Genomes and Genes
Affiliation: University of Aberdeen
- Colon cancer and genetic variation in folate metabolism: the clinical bottom lineJulian Little
Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, UK
J Nutr 133:3758S-3766S. 2003....
- Epidemiology of neurodevelopmental disorders in childrenJ Little
Department of Medicine and Therapeutics, Epidemiology Group, Aberdeen, UK
Prostaglandins Leukot Essent Fatty Acids 63:11-20. 2000..The analytical epidemiology of other neurodevelopmental disorders is less well understood. Study design issues are discussed in relation to mental and behavioural disorders...
- Colorectal neoplasia and genetic polymorphisms associated with folate metabolismJ Little
Department of Medicine and Therapeutics, University of Aberdeen Medical School, Polwarth Building, Foresterhill, Aberdeen, Scotland, AB25 2ZD, UK
Eur J Cancer Prev 11:105-10. 2002
- Smoking and orofacial clefts: a United Kingdom-based case-control studyJ Little
University of Aberdeen, Aberdeen, Scotland
Cleft Palate Craniofac J 41:381-6. 2004..To investigate the association between smoking and orofacial clefts in the United Kingdom...
- Cytochrome P-450 1A1 gene polymorphisms and risk of breast cancer: a HuGE reviewL F Masson
Epidemiology Group, Department of Public Health, University of Aberdeen, Aberdeen, Scotland
Am J Epidemiol 161:901-15. 2005....
- Psychological effects of a low-grade abnormal cervical smear test result: anxiety and associated factorsN M Gray
Department of General Practice and Primary Care, Foresterhill Health Centre, University of Aberdeen and Grampian University Hospitals, Aberdeen, UK
Br J Cancer 94:1253-62. 2006....
- N-acetyltransferase polymorphisms and colorectal cancer: a HuGE reviewN Brockton
Department of Medicine and Therapeutics, University of Aberdeen, Scotland, United Kingdom
Am J Epidemiol 151:846-61. 2000....
- Folate and breast cancer: the role of polymorphisms in methylenetetrahydrofolate reductase (MTHFR)L Sharp
Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill House Annex, Foresterhill, Aberdeen AB25 2ZD, Scotland, UK
Cancer Lett 181:65-71. 2002..Patterns in risk with regard to genotype and folate combinations are broadly similar those reported for colorectal neoplasia. The roles of MTHFR and folate in breast cancer aetiology are likely to be complex...
- Global oral health inequalities: challenges in the prevention and management of orofacial clefts and potential solutionsP A Mossey
University of Dundee Dental Hospital and School, Scotland, UK
Adv Dent Res 23:247-58. 2011..The future research agenda also requires engagement with implementation science to get research findings into practice...
- Lifestyle and socio-demographic factors associated with high-risk HPV infection in UK womenS C Cotton
Department of Public Health, University of Aberdeen, Polwarth Building, Foresterhill, Aberdeen, Scotland
Br J Cancer 97:133-9. 2007..In stratified analyses, current smear status and age remained associated with hrHPV infection. Data of this type are relevant to the debate on human papillomavirus (HPV) testing in screening and development of HPV vaccination programmes...
- A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: possible role in pathogenesisJ C S Dean
University of Aberdeen, Aberdeen, Scotland, United Kingdom
Seizure 17:269-75. 2008..The MTHFR 677C>T polymorphism may be a susceptibility factor for epilepsy, and its higher frequency in women with epilepsy may contribute to the increased risk of malformation in children of women with epilepsy...
- The role of human papillomavirus testing in the management of women with low-grade abnormalities: multicentre randomised controlled trialS Cotton
Department of Public Health, University of Aberdeen, Aberdeen, UK
BJOG 117:645-59. 2010....
- A normal colposcopy examination fails to provide psychological reassurance for women who have had low-grade abnormal cervical cytologyS C Cotton
Obstetrics and Gynaecology, University of Aberdeen, Foresterhill, Aberdeen, UK
Cytopathology 26:178-87. 2015..We investigated the prevalence of adverse psychological outcomes over 30 months following a normal colposcopy...
- Management of women with low grade cytology: how reassuring is a normal colposcopy examination?M E Cruickshank
Obstetrics and Gynaecology, University of Aberdeen, Aberdeen, UK
BJOG 122:380-6. 2015..To determine the rate of cervical intraepithelial neoplasia grade 2 (CIN2+) in women with low grade cervical cytology and a normal colposcopy examination over 3 years of follow-up...
