Kyriakou, Theodosios, Pontefract, David E., Viturro, Enrique, Hodgkinson, Conrad P., Laxton, Ross C., Bogari, Neda, ...
ATP-binding-cassette-transporter-A1 (ABCA1) plays a pivotal role in intracellular cholesterol removal, exerting a protective effect against atherosclerosis. ABCA1 gene severe mutations underlie...
Abdollahi, Mohammad R., Lewis, Rohan M., Gaunt, Tom R., Cumming, Debbie V.E., Rodriguez, Santiago, Rose-Zerilli, Matthew, ...
The angiotensin II type 1 receptor (AGTR1) is the main target through which angiotensin II influences cardiovascular tone, cell growth, and fluid and electrolyte balance. AGTR1 polymorphism has been...
Lips, Mirjam A., Syddall, Holly E., Gaunt, Tom R., Rodriguez, Santiago, Day, Ian N.M., Cooper, Cyrus, ...
OBJECTIVE: We sought evidence of interaction between single-nucleotide polymorphisms (SNP) in the calcium-sensing receptor (CASR) gene and early life in determination of bone mineral density (BMD)...
Lawlor, Debbie A., Day, Ian N.M., Gaunt, Tom R., Hinks, Lesley J., Timpson, Nick, Ebrahim, Shah, ...
Background: The association between the R allele of PON1 Q192R and symptoms reported by sheep dippers and Gulf War veterans has been used to suggest a biological basis for these symptoms. In the...
Rodriguez, Santiago, Gaunt, Tom R., Vorechovsky, Igor, Kralovicova, Jana, Wood, Peter J., Day, Ian N.M.
Day, Ian N.M., Rodriguez, Santiago, Kralovicova, Jana, Wood, Peter J., Vorechovsky, Igor, Gaunt, Tom R.
Abdollahi, Mohammad Reza, Guthrie, Philip A.I., Smith, George Davey, Lawlor, Debbie A., Ebrahim, Shah, Day, Ian N.M.
BACKGROUND: Apolipoprotein E (APOE) is an important element of lipid metabolism and, hence, cardiovascular disorders. APOE has 3 main allelic variants: epsilon3, epsilon4, and epsilon2. Of these,...
Huang, Shuwen, Chen, Xiao-he, Day, Ian N.M.
Large DNA banks for human epidemiological studies have become an increasingly important research tool. The power of genotype-phenotype studies is dependent both on the quality of phenotyping and of...
Gaunt, Tom R., Rodriguez, Santiago, Zapata, Carlos, Day, Ian N.M.
Background Various software tools are available for the display of pairwise linkage disequilibrium across multiple single nucleotide polymorphisms. The HapMap project also presents these graphics...
Lawlor, Debbie A., Gaunt, Tom R., Hinks, Lesley J., Smith, George Davey, Timpson, Nick, Day, Ian N.M., ...
It has been hypothesised that paraoxonase genes would be related to adverse pregnancy outcomes, via a maternal or fetal effect on placental hypoperfusion and thrombosis. To date only two studies have...
Lawlor, Debbie A., Timpson, Nick, Ebrahim, Shah, Day, Ian N.M., Smith, George Davey
Aims One previous study among women with established coronary heart disease found a gene–treatment interaction between the oestrogen receptor gene (ESR1) and hormone replacement in their...
Královiová, Jana, Gaunt, Tom R., Rodriguez, Santiago, Wood, Peter J., Day, Ian N.M., Voechovsky, Igor
Predisposition to type 1 diabetes and juvenile obesity is influenced by the susceptibility locus IDDM2 that includes the insulin gene (INS). Although the risk conferred by IDDM2 has been attributed...
Rodriguez, Santiago, Huang, Shuwen, Chen, Xiao-he, Gaunt, Tom R., Syddall, Holly E., Gilg, Julie A., ...
OBJECTIVES: Recent studies suggest an association between a microsatellite locus (TH01) located in intron 1 of the tyrosine hydroxylase gene (TH) and nicotine dependence. We aimed here to study...
Rodríguez, Santiago, Gaunt, Tom R., Dennison, Elaine, Chen, Xiao-he, Syddall, Holly E., Phillips, David I.W., ...
Interindividual variation of the IGF2-INS-TH region influences risk of a variety of diseases and complex traits. Previous studies identified a haplotype (designated IGF2-INS-TH*5 and tagged by allele...
