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6 results

  • A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD

  • Constantine D. Mavroudis, Daniel Seung Kim, Nancy Burnham, Alexandra H. Morss, Jerry H. Kim, Amber A. Burt, David R. Crosslin, Donna M. McDonald-McGinn, Elaine H. Zackai, Meryl S. Cohen, Susan C. Nicolson, Thomas L. Spray, Ian B. Stanaway, Deborah A. Nickerson, Mark W. Russell, Hakon Hakonarson, Gail P. Jarvik, J. William Gaynor
  • Journal:
    Cardiology in the Young / Volume 28 / Issue 1 / January 2018
    Published online by Cambridge University Press:
    20 September 2017, pp. 39-45
  • Background

    We have previously shown that the minor alleles of vascular endothelial growth factor A (VEGFA) single-nucleotide polymorphism rs833069 and superoxide dismutase 2 (SOD2) single-nucleotide polymorphism rs2758331 are both associated with improved transplant-free survival after surgery for CHD in infants, but the underlying mechanisms are unknown. We hypothesised that one or both of these minor alleles are associated with better systemic ventricular function, resulting in improved survival.

    Methods

    This study is a follow-up analysis of 422 non-syndromic CHD patients who underwent neonatal cardiac surgery with cardiopulmonary bypass. Echocardiographic reports were reviewed. Systemic ventricular function was subjectively categorised as normal, or as mildly, moderately, or severely depressed. The change in function was calculated as the change from the preoperative study to the last available study. Stepwise linear regression, adjusting for covariates, was performed for the outcome of change in ventricular function. Model comparison was performed using Akaike’s information criterion. Only variables that improved the model prediction of change in systemic ventricular function were retained in the final model.

    Results

    Genetic and echocardiographic data were available for 335/422 subjects (79%). Of them, 33 (9.9%) developed worse systemic ventricular function during a mean follow-up period of 13.5 years. After covariate adjustment, the presence of the VEGFA minor allele was associated with preserved ventricular function (p=0.011).

    Conclusions

    These data support the hypothesis that the mechanism by which the VEGFA single-nucleotide polymorphism rs833069 minor allele improves survival may be the preservation of ventricular function. Further studies are needed to validate this genotype–phenotype association and to determine whether this mechanism is related to increased vascular endothelial growth factor production.

  • Chapter 3 - Genome-wide association study (GWAS) approaches to sleep phenotypes

  • from Section 1 - Generalprinciples of genetics and genomics
  • Edited by Paul Shaw, Mehdi Tafti, Michael J. Thorpy
  • Book:
    The Genetic Basis of Sleep and Sleep Disorders
    Published online:
    05 November 2013
    Print publication:
    24 October 2013, pp 22-32

  • Summary

    Restless legs syndrome (RLS) is very common in older subjects, particularly in Western countries such as the United States. RLS can lead to severe insomnia and subsequent daytime hypersomnia. RLS resulted in the first successful results from a genome-wide association study (GWAS) in the field of sleep disorders. Insomnia can present as a primary disorder or as a symptom of comorbid conditions such as chronic pain. Comorbid insomnia is more common in older adults, which in part is a reflection of higher prevalence of comorbid medical conditions and significant progress has been made in identifying the genetic basis of some forms of sleep disorder such as RLS and narcolepsy, the genetic basis of obstructive sleep apnea (OSA) remains to be determined. In the sleep disorders, progress has been made in understanding the etiology of narcolepsy and RLS largely through the application of genome-wide association studies to the phenotypes.

  • Chapter 15 - Attention-deficit hyperactivity disorder

  • Edited by John I. Nurnberger, Jr, Wade Berrettini, University of Pennsylvania School of Medicine
  • Book:
    Principles of Psychiatric Genetics
    Published online:
    05 October 2012
    Print publication:
    13 September 2012, pp 168-182

  • Summary

    This chapter discusses the diagnosis and epidemiology of panic disorder (PD). Genetic studies, while instrumental, cannot alone address the etiological complexities of most psychiatric disorders. The chapter turns to two integrative approaches that combine genetics with other clinical or biological methods to target the underlying mechanisms. First, it discusses exploiting the relationship between psychiatric and non-psychiatric medical manifestations (the expanded spectrum approach). This approach is particularly relevant to PD, where the panic attacks are accompanied by a range of physiological responses that may be central to the etiology. Second, the chapter describes neurobiological phenotypes, and in particular, on using measures of brain structure and function to identify genetic variation, and studies the mechanisms via which genes can impact behavior. The chapter concludes with an overview of imaging genetic studies of PD, and particularly, of how data from imaging studies can be used to enhance the tractability of genetic targets.