- CYP17 gene polymorphisms: prevalence and associations with hormone levels and related factors. a HuGE reviewL Sharp
Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, United Kingdom
Am J Epidemiol 160:729-40. 2004..Further investigation of relations between genotype and hormone levels, exogenous hormone use, and markers of hormonal status may advance understanding of hormonally mediated diseases...
- Impact of deprivation and rural residence on treatment of colorectal and lung cancerN C Campbell
Department of General Practice and Primary Care, Foresterhill Health Centre, Westburn Road, Aberdeen AB25 2AY, UK
Br J Cancer 87:585-90. 2002..03 to 1.64). These findings suggest that socio-economic status and rurality may have a minor impact on modalities of treatment for colorectal and lung cancer, but do not lead to delays between referral and treatment...
- Glutathione S-transferase polymorphisms and colorectal cancer: a HuGE reviewS C Cotton
Department of Medicine and Therapeutics, Faculty of Medicine and Medical Sciences, University of Aberdeen, Scotland
Am J Epidemiol 151:7-32. 2000..These finding require confirmation. Methods for determining GSTM1 and GSTT1 genotype are well established. Population testing is not currently justified...
- Long term health and neurodevelopment in children exposed to antiepileptic drugs before birthJ C S Dean
Department of Medical Genetics, Medical School, Foresterhill, Aberdeen AB25 2ZD, UK
J Med Genet 39:251-9. 2002..To investigate the frequency of neonatal and later childhood morbidity in children exposed to antiepileptic drugs in utero...
- Developing a questionnaire to measure the psychosocial impact of an abnormal cervical smear result and its subsequent management: the TOMBOLA (Trial of Management of Borderline and Other Low-grade Abnormal Smears) trialN M Gray
Department of Public Health, University of Aberdeen, Foresterhill, Aberdeen, UK
Qual Life Res 14:1553-62. 2005..The POSM will enable comparison of the alternative management policies for low-grade cervical smears in terms of the benefits (or otherwise) perceived by the women managed by these policies...
- Systematic review of cancer treatment programmes in remote and rural areasN C Campbell
Department of General Practice and Primary Care, Foresterhill Health Centre, Aberdeen, UK
Br J Cancer 80:1275-80. 1999..Tele-oncology, by which some consultations are conducted using televideo, may be an acceptable adjunct. Larger and more methodologically robust studies are justified and should be conducted...
- Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRRJohn Dean
Department of Medical Genetics, Clinical Genetics Centre, University of Aberdeen, Aberdeen, Scotland, United Kingdom
Am J Med Genet A 143:2303-11. 2007..MTR 2756A > G and MTRR 66A > G genotype frequencies in children with FACS and neurodevelopmental disorder were different from those in healthy blood donor controls...
- Colorectal cancer and genetic polymorphisms of CYP1A1, GSTM1 and GSTT1: a case-control study in the Grampian region of ScotlandJulian Little
Epidemiology Group, Department of Public Health, University of Aberdeen, Polwarth Building, Foresterhill, Aberdeen, UK
Int J Cancer 119:2155-64. 2006..There was no evidence of interaction between CYP1A1 and smoking, and no evidence of interaction between the GSTM1 or GSTT1 polymorphisms and smoking, meat intake, green leafy vegetable intake, CYP1A1 variants or each other...
- Trial of management of borderline and other low-grade abnormal smears (TOMBOLA): Trial designSeonaidh C Cotton
Department of Public Health, University of Aberdeen, Polwarth Building, Foresterhill, Aberdeen, AB25 2ZD, UK
Contemp Clin Trials 27:449-71. 2006..This paper describes the design of the trial, and discusses the rationale underlying aspects of the design and the challenges faced in designing and implementing the trial...
- Prevention of orofacial clefts: does pregnancy planning have a role?Peter A Mossey
University of Dundee, Dental School, Scotland, UK
Cleft Palate Craniofac J 44:244-50. 2007..To investigate the association between pregnancy planning and orofacial clefts in the United Kingdom...
- Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, intakes of folate and related B vitamins and colorectal cancer: a case-control study in a population with relatively low folate intakeLinda Sharp
Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, UK
Br J Nutr 99:379-89. 2008..Investigation of particular folate vitamers (for example, tetrahydrofolate, 5,10-methylenetetrahydrofolate) may help clarify carcinogenesis pathways...
