Genetic architecture of ambulatory blood pressure in the general population insights from cardiovascular gene-centric array
- Authors: Tomaszewski, Maciej , Debiec, Radoslaw , Braund, Peter , Nelson, Christopher , Hardwick, Robert , Christofidou, Paraskevi , Denniff, Matthew , Codd, Veryan , Rafelt, Suzanne , van der Harst, Pim , Waterworth, Dawn , Song, Kijoung , Vollenweider, Peter , Waeber, Gerard , Zukowska-Szczechowska, Ewa , Burton, Paul , Mooser, Vincent , Charchar, Fadi , Thompson, John , Tobin, Martin , Samani, Nilesh
- Date: 2010
- Type: Text , Journal article
- Relation: Hypertension Vol. 56, no. 6 (2010), p. 1069-U146
- Full Text: false
- Reviewed:
- Description: Genetic determinants of blood pressure are poorly defined. We undertook a large-scale, gene-centric analysis to identify loci and pathways associated with ambulatory systolic and diastolic blood pressure. We measured 24-hour ambulatory blood pressure in 2020 individuals from 520 white European nuclear families (the Genetic Regulation of Arterial Pressure of Humans in the Community Study) and genotyped their DNA using the Illumina HumanCVD BeadChip array, which contains approximate to 50 000 single nucleotide polymorphisms in >2000 cardiovascular candidate loci. We found a strong association between rs13306560 polymorphism in the promoter region of MTHFR and CLCN6 and mean 24-hour diastolic blood pressure; each minor allele copy of rs13306560 was associated with 2.6 mm Hg lower mean 24-hour diastolic blood pressure (P=1.2 x 10(-8)). rs13306560 was also associated with clinic diastolic blood pressure in a combined analysis of 8129 subjects from the Genetic Regulation of Arterial Pressure of Humans in the Community Study, the CoLaus Study, and the Silesian Cardiovascular Study (P=5.4 x 10(-6)). Additional analysis of associations between variants in gene ontology-defined pathways and mean 24-hour blood pressure in the Genetic Regulation of Arterial Pressure of Humans in the Community Study showed that cell survival control signaling cascades could play a role in blood pressure regulation. There was also a significant overrepresentation of rare variants (minor allele frequency: <0.05) among polymorphisms showing at least nominal association with mean 24-hour blood pressure indicating that a considerable proportion of its heritability may be explained by uncommon alleles. Through a large-scale gene-centric analysis of ambulatory blood pressure, we identified an association of a novel variant at the MTHFR/CLNC6 locus with diastolic blood pressure and provided new insights into the genetic architecture of blood pressure.
Sport event legacy: A systematic quantitative review of literature
- Authors: Thomson, Alana , Cuskelly, Graham , Toohey, Kristine , Kennelly, Millicent , Burton, Paul , Fredline, Liz
- Date: 2019
- Type: Text , Journal article
- Relation: Sport management review Vol. 22, no. 3 (2019), p. 295-321
- Full Text: false
- Reviewed:
- Description: •Sport event legacy is a complex and contested phenomenon.•Articles from the UK, USA, Canada, Australia dominate the articles considered.•Research has grown since 2000, with a rapid increase from 2007 onwards.•The need for legacy planning is emphasised in over half of the studies considered.•Researchers should develop long-term, transdisciplinary research agendas featuring empirical and mixed method designs. The study of sport event legacies has grown rapidly since 2000 across a number of disciplines related to planning and hosting large-scale sport events. However, to date, there have been limited attempts to systematically review and synthesise extant sport event legacy research, reflect on existing knowledge, and identify key gaps for future research. In this article, the authors reviewed the state of sport event legacy research through a systematic quantitative review of 305 original, peer-reviewed research articles published in English language journals between 2000 and 2016. Results demonstrate that a small group of academics concentrated in particular countries are driving the publication of studies on sport event legacy in predominately specialised sport and event journals. There is a clear research interest in legacy outcomes realised through hosting sport events in areas of public life, politics, and culture, as well as mass participation sport. The authors identify key areas for future research and make recommendations for empirical research designs to progress scholarship and better inform policy and practice pertaining to sport event legacy.