Article
Genome-wide association scan for five major dimensions of personality.
National Institute on Aging, NIH, Baltimore, MD 21224, USA.
Molecular psychiatry (impact factor:
15.05).
10/2008;
15(6):647-56.
DOI:10.1038/mp.2008.113
pp.647-56
Source: PubMed
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Article: Improved myocardial function using a Na+/H+ exchanger inhibitor during cardioplegic arrest and cardiopulmonary bypass.
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ABSTRACT: We have demonstrated that a component of post-cardiopulmonary bypass (CPB)/cardioplegic arrest (CPA) myocardial dysfunction is related to myocardial edema. Myocardial ischemia/reperfusion that occurs with CPB/CPA activates the Na(+)/H(+) exchanger to normalize intracellular pH, with intracellular Na(+) (and water) accumulation. We hypothesized that Na(+)/H(+) exchanger inhibition with a selective inhibitor (EMD 87580) would decrease myocardial edema and improve myocardial performance after CPB/CPA. Anesthetized dogs (n = 14) were instrumented with myocardial ultrasonic crystals, and left ventricular (LV) micromanometer, to study myocardial function. Myocardial tissue water (MWC) was determined using microgravimetry. Treated animals (n = 5) received EMD 87580 (5 mg/kg IV pretreatment and 10 mol/L cardioplegia); control animals (n = 9) received a saline vehicle. After baseline, hypothermic CPB/CPA was initiated for 2 h, followed by reperfusion/rewarming for 45 min and separation from CPB. Myocardial function parameters and MWC were measured at 30 min, 60 min, and 120 min after CPB. Preload recruitable stroke work did not decrease from baseline in EMD 87580-treated animals, and was significantly greater in EMD 87580-treated animals than control animals at 120 min after CPB. At a similar LV end-diastolic volume, the maximal rate of rise of LV pressure (dp/dtMAX) was significantly decreased from baseline at all time points in control animals, and unchanged in EMD 87580-treated animals. MWC increased with CPB/CPA in both groups, with no difference between groups. There was no difference in - dp/dtMAX or slope of the end-diastolic pressure-volume relationship. Na(+)/H(+) exchanger inhibition improves systolic but not diastolic function after CPB/CPA. This is not due to a reduction in MWC.Chest 02/2003; 123(1):187-94. · 5.25 Impact Factor -
Article: Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
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ABSTRACT: Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CNTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.The American Journal of Human Genetics 02/2008; 82(1):150-9. · 10.60 Impact Factor -
Article: A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.
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ABSTRACT: Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a two-stage genetic study in which genome-wide linkage and family-based association mapping was followed up by association and replication studies in an independent sample. We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism.The American Journal of Human Genetics 02/2008; 82(1):160-4. · 10.60 Impact Factor
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Keywords
362 129 single-nucleotide polymorphisms
agreeableness
BDNF
cadherin genes
confidently
DYRK1A
follow-up independent samples
genes
genetic variants
genome-wide association
larger sample sizes
loci
major life outcomes
openness
Personality traits
pervasive influences
replication samples
strong links
strong signals
variance
