Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach

References

• Bederson JB, Connoly ES Jr., Badjer HH, et al. Guidelines for the management of aneurysmal subarachnoid hemorrhage: a statement for healthcare professionals from a special writing group of the Stroke Council, American Heart Association. Stroke 2009;40:994–1025.
   PubMed Web of Science ®Google Scholar
• Rinkel GJE, Djibuti M, Algra A, et al. Prevalence and risk of rupture of intracranial aneurysms: a systematic review. Stroke 1998;29:251–6.
   PubMed Web of Science ®Google Scholar
• Teasdale GM, Wardlaw JM, White PM, et al. Scottish Aneurysm Study Group. The familial risk of subarachnoid hemorrhage. Brain 2005;128:1677–85.
   PubMed Web of Science ®Google Scholar
• Feigin VL, Rinkel GJ, Lawes CM, et al. Risk factors for subarachnoid hemorrhage: an updated systematic review of epidemiological studies. Stroke 2005;36:2773–80.
   PubMed Web of Science ®Google Scholar
• Juvela S, Porras M, Poussa K. Natural history of unruptured intracranial aneurysms: probability of and risk factors for aneurysm rupture. J Neurosurg 2000;93:379–87.
   PubMed Web of Science ®Google Scholar
• Broderick JP, Brott T, Tomsick T, et al. Risk of hemorrhage in blacks and in whites. N Eng J Med 1992;386:733–6.
   Web of Science ®Google Scholar
• Schievink WI, Schaid DJ, Michels VV, et al. Familial aneurysmal subarachnoid hemorrhage: a community-based study. J Neurosurg 1995;83:426–9.
   PubMed Web of Science ®Google Scholar
• Debelle L, Tamburo AM. Elastin: molecular description and function. Int J Biochem Cell Biol 1999;31:261–72.
   PubMed Web of Science ®Google Scholar
• Tassabejhi M, Metcalfe K, Hurst J, et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Human Mole Genet 1998;7:1021–8.
   PubMed Web of Science ®Google Scholar
• Ostergard JR, Oxlund H. Collagen type III deficiency in patients with rupture of intracranial saccular aneurysms. J Neurosurg 1987;67:690–6.
   PubMed Web of Science ®Google Scholar
• Chyatte D, Reilly J, Tilson MD. Morphometric analysis of reticular and elastin fibers in the cerebral arteries of patients with intracranial aneurysms. Neurosurgery 1990;26:939–43.
   PubMed Web of Science ®Google Scholar
• Onda H, Kasuya H, Yoneyama T, et al. Genome wide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11. Am J Human Genet 2001;69:804–19.
   PubMed Web of Science ®Google Scholar
• Farnham JM, Camp NJ, Neuhausen LJ, et al. Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm. Human Genet 2004;114:250–5.
   PubMed Web of Science ®Google Scholar
• Yamada S, Utsunomiya M, Inoue K, et al. Absence of linkage of familial intracranial aneurysms to 7q11 in highly aggregated Japanese families. Stroke 2003;34:892–900.
   PubMed Web of Science ®Google Scholar
• Saracini C, Bolli P, Sticchi E, et al. Polymorphisms of genes involved in extracellular matrix remodeling and abdominal aortic aneurysm. J Vascular Surgery 2012;55:171–9.
   PubMed Web of Science ®Google Scholar
• Yang S, Wang T, You C, et al. Association of polymorphisms in the elastin gene with sporadic ruptured intracranial aneurysms and unruptured intracranial aneurysms in Chinese patients. Int J Neurosci 2013;123:454–8.
   PubMed Web of Science ®Google Scholar
• Kaushal R, Woo D, Pal P, et al. Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes. BMC Med Genet 2007;8:49.
   PubMed Web of Science ®Google Scholar
• Krex D, Konig IR, Ziegler A, et al. Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences. Cerebrovasc Dis 2004;18:104–10.
