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2. Linkage and association of haplotypes at the APOA1/C3/A4/A5 gene cluster to familial combined hyperlipidemia

Author

Eichenbaum-Voline, Sophie, Olivier, Michael, Jones, Emma L., Naoumova, Rossitza P., Jones, Bethan, Gau, Brian, Seed, Mary, Betteridge, D. John, Galton, David J., Rubin, Edward M., Scott, James, Shoulders, Carol C., and Pennacchio, Len A.

Subjects
Basic biological sciences
Abstract

Combined hyperlipidemia (CHL) is a common disorder of lipid metabolism that leads to an increased risk of cardiovascular disease. The lipid profile of CHL is characterised by high levels of atherogenic lipoproteins and low levels of high-density-lipoprotein-cholesterol. Apolipoprotein (APO) A5 is a newly discovered gene involved in lipid metabolism located within 30kbp of the APOA1/C3/A4 gene cluster. Previous studies have indicated that sequence variants in this cluster are associated with increased plasma lipid levels. To establish whether variation at the APOA5 gene contributes to the transmission of CHL, we performed linkage and linkage disequilibrium (LD) tests on a large cohort of families (n=128) with familial CHL (FCHL). The linkage data produced evidence for linkage of the APOA1/C3/A4/A5 genomic interval to FCHL (NPL = 1.7, P = 0.042). The LD studies substantiated these data. Two independent rare alleles, APOA5c.56G and APOC3c.386G of this gene cluster were over-transmitted in FCHL (P = 0.004 and 0.007, respectively), and this was associated with a reduced transmission of the most common APOA1/C3/A4/A5 haplotype (frequency 0.4425) to affected subjects (P = 0.013). The APOA5c.56G allele was associated with increased plasma triglyceride levels in FCHL probands, whereas the second, and independent, APOC3c.386G allele was associated with increased plasma triglyceride levels in FCHL pedigree founders. Thus, this allele (or an allele in LD) may mark a quantitative trait associated with FCHL, as well as representing a disease susceptibility locus for the condition. This study establishes that sequence variation in the APOA1/C3/A4/A5 gene cluster contributes to the transmission of FCHL in a substantial proportion of affected families, and that these sequence variants may also contribute to the lipid abnormalities of the metabolic syndrome, which is present in up to 40 percent of persons with cardiovascular disease.

Published
2002

6. PO31 Presentation Time: 10:30 AM

Author

Sim, Van Ren, primary, Vaz, Regina Gonzalez, additional, Jones, Emma L., additional, Fadipe, Caroline, additional, Freeman, Kirsty, additional, Taylor, Benjamin, additional, and White, Ingrid, additional

Published
2022
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7. Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition

Author

Aikio, Mari, Elamaa, Harri, Vicente, David, Izzi, Valerio, Kaur, Inderjeet, Seppinen, Lotta, Speedy, Helen E., Kaminska, Dorota, Kuusisto, Sanna, Sormunen, Raija, Heljasvaara, Ritva, Jones, Emma L., Muilu, Mikko, Jauhiainen, Matti, Pihlajamäki, Jussi, Savolainen, Markku J., Shoulders, Carol C., and Pihlajaniemi, Taina

Published
2014
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8. Patterns of Organized Activity Participation in Urban, Early Adolescents: Associations with Academic Achievement, Problem Behaviors, and Perceived Adult Support

Author

Metzger, Aaron, Crean, Hugh F., and Forbes-Jones, Emma L.

Abstract

This study examines patterns of organized activity and their concurrent association with academic achievement, problem behavior, and perceived adult support in a sample of urban, early adolescent, middle school students (mean age = 13.01; N = 2,495). Cluster analyses yielded six activity profiles: an uninvolved group (n = 775, 31.1%), a multiply involved group (n = 247, 9.9%), a sports group (n = 469, 18.8%), a church group (n = 486, 19.5%), a school and community clubs group (n = 278, 11.1%), and a community clubs and sports group (n = 240, 9.6%). These profiles are differentially associated with academic achievement, problem behavior, and adult support. While some form of organized activity is generally associated with more positive outcomes, the school and community and community and sports profiles also report the highest levels of delinquency, drug use, and school suspensions. Results support the utility of using person-centered approaches to studying youth-organized activities. (Contains 1 figure, 2 tables, and 1 note.)

Published
2009
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9. Prosocial Involvement and Antisocial Peer Affiliations as Predictors of Behavior Problems in Urban Adolescents: Main Effects and Moderating Effects

Author

Kaufmann, Dagmar R., Wyman, Peter A., and Forbes-Jones, Emma L.