Rodriguez, Santiago, Huang, Shuwen, Chen, Xiao-he, Gaunt, Tom R., Syddall, Holly E., Gilg, Julie A., ...
Objectives: Recent studies suggest an association between a microsatellite locus (TH01) located in intron 1 of the tyrosine hydroxylase gene (TH) and nicotine dependence. We aimed here to study...
Kralovicova, Jana, Gaunt, Tom R., Rodriguez, Santiago, Wood, Peter J., Day, Ian N.M., Vorechovsky, Igor
Predisposition to type 1 diabetes and juvenile obesity is influenced by the susceptibility locus IDDM2 that includes the insulin gene (INS). Although the risk conferred by IDDM2 has been attributed...
Rodriguez, Santiago, Gaunt, Tom R., Dennison, Elaine, Chen, Xiao-he, Syddall, Holly E., Phillips, Davide I.W., ...
Interindividual variation of the IGF2-INS-TH region influences risk of a variety of diseases and complex traits. Previous studies identified a haplotype (designated IGF2-INS-TH(*)5 and tagged by...
Huang, Shuwen, Cook, Derek G., Hinks, Lesley J., Chen, Xiao-he, Ye, Shu, Gilg, Julie A., ...
Objectives: Smoking is a major cause of death and often initiates in adolescence. Mutations in CYP2A6 slow metabolism of nicotine to cotinine. Haploinsufficiency in adults is associated with lower...
Lei, Haixin, Day, Ian N.M., Vorechovsky, Igor
Ancient Alu elements have been shown to be included in mature transcripts by point mutations that improve their 5' or 3' splice sites. We have examined requirements for exonization of a younger,...
Smith, Matt J., Alharbi, Khalid K., Chen, Xiao-he, Day, Ian N.M., Fox, Keith R.
Various physical mutation-scanning methods have been developed to avoid unnecessary resequencing of long stretches of DNA (1)(2)(3)(4)(5)(6). Protein-based mutation-scanning techniques include...
Day, Ian N.M., Aldahmesh, Mohammed A., Haddad, Lema, Alharbi, Khalid K., Chen, Xiao-he, Rassoulian, Hamid, ...
Davey Smith, George, Lawlor, Debbie A., Harbord, Roger, Timpson, Nic, Rumley, Ann, Lowe, Gordon D.O., ...
Background: C-reactive protein (CRP) has repeatedly been associated with blood pressure and prevalent and incident hypertension, but whether a causal link exists is uncertain. Methods and Results: We...
Lei, Haixin, Day, Ian N.M., Vořechovský, Igor
Ancient Alu elements have been shown to be included in mature transcripts by point mutations that improve their 5' or 3' splice sites. We have examined requirements for exonization of a younger,...
Smith, Matt J., Alharbi, Khalid K., Chen, Xiao-he, Day, Ian N.M., Fox, Keith R.
Various physical mutation-scanning methods have been developed to avoid unnecessary resequencing of long stretches of DNA (1–6). Protein-based mutation-scanning techniques include enzymatic...
Alharbi, Khalid K., Aldahmesh, Mohammed A., Spanakis, Emmanuel, Haddad, Lema, Whittall, Roslyn A., Chen, Xiao-he, ...
We have developed a mutation-scanning approach suitable for whole population screening for unknown mutations. The method, meltMADGE, combines thermal ramp electrophoresis with MADGE to achieve...
Alharbi, Khalid K., Aldahmesh, Mohammed A, Spanakis, Emmanuel, Haddad, Lema, Whittall, Roslyn A, Chen, Xiao-he, ...
We have developed a mutation-scanning approach suitable for whole population screening for unknown mutations. The method, meltMADGE, combines thermal ramp electrophoresis with MADGE to achieve...
Day, Ian N. M., Chen, Xiao-He, Gaunt, Tom R., King, Tabitha H. T., Voropanov, Anca, Ye, Shu, ...
Low rates of fetal and infant growth are associated with the metabolic syndrome and cardiovascular disease in later life. We investigated common genetic variation in the GH-CSH gene cluster on...
Chen, Xiao-He, Rodriguez, Santiago, Hawe, Emma, Talmud, Philippa J., Miller, George J., Underhill, Peter, ...
OBJECTIVE: Cohort and case-control genetic association studies offer the greatest power to detect small genotypic influences on disease phenotypes, relative to family-based designs. However, genetic...
Lawlor, Debbie A., Day, Ian N.M., Gaunt, Tom R., Hinks, Lesley J., Briggs, Patricia J., Kiessling, Matthew, ...
