Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies
- Authors:
- Yoshiji Yamada
- Jun Sakuma
- Ichiro Takeuchi
- Yoshiki Yasukochi
- Kimihiko Kato
- Mitsutoshi Oguri
- Tetsuo Fujimaki
- Hideki Horibe
- Masaaki Muramatsu
- Motoji Sawabe
- Yoshinori Fujiwara
- Yu Taniguchi
- Shuichi Obuchi
- Hisashi Kawai
- Shoji Shinkai
- Seijiro Mori
- Tomio Arai
- Masashi Tanaka
-
Affiliations: Department of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu 514‑8507, Japan, CREST, Japan Science and Technology Agency, Kawaguchi 332-0012, Japan, Department of Cardiovascular Medicine, Inabe General Hospital, Inabe 511-0428, Japan, Department of Cardiovascular Medicine, Gifu Prefectural Tajimi Hospital, Tajimi 507-8522, Japan, Department of Molecular Epidemiology, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 101-0062, Japan, Section of Molecular Pathology, Graduate School of Health Care Sciences, Tokyo Medical and Dental University, Tokyo 113-8510, Japan, Research Team for Social Participation and Community Health, Tokyo Metropolitan Institute of Gerontology, Tokyo 173-0015, Japan, Research Team for Promoting Support System for Home Care, Tokyo Metropolitan Institute of Gerontology, Tokyo 173-0015, Japan, Research Team for Social Participation and Health Promotion, Tokyo Metropolitan Institute of Gerontology, Tokyo 173-0015, Japan, Center for Promotion of Clinical Investigation, Tokyo Metropolitan Geriatric Hospital, Tokyo 173-0015, Japan, Department of Pathology, Tokyo Metropolitan Geriatric Hospital, Tokyo 173-0015, Japan, Department of Clinical Laboratory, Tokyo Metropolitan Geriatric Hospital, Tokyo 173-0015, Japan - Published online on: May 3, 2017 https://doi.org/10.3892/ijmm.2017.2972
- Pages: 1477-1491
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Copyright: © Yamada et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
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Abstract
Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, Cushman M, Das SR, de Ferranti S, Després JP, Fullerton HJ, et al Writing Group Members; American Heart Association Statistics Committee; Stroke Statistics Subcommittee: Heart Disease and Stroke Statistics-2016 Update: A Report From the American Heart Association. Circulation. 133:e38–e360. 2016. View Article : Google Scholar | |
Falcone GJ, Malik R, Dichgans M and Rosand J: Current concepts and clinical applications of stroke genetics. Lancet Neurol. 13:405–418. 2014. View Article : Google Scholar : PubMed/NCBI | |
Bevan S, Traylor M, Adib-Samii P, Malik R, Paul NL, Jackson C, Farrall M, Rothwell PM, Sudlow C, Dichgans M, et al: Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations. Stroke. 43:3161–3167. 2012. View Article : Google Scholar : PubMed/NCBI | |
Gretarsdottir S, Thorleifsson G, Manolescu A, Styrkarsdottir U, Helgadottir A, Gschwendtner A, Kostulas K, Kuhlenbäumer G, Bevan S, Jonsdottir T, et al: Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. Ann Neurol. 64:402–409. 2008. View Article : Google Scholar : PubMed/NCBI | |
Gudbjartsson DF, Holm H, Gretarsdottir S, Thorleifsson G, Walters GB, Thorgeirsson G, Gulcher J, Mathiesen EB, Njølstad I, Nyrnes A, et al: A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet. 41:876–878. 2009. View Article : Google Scholar : PubMed/NCBI | |
Ikram MA, Seshadri S, Bis JC, Fornage M, DeStefano AL, Aulchenko YS, Debette S, Lumley T, Folsom AR, van den Herik EG, et al: Genomewide association studies of stroke. N Engl J Med. 360:1718–1728. 2009. View Article : Google Scholar : PubMed/NCBI | |
Holliday EG, Maguire JM, Evans TJ, Koblar SA, Jannes J, Sturm JW, Hankey GJ, Baker R, Golledge J, Parsons MW, et al Australian Stroke Genetics Collaborative; International Stroke Genetics Consortium; Wellcome Trust Case Control Consortium 2: Common variants at 6p21.1 are associated with large artery atherosclerotic stroke. Nat Genet. 44:1147–1151. 2012. View Article : Google Scholar : PubMed/NCBI | |
