Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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SHR Neuro Krebs Kardio Lipid

Rannikmäe, K; Davies, G; Thomson, PA; Bevan, S; Devan, WJ; Falcone, GJ; Traylor, M; Anderson, CD; Battey, TW; Radmanesh, F; Deka, R; Woo, JG; Martin, LJ; Jimenez-Conde, J; Selim, M; Brown, DL; Silliman, SL; Kidwell, CS; Montaner, J; Langefeld, CD; Slowik, A; Hansen, BM; Lindgren, AG; Meschia, JF; Fornage, M; Bis, JC; Debette, S; Ikram, MA; Longstreth, WT; Schmidt, R; Zhang, CR; Yang, Q; Sharma, P; Kittner, SJ; Mitchell, BD; Holliday, EG; Levi, CR; Attia, J; Rothwell, PM; Poole, DL; Boncoraglio, GB; Psaty, BM; Malik, R; Rost, N; Worrall, BB; Dichgans, M; Van Agtmael, T; Woo, D; Markus, HS; Seshadri, S; Rosand, J; Sudlow, CL; METASTROKE Consortium; CHARGE WMH Group; ISGC ICH GWAS Study Collaboration; WMH in Ischemic Stroke GWAS Study Collaboration; International Stroke Genetics Consortium.
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.
Neurology. 2015; 84(9):918-926 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Autor/innen der Med Uni Graz:
Schmidt Reinhold

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We hypothesized that common variants in the collagen genes COL4A1/COL4A2 are associated with sporadic forms of cerebral small vessel disease. We conducted meta-analyses of existing genotype data among individuals of European ancestry to determine associations of 1,070 common single nucleotide polymorphisms (SNPs) in the COL4A1/COL4A2 genomic region with the following: intracerebral hemorrhage and its subtypes (deep, lobar) (1,545 cases, 1,485 controls); ischemic stroke and its subtypes (cardioembolic, large vessel disease, lacunar) (12,389 cases, 62,004 controls); and white matter hyperintensities (2,733 individuals with ischemic stroke and 9,361 from population-based cohorts with brain MRI data). We calculated a statistical significance threshold that accounted for multiple testing and linkage disequilibrium between SNPs (p < 0.000084). Three intronic SNPs in COL4A2 were significantly associated with deep intracerebral hemorrhage (lead SNP odds ratio [OR] 1.29, 95% confidence interval [CI] 1.14-1.46, p = 0.00003; r(2) > 0.9 between SNPs). Although SNPs associated with deep intracerebral hemorrhage did not reach our significance threshold for association with lacunar ischemic stroke (lead SNP OR 1.10, 95% CI 1.03-1.18, p = 0.0073), and with white matter hyperintensity volume in symptomatic ischemic stroke patients (lead SNP OR 1.07, 95% CI 1.01-1.13, p = 0.016), the direction of association was the same. There was no convincing evidence of association with white matter hyperintensities in population-based studies or with non-small vessel disease cerebrovascular phenotypes. Our results indicate an association between common variation in the COL4A2 gene and symptomatic small vessel disease, particularly deep intracerebral hemorrhage. These findings merit replication studies, including in ethnic groups of non-European ancestry. © 2015 American Academy of Neurology.
Find related publications in this database (using NLM MeSH Indexing)
Cerebral Small Vessel Diseases - diagnosis
Cerebral Small Vessel Diseases - genetics
Collagen Type IV - genetics
Genetic Association Studies -
Genetic Variation - genetics
Humans -
Polymorphism, Single Nucleotide - genetics

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