Background There have been inconsistent results from case-control studies assessing the association of the PON1 Q192R polymorphism with coronary heart disease (CHD). Most studies have included...
Rodriguez, Santiago, Chen, Xiao-he, Day, Ian N.M.
Polymorphic dinucleotide repeat loci (microsatellite markers) are found in varying abundance throughout the genomes of most organisms. They have been extensively used for genetic studies, but...
Lawlor, Debbie A., Day, Ian N.M., Gaunt, Tom R., Hinks, Lesley J., Briggs, Patricia J., Kiessling, Matthew, ...
Background There have been inconsistent results from case-control studies assessing the association of the PON1 Q192R polymorphism with coronary heart disease (CHD). Most studies have included...
McCulley, Michelle C., Day, Ian N.M., Holmes, Clive
Depressive symptoms have been associated with raised interleukin 1-β (IL-1 β) plasma levels. The presence of behavioral and psychological symptoms of dementia (BPSD) in Alzheimer's disease,...
Beyzade, Seyyare, Zhang, Shaoli, Wong, Yuk-ki, Day, Ian N. M., Eriksson, Per, Ye, Shu
OBJECTIVES: The aim of this study was to assess matrix metalloproteinase-3 (MMP3) gene variation in relation to the degree of coronary atherosclerosis and risk of myocardial infarction (MI) in...
Gaunt, Tom R., Hinks, Lesley J., Rassoulian, Hamid, Day, Ian N.M.
Electrophoresis continues to be a mainstay in molecular genetic laboratories for checking, sizing and separating both PCR products, nucleic acids derived from in vivo or in vitro sources and nucleic...
Gaunt, Tom R., Hinks, Lesley J., Rassoulian, Hamid, Day, Ian N.M.
Electrophoresis continues to be a mainstay in molecular genetic laboratories for checking, sizing and separating both PCR products, nucleic acids derived from in vivo or in vitro sources and nucleic...
Beyzade, Seyyare, Zhang, Shaoli, Wong, Yuk-ki, Day, Ian N.M., Eriksson, Per, Ye, Shu
Objectives The aim of this study was to assess matrix metallloproteinase-3 (MMP3) gene variation in relation to the degree of coronary atherosclerosis and risk of myocardial infarction (MI) in...
Molecular pathogenesis of subarachnoid haemorrhage (2003)
Zhang, Baiping, Fugleholm, Kaare, Day, Lorna B., Ye, Shu, Weller, Roy O., Day, Ian N.M.
Subarachnoid haemorrhage (SAH) results from leakage of blood into the subarachnoid space and carries high morbidity and mortality. However, there is limited understanding to date, of the risk...
Insulin-like growth factor-I genotype and birthweight (2002)
Day, Ian N.M., King, Tabitha H.T., Chen, Xiao-he, Voropanov, Anca M., Ye, Shu, Syddall, Holly E., ...
Microplate array diagonal gel electrophoresis for cohort studies of microsatellite loci (2002)
Chen, Xiao-He, O'Dell, Sandra D., Day, Ian N.M.
After PCR amplification, we have achieved precise sizing of trinucleotide and tetranucleotide microsatellite alleles on 96-well open-faced polyacrylamide microplate array diagonal gel electrophoresis...
Age-associated changes in methylation of the insulin-like growth factor II (IGF-II) gene (2002)
Hoffman, Elizabeth G., Day, Ian N. M., Ganderton, Rosalind H.
During normal human ageing, changes in DNA methylation are seen, with global hypomethylation occurring in tandem with gene and tissue specific hypermethylation. This epigenetic change is thought to...
Zhang, Junlong, Day, Ian N.M., Byrne, Christopher D.
There is a great demand for technologies to simultaneously measure mRNA levels from multiple genes. Here we report a new quantitative competitive PCR technology and demonstrate simultaneous...
O'Dell, Sandra D., Syddall, Holly E., Sayer, Avan Aihie, Cooper, Cyrus, Fall, Caroline H.D., Dennison, Elaine M., ...
Ciliary neurotrophic factor (CNTF) administration reduces weight in leptin-resistant mice via the signalling pathway normally activated by leptin. A G>A null mutation in the CNTF gene results in...
Zhang, Junlong, Day, Ian N.M., Byrne, Christopher D.
There is a great demand for technologies to simultaneously measure mRNA levels from multiple genes. Here we report a new quantitative competitive PCR technology and demonstrate simultaneous...
