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Updated: Jul 13, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery
G Kuhlenbäumer1, F Friedrichs, B Kis
1Leibniz Institute of Atherosclerosis Research, University of Münster, Münster, Germany. gkuhlen@uni-muenster.de
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.
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