Bellenguez C, Bevan S, Gschwendtner A, Spencer CC, Burgess AI, Pirinen M, Jackson CA, Traylor M, Strange A, Su Z, et al International Stroke Genetics Consortium (ISGC); Wellcome Trust Case Control Consortium 2 (WTCCC2): Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet. 44:328–333. 2012. View Article : Google Scholar : PubMed/NCBI | |
Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng YC, Fornage M, Ikram MA, Malik R, Bevan S, et al Australian Stroke Genetics Collaborative, Wellcome Trust Case Control Consortium 2 (WTCCC2); International Stroke Genetics Consortium: Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): A meta-analysis of genome-wide association studies. Lancet Neurol. 11:951–962. 2012. View Article : Google Scholar : PubMed/NCBI | |
Kilarski LL, Achterberg S, Devan WJ, Traylor M, Malik R, Lindgren A, Pare G, Sharma P, Slowik A, Thijs V, et al GARNET Collaborative Research Group, Wellcome Trust Case Control Consortium 2; Australian Stroke Genetic Collaborative; the METASTROKE Consortium; the International Stroke Genetics Consortium: Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology. 83:678–685. 2014. View Article : Google Scholar : PubMed/NCBI | |
Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Stroke Genetics Network (SiGN); International Stroke Genetics Consortium (ISGC): Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 15:695–707. 2016. View Article : Google Scholar : PubMed/NCBI | |
NINDS Stroke Genetics Network: International Stroke Genetics Consortium (ISGC): Loci associated with ischaemic stroke and its subtypes (SiGN): A genome-wide association study. Lancet Neurol. 15:174–184. 2016. View Article : Google Scholar | |
Qureshi AI, Tuhrim S, Broderick JP, Batjer HH, Hondo H and Hanley DF: Spontaneous intracerebral hemorrhage. N Engl J Med. 344:1450–1460. 2001. View Article : Google Scholar : PubMed/NCBI | |
Sacco RL: Lobar intracerebral hemorrhage. N Engl J Med. 342:276–279. 2000. View Article : Google Scholar : PubMed/NCBI | |
O'Donnell HC, Rosand J, Knudsen KA, Furie KL, Segal AZ, Chiu RI, Ikeda D and Greenberg SM: Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage. N Engl J Med. 342:240–245. 2000. View Article : Google Scholar : PubMed/NCBI | |
Woo D, Kaushal R, Chakraborty R, Woo J, Haverbusch M, Sekar P, Kissela B, Pancioli A, Jauch E, Kleindorfer D, et al: Association of apolipoprotein E4 and haplotypes of the apolipo-protein E gene with lobar intracerebral hemorrhage. Stroke. 36:1874–1879. 2005. View Article : Google Scholar : PubMed/NCBI | |
Greenberg SM, Vonsattel JP, Segal AZ, Chiu RI, Clatworthy AE, Liao A, Hyman BT and Rebeck GW: Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy. Neurology. 50:961–965. 1998. View Article : Google Scholar : PubMed/NCBI | |
Devan WJ, Falcone GJ, Anderson CD, Jagiella JM, Schmidt H, Hansen BM, Jimenez-Conde J, Giralt-Steinhauer E, Cuadrado-Godia E, Soriano C, et al International Stroke Genetics Consortium: Heritability estimates identify a substantial genetic contribution to risk and outcome of intracerebral hemorrhage. Stroke. 44:1578–1583. 2013. View Article : Google Scholar : PubMed/NCBI | |
Falcone GJ, Biffi A, Devan WJ, Jagiella JM, Schmidt H, Kissela B, Hansen BM, Jimenez-Conde J, Giralt-Steinhauer E, Elosua R, et al International Stroke Genetics Consortium: Burden of risk alleles for hypertension increases risk of intracerebral hemorrhage. Stroke. 43:2877–2883. 2012. View Article : Google Scholar : PubMed/NCBI | |
