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ALOX5AP gene and the PDE4D gene in a central European population of stroke patients.

https://arctichealth.org/en/permalink/ahliterature176042
Source
Stroke. 2005 Apr;36(4):731-6
Publication Type
Article
Date
Apr-2005
Author
Elin Lõhmussaar
Andreas Gschwendtner
Jakob C Mueller
Tõnis Org
Erich Wichmann
Gerhard Hamann
Thomas Meitinger
Martin Dichgans
Author Affiliation
Institutes of Human Genetics, GSF-National Research Institute for Environment and Health, Neuherberg, Germany.
Source
Stroke. 2005 Apr;36(4):731-6
Date
Apr-2005
Language
English
Publication Type
Article
Keywords
3',5'-Cyclic-AMP Phosphodiesterases - genetics
5-Lipoxygenase-Activating Proteins
Aged
Alleles
Carrier Proteins - genetics
Case-Control Studies
Cyclic Nucleotide Phosphodiesterases, Type 3
Cyclic Nucleotide Phosphodiesterases, Type 4
Edetic Acid - chemistry
Europe, Eastern
Female
Gene Frequency
Genetic markers
Genotype
Haplotypes
Humans
Iceland
Ischemia
Linkage Disequilibrium
Magnetic Resonance Imaging
Male
Membrane Proteins - genetics
Microsatellite Repeats
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide
Regression Analysis
Risk
Risk factors
Sex Factors
Stroke - genetics
Abstract
Recent evidence has implicated the genes for 5-lipoxygenase activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) as susceptibility genes for stroke in the Icelandic population. The aim of the present study was to explore the role of these genes in a central European population of stroke patients.
A total of 639 consecutive stroke patients and 736 unrelated population-based controls that had been matched for age and sex were examined using a case-control design. Twenty-two single-nucleotide polymorphisms (SNPs) covering ALOX5AP were genotyped. For PDE4D, microsatellite AC008818-1 and 12 SNPs, which tag all common haplotypes in previously identified linkage disequilibrium (LD) blocks, were analyzed.
A nominally significant association with stroke was observed with several SNPs from ALOX5AP, including SNP SG13S114, which had been part of the Icelandic at-risk haplotype. Associations were stronger in males than in females, with SG13S114 (odds ratio, 1.24; 95% CI, 1.04 to 1.55; P=0.017) and SG13S100 (odds ratio, 1.26; 95% CI 1.03 to 1.54; P=0.024) showing the strongest associations. No significant associations were detected with single markers and haplotypes in PDE4D. The frequencies of single-marker alleles and haplotypes differed largely from those in the Icelandic population.
The present study suggests that sequence variants in the ALOX5AP gene are significantly associated with stroke, particularly in males. Variants in the PDE4D gene are not a major risk factor for stroke in individuals from central Europe. Population differences in allele and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.
PubMed ID
15731479 View in PubMed
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Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

https://arctichealth.org/en/permalink/ahliterature261062
Source
Nat Genet. 2015 Jan;47(1):78-83
Publication Type
Article
Date
Jan-2015
Author
Stéphanie Debette
Yoichiro Kamatani
Tiina M Metso
Manja Kloss
Ganesh Chauhan
Stefan T Engelter
Alessandro Pezzini
Vincent Thijs
Hugh S Markus
Martin Dichgans
Christiane Wolf
Ralf Dittrich
Emmanuel Touzé
Andrew M Southerland
Yves Samson
Shérine Abboud
Yannick Béjot
Valeria Caso
Anna Bersano
Andreas Gschwendtner
Maria Sessa
John Cole
Chantal Lamy
Elisabeth Medeiros
Simone Beretta
Leo H Bonati
Armin J Grau
Patrik Michel
Jennifer J Majersik
Pankaj Sharma
Ludmila Kalashnikova
Maria Nazarova
Larisa Dobrynina
Eva Bartels
Benoit Guillon
Evita G van den Herik
Israel Fernandez-Cadenas
Katarina Jood
Michael A Nalls
Frank-Erik De Leeuw
Christina Jern
Yu-Ching Cheng
Inge Werner
Antti J Metso
Christoph Lichy
Philippe A Lyrer
Tobias Brandt
Giorgio B Boncoraglio
Heinz-Erich Wichmann
Christian Gieger
Andrew D Johnson
Thomas Böttcher
Maurizio Castellano
Dominique Arveiler
M Arfan Ikram
Monique M B Breteler
Alessandro Padovani
James F Meschia
Gregor Kuhlenbäumer
Arndt Rolfs
Bradford B Worrall
Erich-Bernd Ringelstein
Diana Zelenika
Turgut Tatlisumak
Mark Lathrop
Didier Leys
Philippe Amouyel
Jean Dallongeville
Source
Nat Genet. 2015 Jan;47(1):78-83
Date
Jan-2015
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Brain Ischemia - epidemiology - genetics
Carotid Artery, Internal, Dissection - epidemiology - genetics
Female
Finland - epidemiology
Follow-Up Studies
Genetic Pleiotropy
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Hypercholesterolemia - epidemiology
Hypertension - epidemiology
Male
Microfilament Proteins - genetics - physiology
Middle Aged
Migraine Disorders - epidemiology
Myocardial Infarction - epidemiology
Obesity - epidemiology
Odds Ratio
Polymorphism, Single Nucleotide
Risk factors
Vertebral Artery Dissection - epidemiology - genetics
Abstract
Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year). Minor cervical traumas, infection, migraine and hypertension are putative risk factors, and inverse associations with obesity and hypercholesterolemia are described. No confirmed genetic susceptibility factors have been identified using candidate gene approaches. We performed genome-wide association studies (GWAS) in 1,393 CeAD cases and 14,416 controls. The rs9349379[G] allele (PHACTR1) was associated with lower CeAD risk (odds ratio (OR) = 0.75, 95% confidence interval (CI) = 0.69-0.82; P = 4.46 × 10(-10)), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 × 10(-3); combined P = 1.00 × 10(-11)). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.
PubMed ID
25420145 View in PubMed
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A high-density association screen of 155 ion transport genes for involvement with common migraine.