Polymorphism of the IGF2 gene, birth weight and grip strength in adult men (2002)
Aihie-Sayer, Avan, Syddall, Holly, O'Dell, Sandra D., Chen, Xiao-He, Briggs, Patricia J., Briggs, R., ...
BACKGROUND: Grip strength is a simple measure of skeletal muscle function but a powerful predictor of disability, morbidity and mortality. Recent evidence has shown that prenatal and infant growth...
Zhang, Junlong, Day, Ian N.M., Byrne, Christopher D.
There is a great demand for technologies to simultaneously measure mRNA levels from multiple genes. Here we report a new quantitative competitive PCR technology and demonstrate simultaneous...
Molecular genetic epidemiology: a laboratory perspective (2002)
This volume describes high-throughput approaches to a series of robust, established methodologies in molecular genetic studies of population samples. Such developments have been essential not only to...
Science, medicine, and the future: Genetics and cardiovascular risk (2001)
Day, Ian N. M., Wilson, David I.
Cardiovascular disease is the commonest cause of death in the Western world, and congenital heart disease affects almost 1% of liveborn infants. Both diseases have substantial genetic components. The...
Zhang, Baiping, Dhillon, Sahar, Geary, Irene, Howell, W Martin, Iannotti, Fausto, Day, Ian N.M, ...
BACKGROUND AND PURPOSE: Intracranial aneurysm, which underlies the vast majority of subarachnoid hemorrhage incidences, has a multifactorial etiology, and the importance of genetic factors is...
Gaunt, Tom R., Cooper, Jacqueline A., Miller, George J., Day, Ian N.M., O'Dell, Sandra D.
We previously demonstrated an association between the insulin-like growth factor 2 (IGF2) gene 3'-untranslated region (3'-UTR) ApaI polymorphism and body mass index (BMI) in over 2500 middle-aged...
Birthweight, vitamin D receptor genotype and the programming of osteoporosis (2001)
Dennison, Elaine M., Arden, Nigel K., Keen, Richard W., Syddall, Holly, Day, Ian N. M., Spector, Timothy D., ...
Studies of the association between polymorphisms of the gene for the vitamin D receptor (VDR) and adult bone mass have been inconsistent, pointing to the possibility that gene--environment...
Microarray analysis of nicotine-induced changes in gene expression in endothelial cells (2001)
Zhang, Shaoli, Day, Ian N.M., Ye, Shu
Cigarette smoking causes vascular endothelial dysfunction and is a major risk factor for cardiovascular diseases. Nicotine, a major constituent of cigarette smoke, has been shown to alter gene...
Science, medicine, and the future: genetics and cardiovascular risk (2001)
Day, Ian N.M., Wilson, David I.
Cardiovascular disease is the commonest cause of death in the Western world, and congenital heart disease affects almost 1% of liveborn infants. Both diseases have substantial genetic components. The...
Epidemiology and the genetic basis of disease (2001)
Day, Ian N.M., Gu, Dongfeng, Ganderton, Rosalind H., Spanakis, Emmanuel, Ye, Shu
Birthweight, vitamin D receptor genotype and the programming of osteoporosis (2001)
Dennison, Elaine M., Arden, Nigel K., Keen, Richard W., Syddall, Holly, Day, Ian N.M., Spector, Timothy D., ...
Studies of the association between polymorphisms of the gene for the vitamin D receptor (VDR) and adult bone mass have been inconsistent, pointing to the possibility that gene–environment...
Gaunt, Tom R., Cooper, Jacqueline A., Miller, George J., Day, Ian N.M., O'Dell, Sandra
We previously demonstrated an association between the insulin-like growth factor 2 (IGF2) gene 3'-untranslated region (3'-UTR) ApaI polymorphism and body mass index (BMI) in over 2500 middle-aged...
An efficient procedure for genotyping single nucleotide polymorphisms (2001)
Ye, Shu, Dhillon, Sahar, Ke, Xiayi, Collins, Andrew R., Day, Ian N.M.
Analysis of single nucleotide polymorphisms (SNPs) has been and will be increasingly utilized in various genetic disciplines, particularly in studying genetic determinants of complex diseases. Such...
Zhang, Baiping, Dhillon, Sahar, Geary, Irene, Howell, W. Martin, Iannotti, Fausto, Day, Ian N.M., ...
Background and Purpose: Intracranial aneurysm, which underlies the vast majority of subarachnoid hemorrhage incidences, has a multifactorial etiology, and the importance of genetic factors is...