- Refining the management of low-grade cervical abnormalities in the UK National Health Service and defining the potential for human papillomavirus testing: a commentary on emerging evidenceElaine Bentley
University of Nottingham Medical School at Derby, Derby City General Hospital, UK
J Low Genit Tract Dis 10:26-38. 2006
- United Kingdom cervical cancer screening and the costs of time and travelClaire Woolley
University of Nottingham, UK
Int J Technol Assess Health Care 23:232-9. 2007....
- Maternal medication use and the risk of brain tumors in the offspring: the SEARCH international case-control studyAmanda H Cardy
Department of Public Health, University of Aberdeen, Aberdeen AB25 2ZD, Scotland, United Kingdom
Int J Cancer 118:1302-8. 2006..This is the largest case-control study of CBT and maternal medications to date. Our data provide little support for an association between maternal use of medications that may form NOC and subsequent development of CBT in the offspring...
- How many genes underlie the occurrence of common complex diseases in the population?Quanhe Yang
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention CDC, Atlanta, GA 30333, USA
Int J Epidemiol 34:1129-37. 2005..It is not clear how many genes are necessary to account for an appreciable population-attributable fraction of these diseases...
- Relation of childhood brain tumors to exposure of parents and children to tobacco smoke: the SEARCH international case-control study. Surveillance of Environmental Aspects Related to Cancer in HumansGraziella Filippini
Neuroepidemiology Research Unit, Istituto Nazionale Neurologico C Besta, Milan, Italy
Int J Cancer 100:206-13. 2002..These results did not change considering the child's age at diagnosis, the histologic type of tumor or center...
- Reporting, appraising, and integrating data on genotype prevalence and gene-disease associationsJulian Little
Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, Scotland
Am J Epidemiol 156:300-10. 2002....
- Asymptomatic colorectal neoplasia and fecal characteristics: a case-control study of subjects participating in the nottingham fecal occult blood screening trialJulian Little
Epidemiology Group, Department of Medicine and Therapeutics, Aberdeen University Medical School, United Kingdom
Dis Colon Rectum 45:1233-41. 2002..We sought to test hypotheses relating to fecal bile acids, calcium, and pH in a large sample of asymptomatic subjects who had participated in fecal occult blood screening...
- Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE reviewLinda Sharp
Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, Scotland, UK
Am J Epidemiol 159:423-43. 2004..Overall, the roles of folate-pathway genes, folate, and related dietary factors in colorectal neoplasia are complex. Research priorities are suggested...
- Associations between two common variants C677T and A1298C in the methylenetetrahydrofolate reductase gene and measures of folate metabolism and DNA stability (strand breaks, misincorporated uracil, and DNA methylation status) in human lymphocytes in vivoSabrina Narayanan
Division of Cellular Integrity, Rowett Research Institute, Bucksburn, Aberdeen, United Kingdom
Cancer Epidemiol Biomarkers Prev 13:1436-43. 2004....
- The role of cytokine gene polymorphisms in colorectal cancer and their interaction with aspirin use in the northeast of ScotlandMairi Macarthur
Department of Medicine and Therapeutics, Institute of Medical Sciences, Foresterhill, Aberdeen AB25 2ZD, United Kingdom
Cancer Epidemiol Biomarkers Prev 14:1613-8. 2005..These results suggest that host genetics may play a role in predicting response to chemopreventive strategies. Confirmation of these findings in other populations is required...
- Tobacco smoking and oral clefts: a meta-analysisJulian Little
Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, Scotland
Bull World Health Organ 82:213-8. 2004..To examine the association between maternal smoking and non-syndromic orofacial clefts in infants...
- Folate intake, markers of folate status and oral clefts: is the evidence converging?Candice Y Johnson
Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, Canada
Int J Epidemiol 37:1041-58. 2008..The purpose of this systematic review and meta-analysis was to assemble evidence on the role of folate in the aetiology of cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO)...
- Folate, DNA stability and colo-rectal neoplasiaSusan J Duthie
Division of Cellular Integrity, Rowett Research Institute, Greenburn Road, Bucksburn, Aberdeen AB21 9SB, UK
Proc Nutr Soc 63:571-8. 2004..Evidence from animal and human studies is presented here in support of folate acting to maintain genomic stability through both these mechanisms...