Abstract

This study examined the relationships between prosocial involvement (PI), antisocial peer affiliations (APA), and the degree of their overlapping or independent prediction of behavior problems in urban adolescents. Two dimensions of behavior were assessed at ages 9-11 and at ages 13-15: disruptive, aggressive conduct and number of delinquent behaviors in the past year. Participants were 167 urban boys and girls with multiple early childhood risk factors. APA predicted higher rating of aggressive conduct and more delinquent behaviors at ages 13-15 beyond the effects of earlier behavior problems. PI predicted lower rates of delinquent behavior but not aggressive conduct. A portion of the influence of PI on delinquent behavior was independent and a portion overlapping with APA. High PI moderated the positive relationship between APA and delinquent behavior, consistent with a protective effect. Interventions that promote PI are unlikely to substantially reduce associations with antisocial peers but may prove beneficial for youths with many antisocial friends by reducing contagion effects that promote delinquency. Other implications for prevention efforts are also considered. (Contains 5 tables and 1 figure.)

Published
2007
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19. Limitations of Deschooling as a Viable Model.

Author

Peretti, Peter O. and Jones, Emma L.

Abstract

Portrays deschooling philosophy as a broad conceptual educational approach encouraging more flexibility, creativity, self-reliance, and freedom of choice in learning. Limitations concern pedantic, pedagogic and nonpedagogic functions, finances, socialization, peer interaction, occupation, and social placement. Encourages proponents to generate a model complementary to practicalities and realities of present-day life. (AH)

Published
1982

24. Protecting the unprotected worker? : the re-regulation of agency work

Author

JONES, Emma L.

Subjects
Labor laws and legislation, International, Labor laws and legislation -- Great Britain, Employee leasing services -- Law and legislation
Abstract

Defence date: 15 January 2005 Examining board: Prof. Silvana Sciarra (Supervisor, European University Institute) ; Prof. Marie-Ange Moreau (European University Institute) ; Prof. Bob Hepple (University of Cambridge) ; Prof. Alan C. Neal (University of Warwick) PDF of thesis uploaded from the Library digitised archive of EUI PhD theses completed between 2013 and 2017

Published
2004

27. CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients

Author

Horswell, Stuart D., primary, Fryer, Lee G.D., additional, Hutchison, Claire E., additional, Zindrou, Dlear, additional, Speedy, Helen E., additional, Town, Margaret-M., additional, Duncan, Emma J., additional, Sivapackianathan, Rasheeta, additional, Patel, Hetal N., additional, Jones, Emma L., additional, Braithwaite, Adam, additional, Salm, Max P.A., additional, Neuwirth, Claire K.Y., additional, Potter, Elizabeth, additional, Anderson, Jonathan R., additional, Taylor, Kenneth M., additional, Seed, Mary, additional, Betteridge, D. John, additional, Crook, Martin A., additional, Wierzbicki, Anthony S., additional, Scott, James, additional, Naoumova, Rossi P., additional, and Shoulders, Carol C., additional

Published
2013
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29. Analysis of neuron-specific Enolase and S100B as biomarkers of cognitive decline following surgery in older people

Author

Jones, Emma L., Gauge, Nathan, Nilsen, Odd Bjarte, Lowery, David, Wesnes, Keith, Katsaiti, Eirini, Arden, James, Amoako, Derek, Prophet, Nicholas, Purushothaman, Balaji, Green, David, Ballard, Clive G., Jones, Emma L., Gauge, Nathan, Nilsen, Odd Bjarte, Lowery, David, Wesnes, Keith, Katsaiti, Eirini, Arden, James, Amoako, Derek, Prophet, Nicholas, Purushothaman, Balaji, Green, David, and Ballard, Clive G.

Abstract

Background/Aims: Post-operative cognitive decline is frequent in older individuals following major surgery; however, biomarkers of this decline are less clearly defined. Methods: Sixty-eight participants over the age of 60 provided blood samples at baseline and 24 h post-surgery. Cognitive decline was measured at baseline and 52 weeks post-surgery using the Cambridge Assessment for Mental Disorder in the Elderly, section B (CAMCOG) score. Plasma levels of neuron-specific enolase (NSE) and S100B were measured by ELISA. Results: Baseline NSE and the change in NSE levels between baseline and 24 h were correlated with the change in CAMCOG score between baseline and 52 weeks. Conclusion: NSE concentrations may be a useful predictor of individuals at risk of more severe long-term cognitive decline.

Published
2012

30. Optimised anaesthesia to reduce Post Operative Cognitive Decline (POCD) in older patients undergoing elective surgery, a randomized controlled trial

Author

Ballard, Clive G., Jones, Emma L., Gague, Nathan, Aarsland, Dag, Nilsen, Odd Bjarte, Saxby, Brian K., Lowery, David, Corbett, Anne, Wesnes, Keith, Katsaiti, Eirini, Arden, James, Amaoko, Derek, Prophet, Nicholas, Purushothaman, Balaji, Green, David, Ballard, Clive G., Jones, Emma L., Gague, Nathan, Aarsland, Dag, Nilsen, Odd Bjarte, Saxby, Brian K., Lowery, David, Corbett, Anne, Wesnes, Keith, Katsaiti, Eirini, Arden, James, Amaoko, Derek, Prophet, Nicholas, Purushothaman, Balaji, and Green, David

