reflect gene-inactivating mutations in KLK3 that lead to abnormally reduced gene expression...
  30. ncbi request reprint The association of the PON1 Q192R polymorphism with complications and outcomes of pregnancy: findings from the British Women's Heart and Health cohort study
    Debbie A Lawlor
    Department of Social Medicine, University of Bristol, Bristol, UK
    Paediatr Perinat Epidemiol 20:244-50. 2006
    ..02, 1.39]. Our findings provide some further evidence to suggest that PON1 Q192R is associated with preterm birth; they invite further investigation of both maternal and fetal genotype for PON1 Q192R in relation to preterm birth...
  31. doi request reprint Sequential sentinel SNP Regional Association Plots (SSS-RAP): an approach for testing independence of SNP association signals using meta-analysis data
    Jie Zheng
    Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Bristol, UK
    Ann Hum Genet 77:67-79. 2013
    ..SSS-RAP represents a tool for testing independence of SNP association signals using meta-analysis data, and is also a convenient approach based on biological principles for fine mapping in group level summary data...
  32. pmc Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories BGEL, Department of Social Medicine, University of Bristol, Bristol, UK
    PLoS ONE 4:e5784. 2009
    ..Filaggrin is expressed in the tympanic membrane and could alter its mechanical properties, but the relationship between genetic variation in FLG and hearing has not yet been tested...
  33. doi request reprint Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip
    Tom R Gaunt
    MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, UK
    Circ Cardiovasc Genet 5:630-8. 2012
    ..Electrocardiographic traits are important, substantially heritable determinants of risk of arrhythmias and sudden cardiac death...
  34. pmc A pathway-based data integration framework for prediction of disease progression
    Jose A Seoane
    MRC Centre for Causal Analyses in Translational Epidemiology, MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Clifton BS8 2BN, UK and Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK
    Bioinformatics 30:838-45. 2014
    ..In this article, we consider a variety of learning strategies to boost prediction performance based on the use of all available data...
  35. pmc The association of C-reactive protein and CRP genotype with coronary heart disease: findings from five studies with 4,610 cases amongst 18,637 participants
    Debbie A Lawlor
    MRC Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Bristol, United Kingdom
    PLoS ONE 3:e3011. 2008
    ..Our objective was to examine the association between CRP genetic variant +1444C>T (rs1130864) and CHD risk in the largest study to date of this association...
  36. pmc Refining associations between TAS2R38 diplotypes and the 6-n-propylthiouracil (PROP) taste test: findings from the Avon Longitudinal Study of Parents and Children
    Nicholas J Timpson
    Department of Social Medicine, Bristol University, Bristol, UK
    BMC Genet 8:51. 2007
    ..Our aim was to examine the relationships between bitter tasting ability and variation at the TAS2R38 locus and to assess the role of psychosocial factors in explaining residual, within group, variation in tasting ability...
  37. ncbi request reprint Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK
    Hum Genet 122:1-21. 2007
    ..We review these genes and their associations with disease phenotypes, with special attention to metabolic risk traits...
  38. doi request reprint Analysis of potential genomic confounding in genetic association studies and an online genomic confounding browser (GCB)
    Christopher A Raistrick
    Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK
    Ann Hum Genet 75:723-31. 2011
    ..An online visualization tool (http://gcb.genes.org.uk/) was developed to plot genes by physical and genetic distance relative to a variant, along with LD data...
  39. ncbi request reprint The association of oestrogen receptor alpha-haplotypes with cardiovascular risk factors in the British Women's Heart and Health Study
    Debbie A Lawlor
    Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Rd, Bristol, BS8 2PR, UK
    Eur Heart J 27:1597-604. 2006
    ..We aimed to replicate these findings in a general population sample...