- Low dose aspirin, COX-inhibition and chemoprevention of colorectal cancerRobert Benamouzig
Department of Gastro enterology, Hopital Avicenne, 125 rue de Stalingrad, 93009 Bobigny Cedex, France
Curr Top Med Chem 5:493-503. 2005..Four RCTs of the effect of aspirin on adenoma recurrence are available. Other trials are currently underway...
- [The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies]Erik von Elm
Institute of Social and Preventive Medicine ISPM, University of Bern, Berna, Suiza
Rev Esp Salud Publica 82:251-9. 2008..We hope that the STROBE statement will contribute to improving the quality of reporting of observational studies...
- Turning the pump handle: evolving methods for integrating the evidence on gene-disease associationJulian P T Higgins
Am J Epidemiol 166:863-6. 2007
- Genome-wide association studies for complex traits: consensus, uncertainty and challengesMark I McCarthy
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Nat Rev Genet 9:356-69. 2008....
- Assessment of cumulative evidence on genetic associations: interim guidelinesJohn P A Ioannidis
Clinical and Molecular Epidemiology Unit, University of Ioannina School of Medicine, Ioannina 45110, Greece
Int J Epidemiol 37:120-32. 2008..Future empirical research and consensus development are needed to develop an integrated model for combining epidemiological and biological evidence in the rapidly evolving field of investigation of genetic factors...
- [The Strengthening the Reporting of Observational Studies in Epidemiology [STROBE] statement: guidelines for reporting observational studies]Erik von Elm
Institute of Social and Preventive Medicine ISPM, University of Bern, Berna, Switzerland
Gac Sanit 22:144-50. 2008..We hope that the STROBE statement will contribute to improving the quality of reporting of observational studies...
- Reporting of systematic reviews: the challenge of genetic association studiesMuin J Khoury
PLoS Med 4:e211. 2007
- Daily soluble aspirin and prevention of colorectal adenoma recurrence: one-year results of the APACC trialRobert Benamouzig
Department of Gastroenterology, Avicenne Hospital, AP HP, Paris 13 University, Bobigny Cedex, France
Gastroenterology 125:328-36. 2003..Epidemiologic and experimental studies have suggested that aspirin intake reduces the risk for colorectal carcinogenesis. However, the available data are not sufficient to serve as the basis for firm recommendations...
- Mendelian randomisation: a new spin or real progress?Julian Little
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Lancet 362:930-1. 2003
- An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventionsMuin J Khoury
Office of Genomics and Disease Prevention, Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Med 6:38-47. 2004....
- The emergence of epidemiology in the genomics ageMuin J Khoury
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Int J Epidemiol 33:936-44. 2004
- The epidemiologic approach to pharmacogenomicsJulian Little
Department of Epidemiology and Community Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, Ontario K1H 8M5, Canada
Am J Pharmacogenomics 5:1-20. 2005....
- Occupational risk factors for low grade and high grade glioma: results from an international case control study of adult brain tumoursBrigitte Schlehofer
Unit of Environmental Epidemiology, German Cancer Research Centre, Heidelberg, Germany
Int J Cancer 113:116-25. 2005..Although some other point estimates were elevated, they lacked statistical significance. The results do not provide evidence of a strong association between occupational exposures and glioma development...
- CYP17 and breast cancer: no overall effect, but what about interactions?Julian Little
Canada Research Chair in Human Genome Epidemiology, Department of Epidemiology and Community Medicine, University of Ottawa, Ontario, Canada
Breast Cancer Res 7:238-42. 2005....
- A road map for efficient and reliable human genome epidemiologyJohn P A Ioannidis
Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, and Biomedical Research Institute, Foundation for Research and Technology Hellas, Ioannina 45110, Greece
Nat Genet 38:3-5. 2006..Systematic reviews will be expanded to include more meta-analyses of individual-level data and prospective meta-analyses. Field synopses will offer regularly updated overviews...
- On the synthesis and interpretation of consistent but weak gene-disease associations in the era of genome-wide association studiesMuin J Khoury
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Int J Epidemiol 36:439-45. 2007..Efforts by the Human Genome Epidemiology Network (HuGENet) are currently ongoing to streamline and operationalize these criteria for data on genetic associations with common diseases...
- Polymorphisms of adrenergic receptors and the risk of heart failureJulian Little
N Engl J Med 348:468-70; author reply 468-70. 2003