scholarly journals Functional Genetic Variation in the 3′-UTRNTRK2 is Associated with Risk of Ischemic Stroke

2020 ◽  
Vol Volume 13 ◽  
pp. 577-584
Author(s):  
Jiajia Shi ◽  
Ying Sun ◽  
Jiajia Hua
Keyword(s):  
Genetic Variation ◽  
Ischemic Stroke ◽  
Functional Genetic Variation

scholarly journals Genetic variation at the IGF1 locus shows association with post-stroke outcome and to circulating IGF1

2013 ◽  
Vol 169 (6) ◽  
pp. 759-765 ◽  
Author(s):  
N David Åberg ◽  
Sandra Olsson ◽  
Daniel Åberg ◽  
Katarina Jood ◽  
Tara M Stanne ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Ischemic Stroke ◽  
Stroke Severity ◽  
Stroke Outcome ◽  
Nucleotide Polymorphisms ◽  
Post Stroke ◽  
Index Stroke ◽  
Genetic Impact ◽  
Major Allele ◽  
Community Controls

ObjectiveIn humans, serum IGF1 (s-IGF1) is associated with outcome after ischemic stroke (IS). Therefore variation at the IGF1 locus could also associate with both IS and s-IGF1. We investigated whether genetic variation at the IGF1 locus is associated with i) s-IGF1, ii) IS occurrence, iii) IS severity, and iv) post-stroke outcome.Design/methodsPatients (n=844; 66% males, mean age 56 years) and community controls (n=668) were included from the Sahlgrenska Academy Study on Ischemic Stroke (SAHLSIS). Post-stroke outcome was evaluated with the modified Rankin Scale at 3 and 24 months after index stroke, and baseline stroke severity with the Scandinavian Stroke Scale. s-IGF1 was determined in patients and after random selection in 40 of the controls.ResultsEleven single nucleotide polymorphisms (SNPs) were selected in the IGF1 gene. In healthy controls the major allele of rs7136446 was associated with higher s-IGF1, whereas in patients no such association was found. No SNP was associated with IS, nor with stroke severity. After multivariate correction for presence of diabetes, smoking, and hypertension, the major allele of rs7136446 was associated with favorable functional outcome 24-months post-stroke (odds ratio 1.46; 95% CI 1.09–1.96).ConclusionVariation in rs7136446 of the IGF1 gene associates with post-stroke outcome in relatively young IS patients. Also, rs7136446 associates with s-IGF1 in controls but not in IS, which indicates that IS perturbs a normal genetic impact on s-IGF1 levels.

scholarly journals Functional genetic variation in the Rev-Erbαpathway and lithium response in the treatment of bipolar disorder

2011 ◽  
Vol 10 (8) ◽  
pp. 852-861 ◽  
Author(s):  
M. J. McCarthy ◽  
C. M. Nievergelt ◽  
T. Shekhtman ◽  
D. F. Kripke ◽  
D. K. Welsh ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Genetic Variation ◽  
Functional Genetic Variation ◽  
Lithium Response

scholarly journals The crucial role of genome-wide genetic variation in conservation

2021 ◽  
Vol 118 (48) ◽  
pp. e2104642118
Author(s):  
Marty Kardos ◽  
Ellie E. Armstrong ◽  
Sarah W. Fitzpatrick ◽  
Samantha Hauser ◽  
Philip W. Hedrick ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Environmental Changes ◽  
Population Viability ◽  
Adaptive Potential ◽  
Biodiversity Crisis ◽  
Genome Wide ◽  
Simulation Based ◽  
Functional Genetic Variation

The unprecedented rate of extinction calls for efficient use of genetics to help conserve biodiversity. Several recent genomic and simulation-based studies have argued that the field of conservation biology has placed too much focus on conserving genome-wide genetic variation, and that the field should instead focus on managing the subset of functional genetic variation that is thought to affect fitness. Here, we critically evaluate the feasibility and likely benefits of this approach in conservation. We find that population genetics theory and empirical results show that conserving genome-wide genetic variation is generally the best approach to prevent inbreeding depression and loss of adaptive potential from driving populations toward extinction. Focusing conservation efforts on presumably functional genetic variation will only be feasible occasionally, often misleading, and counterproductive when prioritized over genome-wide genetic variation. Given the increasing rate of habitat loss and other environmental changes, failure to recognize the detrimental effects of lost genome-wide genetic variation on long-term population viability will only worsen the biodiversity crisis.

scholarly journals Functional Genetic Variation in NFKBIA and Susceptibility to Childhood Asthma, Bronchiolitis, and Bronchopulmonary Dysplasia

2013 ◽  
Vol 190 (8) ◽  
pp. 3949-3958 ◽  
Author(s):  
Salman Ali ◽  
Aaron F. Hirschfeld ◽  
Matthew L. Mayer ◽  
Edgardo S. Fortuno ◽  
Nathan Corbett ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Bronchopulmonary Dysplasia ◽  
Childhood Asthma ◽  
Functional Genetic Variation

scholarly journals Natural selection and functional genetic variation in the p53 pathway

2011 ◽  
Vol 20 (8) ◽  
pp. 1502-1508 ◽  
Author(s):  
Lara Sucheston ◽  
David B. Witonsky ◽  
Darcie Hastings ◽  
Ozlem Yildiz ◽  
Vanessa J. Clark ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Natural Selection ◽  
P53 Pathway ◽  
Functional Genetic Variation

No evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke

2011 ◽  
Vol 258 (10) ◽  
pp. 1885-1887 ◽  
Author(s):  
A. Tjärnlund-Wolf ◽  
S. Olsson ◽  
K. Jood ◽  
C. Blomstrand ◽  
C. Jern
Keyword(s):  
Genetic Variation ◽  
Ischemic Stroke

scholarly journals Genetic Variation in the Lymphotoxin-Alpha Pathway and the Risk of Ischemic Stroke in European Populations

Stroke ◽  
2009 ◽  
Vol 40 (3) ◽  
pp. 970-972 ◽  
Author(s):  
Tobias Freilinger ◽  
Steve Bevan ◽  
Stephan Ripke ◽  
Andreas Gschwendtner ◽  
Peter Lichtner ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Ischemic Stroke ◽  
Lymphotoxin Alpha ◽  
European Populations
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