Genomes and Genes
Affiliation: Peninsula Medical School
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathwaysLisette Stolk
Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands
Nat Genet 44:260-8. 2012..Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause...
- Effects of the diabetes linked TCF7L2 polymorphism in a representative older populationDavid Melzer
Peninsula Medical School, RD and E Wonford Site, Barrack Road, Exeter, EX2 5DW, UK
BMC Med 4:34. 2006..We aimed to estimate associations of the marker rs7903146 (C/T) polymorphism with fasting glucose, lipids, diabetes prevalence and complications in an older general population...
- Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations StudyAnna Murray
Penninsula Medical School, University of Exeter, Exeter, UK
Hum Mol Genet 20:186-92. 2011..The discriminative power is still limited, but as more variants are discovered they may be useful for predicting reproductive lifespan...
- Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiencyAnna Murray
University of Exeter Medical School, University of Exeter St Luke s, Exeter, UK
Genet Med 16:19-24. 2014..The prevalence of FMR1 expansion mutations in early menopause (between the ages of 40 and 45 years) has not been published...
- Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of associationAndrew R Wood
Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK
Hum Mol Genet 20:4082-92. 2011....
- Human aging is characterized by focused changes in gene expression and deregulation of alternative splicingLorna W Harries
Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK
Aging Cell 10:868-78. 2011..05]. This is supported by our observation of age-associated disruption to the balance of alternatively expressed isoforms for selected genes, suggesting that modification of mRNA processing may be a feature of human aging...
- An interleukin-18 polymorphism is associated with reduced serum concentrations and better physical functioning in older peopleTimothy M Frayling
Peninsula Medical School, Exeter, United Kingdom
J Gerontol A Biol Sci Med Sci 62:73-8. 2007..The role of common variation in the IL-18 gene on serum concentrations and functioning in old age is unknown...
- A common variant of the p16(INK4a) genetic region is associated with physical function in older peopleDavid Melzer
Peninsula Medical School, RD and E Wonford Site, Barrack Road, Exeter EX2 5DW, UK
Mech Ageing Dev 128:370-7. 2007..The mechanism involved may be via greater cellular restorative activity and reduced stem cell senescence...
- Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypesAndrew R Wood
Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK
Hum Mol Genet 24:1504-12. 2015....
- A genome-wide association study of early menopause and the combined impact of identified variantsJohn R B Perry
Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK
Hum Mol Genet 22:1465-72. 2013..The association between the combined 17 variants and the risk of EM was greater than the best validated non-genetic risk factor, smoking...
- The coronary artery disease-associated 9p21 variant and later life 20-year survival to cohort extinctionAmbarish Dutta
Epidemiology and Public Health Group, Peninsula Medical School, University of Exeter, Exeter, UK
Circ Cardiovasc Genet 4:542-8. 2011..We estimated 9p21 associations with CAD and all-cause mortality in a CAD diagnosis-free older population. We also estimated classification gains on adding the variant to the Framingham Risk Score (FRS) for CAD...
- Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failureClaire E Bennett
Peninsula Medical School, University of Exeter, Exeter EX1 2LU, UK
Hum Reprod 25:1335-8. 2010..It is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear...
- DNA mismatch repair gene MSH6 implicated in determining age at natural menopauseJohn R B Perry
University of Exeter Medical School, Exeter, UK
Hum Mol Genet 23:2490-7. 2014..This study contributes to the growing evidence that DNA repair processes play a key role in ovarian ageing and could be an important therapeutic target for infertility. ..
- Oxidative metabolism genes are not responsive to oxidative stress in rodent Beta cell linesFaer Morrison
Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter EX2 5DW, UK
Exp Diabetes Res 2012:793783. 2012..The alterations to the expression of oxidative metabolism genes previously observed in human diabetic skeletal muscle do not appear to be mirrored in rodent pancreatic beta cells...
- Meta-analysis of genome-wide association data identifies two loci influencing age at menarcheJohn R B Perry
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Nat Genet 41:648-50. 2009..The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(-9)), which also influences adult height. We provide the first evidence for common genetic variants influencing female sexual maturation...
- Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older peopleChristie Cluett
Peninsula Medical School, RD and E Wonford Site, Exeter, UK
Neurobiol Aging 31:1563-8. 2010..The mechanisms underlying the associations with cognitive impairment and LOAD require further elucidation, but both genes are interesting candidates for involvement in age-related cognitive impairment...
- A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analysesMichael N Weedon
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, EX1 2LU, UK
Am J Hum Genet 79:991-1001. 2006..In conclusion, a comprehensive analysis of common variation of the glucokinase gene shows that this is the first gene to be reproducibly associated with fasting glucose and fetal growth...
- The paraoxonase (PON1) Q192R polymorphism is not associated with poor health status or depression in the ELSA or INCHIANTI studiesNeil E Rice
Epidemiology and Public Health Group, Peninsula Medical School, Exeter, UK
Int J Epidemiol 38:1374-9. 2009..We aimed to examine associations between the PON1 Q192R polymorphism and self-reported poor health and depression in two independent population-based studies...