Abstract

Background The study determined the one year incidence of post operative cognitive decline (POCD) and evaluated the effectiveness of an intra-operative anaesthetic intervention in reducing post-operative cognitive impairment in older adults (over 60 years of age) undergoing elective orthopaedic or abdominal surgery. Methods and Trial Design The design was a prospective cohort study with a nested randomised, controlled intervention trial, using intra-operative BiSpectral index and cerebral oxygen saturation monitoring to enable optimisation of anaesthesia depth and cerebral oxygen saturation in older adults undergoing surgery. Results In the 52 week prospective cohort study (192 surgical patients and 138 controls), mild (?2 = 17.9 p<0.0001), moderate (?2 = 7.8 p = 0.005) and severe (?2 = 5.1 p = 0.02) POCD were all significantly higher after 52 weeks in the surgical patients than among the age matched controls. In the nested RCT, 81 patients were randomized, 73 contributing to the data analysis (34 intervention, 39 control). In the intervention group mild POCD was significantly reduced at 1, 12 and 52 weeks (Fisher’s Exact Test p = 0.018, ?2 = 5.1 p = 0.02 and ?2 = 5.9 p = 0.015), and moderate POCD was reduced at 1 and 52 weeks (?2 = 4.4 p = 0·037 and ?2 = 5.4 p = 0.02). In addition there was significant improvement in reaction time at all time-points (Vigilance Reaction Time MWU Z = ?2.1 p = 0.03, MWU Z = ?2.7 p = 0.004, MWU Z = ?3.0 p = 0.005), in MMSE at one and 52 weeks (MWU Z = ?2.9 p = 0.003, MWU Z = ?3.3 p = 0.001), and in executive function at 12 and 52 weeks (Trail Making MWU Z = ?2.4 p = .0.018, MWU Z = ?2.4 p = 0.019). Conclusion POCD is common and persistent in older adults following surgery. The results of the nested RCT indicate the potential benefits of intra-operative monitoring of anaesthetic depth and cerebral oxygenation as a pragmatic intervention to reduce post-operative cognitive impairment.

Published
2012

33. Analysis of Neuron-Specific Enolase and S100B as Biomarkers of Cognitive Decline Following Surgery in Older People

Author

Jones, Emma L., primary, Gauge, Nathan, additional, Nilsen, Odd Bjarte, additional, Lowery, David, additional, Wesnes, Keith, additional, Katsaiti, Eirini, additional, Arden, James, additional, Amoako, Derek, additional, Prophet, Nicholas, additional, Purushothaman, Balaji, additional, Green, David, additional, and Ballard, Clive, additional

Published
2012
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39. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Author

Jones, Bethan, Jones, Emma L, Bonney, Stephanie A, Patel, Hetal N, Mensenkamp, Arjen R, Eichenbaum-Voline, Sophie, Rudling, Mats, Myrdal, Urban, Annesi, Grazia, Naik, Sandhia, Meadows, Nigel, Quattrone, Aldo, Islam, Suhail A, Naoumova, Rossitza P, Angelin, Bo, Infante, Recaredo, Levy, Emile, Roy, Claude C, Freemont, Paul S, Scott, James, Shoulders, Carol C, Jones, Bethan, Jones, Emma L, Bonney, Stephanie A, Patel, Hetal N, Mensenkamp, Arjen R, Eichenbaum-Voline, Sophie, Rudling, Mats, Myrdal, Urban, Annesi, Grazia, Naik, Sandhia, Meadows, Nigel, Quattrone, Aldo, Islam, Suhail A, Naoumova, Rossitza P, Angelin, Bo, Infante, Recaredo, Levy, Emile, Roy, Claude C, Freemont, Paul S, Scott, James, and Shoulders, Carol C

Published
2003

49. Linkage and Association Between Distinct Variants of the APOA1/C3/A4/A5 Gene Cluster and Familial Combined Hyperlipidemia

Author

Eichenbaum-Voline, Sophie, primary, Olivier, Michael, additional, Jones, Emma L., additional, Naoumova, Rossitza P., additional, Jones, Bethan, additional, Gau, Brian, additional, Patel, Hetal N., additional, Seed, Mary, additional, Betteridge, D. John, additional, Galton, David J., additional, Rubin, Edward M., additional, Scott, James, additional, Shoulders, Carol C., additional, and Pennacchio, Len A., additional

Published
2004
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50. Confirmed Locus on Chromosome 11p and Candidate Loci on 6q and 8p for the Triglyceride and Cholesterol Traits of Combined Hyperlipidemia

Author

Naoumova, Rossitza P., primary, Bonney, Stephanie A., additional, Eichenbaum-Voline, Sophie, additional, Patel, Hetal N., additional, Jones, Bethan, additional, Jones, Emma L., additional, Amey, Joanna, additional, Colilla, Susan, additional, Neuwirth, Clare K.Y., additional, Allotey, Rebecca, additional, Seed, Mary, additional, Betteridge, D. John, additional, Galton, David J., additional, Cox, Nancy J., additional, Bell, Graeme I., additional, Scott, James, additional, and Shoulders, Carol C., additional

Published
2003
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