title: Association of TLL1 gene polymorphism (rs1503298, T > C) with coronary heart disease in PREDICT, UDACS and ED cohorts.
abstract: OBJECTIVE
  To determine the sequence variant of TLL1 gene (rs1503298, T > C) in three British cohorts (PREDICT, UDACS and ED) of patients with type-2 Diabetes mellitus (T2DM) in order to assess its association with coronary heart disease (CHD).
  
  
  METHODS
  Analytical study.
  
  
  METHODS
  UCL, London, UK. Participants were genotyped in 2011-2012 for TLL1 SNP. Samples and related information were previously collected in 2001-2003 for PREDICT, and in 2001-2002 for UDACS and ED groups.
  
  
  METHODS
  Patients included in PREDICT (n=600), UDACS (n=1020) and ED (n=1240) had Diabetes. TLL1 SNP (rs1503298, T > C) was genotyped using TaqMan technology. Allele frequencies were compared using c2 test, and tested for Hardy-Weinberg equilibrium. The risk of disease was assessed from Odds ratios (OR) with 95% Confidence Intervals (95% CI). Moreover, for the PREDICT cohort, the SNP association was tested with Coronary Artery Calcification (CAC) scores.
  
  
  RESULTS
  No significant association was found for this SNP with CHD or CAC scores in these cohorts.
  
  
  CONCLUSIONS
  This SNP could not be confirmed as a risk factor for CHD in T2DM patients. However, the low power of thesmall sample size available is a limitation to the modest effect on risk. Further studies in larger samples would be useful.
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK,Diabetes and Cardio-metabolic Disorders Laboratory, Human Molecular Genetics and Metabolic Disorders Group, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
authors.forename: Maryam
authors.initials: M
authors.lastname: Zain
authors.affiliation: Diabetes and Cardio-metabolic Disorders Laboratory, Human Molecular Genetics and Metabolic Disorders Group, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
authors.forename: Fazli Rabbi
authors.initials: FR
authors.lastname: Awan
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK.
authors.forename: Jackie A
authors.initials: JA
authors.lastname: Cooper
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK.
authors.forename: Ka Wah
authors.initials: KW
authors.lastname: Li
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK.
authors.forename: Jutta
authors.initials: J
authors.lastname: Palmen
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK.
authors.forename: Jay
authors.initials: J
authors.lastname: Acharya
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK.
authors.forename: Philip
authors.initials: P
authors.lastname: Howard
authors.affiliation: Diabetes and Cardio-metabolic Disorders Laboratory, Human Molecular Genetics and Metabolic Disorders Group, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
authors.forename: Shahid M
authors.initials: SM
authors.lastname: Baig
authors.affiliation: Endocrinology and Metabolic Medicine, Imperial College London, St Mary's Hospital, London, UK.
authors.forename: Robert S
authors.initials: RS
authors.lastname: Elkeles
authors.affiliation: Diabetes Research Group, Institute of Life Sciences, College of Medicine, Swansea University, Swansea, UK.
authors.forename: Jeffrey W
authors.initials: JW
authors.lastname: Stephens
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Ireland
authors.affiliation: University College London, Faculty of Population Health Sciences, Institute of Cardiovascular Science, Centre for Cardiovascular Genetics, London, UK.
authors.forename: Steve E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D000368:Aged; D000483:Alleles; D015331:Cohort Studies; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics* / Q000706:statistics & numerical data; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D019914:Taq Polymerase; D055394:Tolloid-Like Metalloproteinases / Q000235:genetics*; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D019914:Taq Polymerase; D055394:Tolloid-Like Metalloproteinases; C484478:TLL1 protein, human