   PubMed Web of Science ®Google Scholar
• Hofer A, Hermans M, Kubassek N, et al. Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe. Stroke 2003;34:1207–11.
   PubMed Web of Science ®Google Scholar
• Ruigrock YM, Seitz U, Wolterink S, et al. Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage. Stroke 2004;35:2064–8.
   PubMed Web of Science ®Google Scholar
• Zintzaras E, Lau J. Synthesis of genetic association studies for pertinent gene-disease associations requires appropriate methodological and statistical approaches. J Clin Epidemiol 2008;61:634–45.
   PubMed Web of Science ®Google Scholar
• Trikalinos TA, Salanti G, Zintzaras E, et al. Meta-analysis methods. Adv Genet 2008;60:311–34.
   PubMed Web of Science ®Google Scholar
• Zintzaras E. The generalized odds ratio as a measure of genetic risk effect in the analysis and meta-analysis of association studies. Stat Appl Genet Mol Biol 2010;9: Article21.
   PubMed Web of Science ®Google Scholar
• Zintzaras E. The power of generalized odds ratio in assessing association in genetic studies with known mode of inheritance. J Appl Stat 2012;39:2569–81.
   Web of Science ®Google Scholar
• Zintzaras E, Santos M. Estimating the mode of inheritance in genetic association studies of qualitative traits based on the degree of dominance index. BMC Med Res Methodol 2011;11:171.
   PubMed Web of Science ®Google Scholar
• Olson JM, Vongpunsawad S, Kuivaniemi H, et al. Search for intracranial aneurysm susceptibility gene(s) using Finnish families. BMC Med Genet 2002;3.
   PubMedGoogle Scholar
• He D, Miao M, Sitarz EE, et al. Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical Properties of elastin-like polypeptides. PLoS ONE 2012;7:e46130. doi:1371/journal.pone.00467130.
   PubMed Web of Science ®Google Scholar
• Zintzaras E, Santos M. Performance of MAX test and degree of dominance index in predicting the mode of inheritance. Stat Appl Genet Mol Biol 2012;1: Article 4.
   Google Scholar
• Harbord RM, Egger M, Sterne JA. A modified test for small-study effects in meta-analyses of controlled trials with binary endpoints. Stat Med 2006;25:3443–57.
   PubMed Web of Science ®Google Scholar
• Zintzaras E. Impact of Hardy–Weinberg equilibrium deviation on allele-based risk effect of genetic association studies and meta-analysis. Eur J Epidemiol 2010;25:553–60.
   PubMed Web of Science ®Google Scholar
• Khoury MJ, Beaty TH, Cohen BH. Fundamentals of genetic epidemiology. Oxford, USA: University Press; 1993.
   Google Scholar
• McColgan P, Thant KZ, Sharma P. The genetics of sporadic ruptured and unruptured intracranial aneurysms: a genetic meta-analysis of 8 genes and 13 polymorphisms in approxiamately 20,000 individuals. J Neurosurg 2010;112(4):714–21.
   PubMed Web of Science ®Google Scholar
• Akagawa H, Tajima A, Sakamoto Y, et al. A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms. Human Mol Genet 2006;15:1722–34.
   PubMed Web of Science ®Google Scholar
• Bilguvar K, Yasuno K, Niemela M, et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet 2008;40(12):1472–7.
   PubMed Web of Science ®Google Scholar
• Yasuno K, Bilguvar K, Bijlenga P, et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet 2010;42(5):420–5.
   PubMed Web of Science ®Google Scholar
• Chapman J, Clayton D. Detecting association using epistatic information. Genet Epidemiol 2007;31:894–909.
   PubMed Web of Science ®Google Scholar
• Mineharu Y, Inoue K., Inoue S, et al. Association analysis of common variants of ELN, NOS2A, APOE and ACE2 to intracranial aneurysm. Stroke 2006;37:1189–94.
   PubMed Web of Science ®Google Scholar
• Clayton D, McKeigne PM. Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet 2001;358:1356–60.
   PubMed Web of Science ®Google Scholar