Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.
OBJECTIVE
The purpose of the present study was to compare the prevalences of genetic polymorphisms in persons with cryptogenic stroke with those among stroke patients with evidence of large-artery occlusive disease or an unequivocal cardioembolic source (noncryptogenic stroke).


METHODS
We compared the prevalences of genetic polymorphisms thought to be related to thrombi formation in young stroke patients with evidence of large-artery occlusive disease or an unequivocal cardioembolic source (noncryptogenic stroke; controls; n=79) with those in young stroke patients without such sources (cryptogenic stroke; cases; n=67). Common variations in the genes encoding factor V, prothrombin, angiotensin I-converting enzyme, 5,10-methylenetetrahydrofolate reductase, endothelial cell nitric oxide synthase, tissue plasminogen activator, plasminogen activator inhibitor-1, and fibrinogen were evaluated. We also compared the allele prevalence of these genes among all stroke patients with those among a large pool of historical controls assayed for these genes.


RESULTS
None of these genetic polymorphisms was statistically significantly related to cryptogenic stroke. With respect to a comparison of all ischemic stroke with historical controls, only the prevalence of tissue plasminogen activator D allele among stroke subjects was statistically significantly higher than that of the historical controls (P=0.0014).


CONCLUSIONS
These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.
Austin
Harland
H
Division of AIDS, STD, and TB Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, Public Health Service, US Department of Health and Human Services, Atlanta, Ga, USA. haustin@sph.emory.edu
Chimowitz
Marc I
MI
Hill
Holly A
HA
Chaturvedi
Seemant
S
Wechsler
Lawrence R
LR
Wityk
Robert J
RJ
Walz
Elizabeth
E
Wilterdink
Janet L
JL
Coull
Bruce
B
Sila
Cathy A
CA
Mitsias
Panos
P
Evatt
Bruce
B
Hooper
W Craig
WC
D000328:Adult; D044383:Black People / Q000235:genetics; D001779:Blood Coagulation Factors / Q000235:genetics*; D016022:Case-Control Studies; D015984:Causality; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D015995:Prevalence; D018570:Risk Assessment; D012307:Risk Factors; D020521:Stroke / Q000097:blood / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D010959:Tissue Plasminogen Activator / Q000235:genetics; D014481:United States / Q000453:epidemiology; D044465:White People / Q000235:genetics; D001741:Black or African American
D001779:Blood Coagulation Factors; D010959:Tissue Plasminogen Activator