https://arctichealth.org/en/permalink/ahliterature155857
Source
Hum Mol Genet. 2008 Nov 1;17(21):3318-31
Publication Type
Article
Date
Nov-1-2008
Author
Dale R Nyholt
K Steven LaForge
Mikko Kallela
Kirsi Alakurtti
Verneri Anttila
Markus Färkkilä
Eija Hämaläinen
Jaakko Kaprio
Mari A Kaunisto
Andrew C Heath
Grant W Montgomery
Hartmut Göbel
Unda Todt
Michel D Ferrari
Lenore J Launer
Rune R Frants
Gisela M Terwindt
Boukje de Vries
W M Monique Verschuren
Jan Brand
Tobias Freilinger
Volker Pfaffenrath
Andreas Straube
Dennis G Ballinger
Yiping Zhan
Mark J Daly
David R Cox
Martin Dichgans
Arn M J M van den Maagdenberg
Christian Kubisch
Nicholas G Martin
Maija Wessman
Leena Peltonen
Aarno Palotie
Author Affiliation
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane4029, Queensland, Australia. dale.nyholt@qimr.edu.au
Source
Hum Mol Genet. 2008 Nov 1;17(21):3318-31
Date
Nov-1-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Case-Control Studies
Child
Demography
European Continental Ancestry Group - genetics
Female
Finland
Gene Frequency
Genes - genetics
Genotype
Humans
Ion Transport - genetics
Male
Middle Aged
Migraine without Aura - genetics
Polymorphism, Single Nucleotide
Young Adult
Abstract
The clinical overlap between monogenic Familial Hemiplegic Migraine (FHM) and common migraine subtypes, and the fact that all three FHM genes are involved in the transport of ions, suggest that ion transport genes may underlie susceptibility to common forms of migraine. To test this leading hypothesis, we examined common variation in 155 ion transport genes using 5257 single nucleotide polymorphisms (SNPs) in a Finnish sample of 841 unrelated migraine with aura cases and 884 unrelated non-migraine controls. The top signals were then tested for replication in four independent migraine case-control samples from the Netherlands, Germany and Australia, totalling 2835 unrelated migraine cases and 2740 unrelated controls. SNPs within 12 genes (KCNB2, KCNQ3, CLIC5, ATP2C2, CACNA1E, CACNB2, KCNE2, KCNK12, KCNK2, KCNS3, SCN5A and SCN9A) with promising nominal association (0.00041
Notes
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PubMed ID
18676988 View in PubMed
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Variant in the sequence of the LINGO1 gene confers risk of essential tremor.

https://arctichealth.org/en/permalink/ahliterature152865
Source
Nat Genet. 2009 Mar;41(3):277-9
Publication Type
Article
Date
Mar-2009
Author
Hreinn Stefansson
Stacy Steinberg
Hjorvar Petursson
Omar Gustafsson
Iris H Gudjonsdottir
Gudrun A Jonsdottir
Stefan T Palsson
Thorlakur Jonsson
Jona Saemundsdottir
Gyda Bjornsdottir
Yvonne Böttcher
Theodora Thorlacius
Dietrich Haubenberger
Alexander Zimprich
Eduard Auff
Christoph Hotzy
Claudia M Testa
Lisa A Miyatake
Ami R Rosen
Kristleifur Kristleifsson
David Rye
Friedrich Asmus
Ludger Schöls
Martin Dichgans
Finnbogi Jakobsson
John Benedikz
Unnur Thorsteinsdottir
Jeffrey Gulcher
Augustine Kong
Kari Stefansson
Author Affiliation
deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland.
Source
Nat Genet. 2009 Mar;41(3):277-9
Date
Mar-2009
Language
English
Publication Type
Article
Keywords
Animals
Austria
Essential Tremor - genetics
Gene Frequency
Genetic Predisposition to Disease
Genetics, Population
Genome-Wide Association Study
Germany
Humans
Iceland
Linkage Disequilibrium
Membrane Proteins - genetics
Mice
Mice, Knockout
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide - physiology
Risk factors
United States
Abstract
We identified a marker in LINGO1 showing genome-wide significant association (P = 1.2 x 10(-9), odds ratio = 1.55) with essential tremor. LINGO1 has potent, negative regulatory influences on neuronal survival and is also important in regulating both central-nervous-system axon regeneration and oligodendrocyte maturation. Increased axon integrity observed in Lingo1 mouse [corrected] knockout models highlights the potential role of LINGO1 in the pathophysiology of ET [corrected]
Notes
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Erratum In: Nat Genet. 2009 Apr;41(4):504
PubMed ID
19182806 View in PubMed
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