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.
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.
Authors: Joshua M Spin; Mark Hsu; Junya Azuma; Maureen M Tedesco; Alicia Deng; Justin S Dyer; Lars Maegdefessel; Ronald L Dalman; Philip S Tsao Journal: Physiol Genomics Date: 2011-06-28 Impact factor: 3.107
Authors: Ursula Schlötzer-Schrehardt; Francesca Pasutto; Pascal Sommer; Ian Hornstra; Friedrich E Kruse; Gottfried O H Naumann; André Reis; Matthias Zenkel Journal: Am J Pathol Date: 2008-10-30 Impact factor: 4.307
Authors: Pratap Challa; Silke Schmidt; Yutao Liu; Xuejun Qin; Robin R Vann; Pedro Gonzalez; R Rand Allingham; Michael A Hauser Journal: Mol Vis Date: 2008-01-29 Impact factor: 2.367