Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery dissection.
BACKGROUND
Spontaneous cervical artery dissection (sCAD) is a common cause of stroke in patients below 55 years. Dermal connective tissue abnormalities have been observed in up to 60% of patients. A chromosomal locus for connective tissue abnormalities associated with sCAD has been mapped to chromosome 15q24 to a candidate region containing the lysyl oxidase-like 1 gene (LOXL1). LOXL1 an excellent candidate susceptibility gene for non-familial sCAD was investigated by mutation analysis and a genetic association study.


METHODS
We sequenced the whole coding region of the LOXL1 gene in 15 sCAD patients and performed a genetic association study in 157 sCAD patients using 12 single nucleotide polymorphisms (SNP).


RESULTS
The SNP rs3825942 (Gly153Asp) showed marginal association with sCAD on an allele basis and in the dominant genetic model, and intronic SNP rs893817 under a recessive model only. None of the SNP haplotypes was associated with sCAD.


CONCLUSIONS
Genetic variation in LOXL1 might play a role as a risk factor for sCAD.
Kuhlenbäumer
G
G
Leibniz Institute of Atherosclerosis Research, University of Münster, Münster, Germany. gkuhlen@uni-muenster.de
Friedrichs
F
F
Kis
B
B
Berlit
P
P
Maintz
D
D
Nassenstein
I
I
Nabavi
D
D
Dittrich
R
R
Stoll
M
M
Ringelstein
B
B
D000328:Adult; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D000784:Aortic Dissection / Q000201:enzymology / Q000235:genetics*; D002574:Cervical Vertebrae / Q000098:blood supply*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors
D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human