Woo D, Falcone GJ, Devan WJ, Brown WM, Biffi A, Howard TD, Anderson CD, Brouwers HB, Valant V, Battey TW, et al International Stroke Genetics Consortium: Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. Am J Hum Genet. 94:511–521. 2014. View Article : Google Scholar : PubMed/NCBI | |
Macdonald RL and Schweizer TA: Spontaneous subarachnoid haemorrhage. Lancet. 389:655–666. 2017. View Article : Google Scholar | |
van Gijn J, Kerr RS and Rinkel GJ: Subarachnoid haemorrhage. Lancet. 369:306–318. 2007. View Article : Google Scholar : PubMed/NCBI | |
Linn FHH, Rinkel GJE, Algra A and van Gijn J: Incidence of subarachnoid hemorrhage: role of region, year, and rate of computed tomography: A meta-analysis. Stroke. 27:625–629. 1996. View Article : Google Scholar : PubMed/NCBI | |
Johnston SC, Selvin S and Gress DR: The burden, trends, and demographics of mortality from subarachnoid hemorrhage. Neurology. 50:1413–1418. 1998. View Article : Google Scholar : PubMed/NCBI | |
Tromp G, Weinsheimer S, Ronkainen A and Kuivaniemi H: Molecular basis and genetic predisposition to intracranial aneurysm. Ann Med. 46:597–606. 2014. View Article : Google Scholar : PubMed/NCBI | |
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, et al: Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet. 40:1472–1477. 2008. View Article : Google Scholar : PubMed/NCBI | |
Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, et al: Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet. 42:420–425. 2010. View Article : Google Scholar : PubMed/NCBI | |
Yasuno K, Bakırcıoğlu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, et al: Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proc Natl Acad Sci USA. 108:19707–19712. 2011. View Article : Google Scholar : PubMed/NCBI | |
Foroud T, Koller DL, Lai D, Sauerbeck L, Anderson C, Ko N, Deka R, Mosley TH, Fornage M, Woo D, et al FIA Study Investigators: Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk. Stroke. 43:2846–2852. 2012. View Article : Google Scholar : PubMed/NCBI | |
Low SK, Takahashi A, Cha PC, Zembutsu H, Kamatani N, Kubo M and Nakamura Y: Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. Hum Mol Genet. 21:2102–2110. 2012. View Article : Google Scholar : PubMed/NCBI | |
Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS, Brown RD Jr, Connolly ES, Eriksson JG, Flaherty M, et al Familial Intracranial Aneurysm Study Investigators: Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. Stroke. 45:3194–3199. 2014. View Article : Google Scholar : PubMed/NCBI | |
Alg VS, Sofat R, Houlden H and Werring DJ: Genetic risk factors for intracranial aneurysms: A meta-analysis in more than 116000 individuals. Neurology. 80:2154–2165. 2013. View Article : Google Scholar : PubMed/NCBI | |
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, et al: Finding the missing heritability of complex diseases. Nature. 461:747–753. 2009. View Article : Google Scholar : PubMed/NCBI | |
Kubo M, Hata J, Ninomiya T, Matsuda K, Yonemoto K, Nakano T, Matsushita T, Yamazaki K, Ohnishi Y, Saito S, et al: A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction. Nat Genet. 39:212–217. 2007. View Article : Google Scholar : PubMed/NCBI | |
Hata J, Matsuda K, Ninomiya T, Yonemoto K, Matsushita T, Ohnishi Y, Saito S, Kitazono T, Ibayashi S, Iida M, et al: Functional SNP in an Sp1-binding site of AGTRL1 gene is associated with susceptibility to brain infarction. Hum Mol Genet. 16:630–639. 2007. View Article : Google Scholar : PubMed/NCBI | |
Matsushita T, Ashikawa K, Yonemoto K, Hirakawa Y, Hata J, Amitani H, Doi Y, Ninomiya T, Kitazono T, Ibayashi S, et al: Functional SNP of ARHGEF10 confers risk of atherothrombotic stroke. Hum Mol Genet. 19:1137–1146. 2010. View Article : Google Scholar : PubMed/NCBI | |
Sacco RL, Kasner SE, Broderick JP, Caplan LR, Connors JJ, Culebras A, Elkind MS, George MG, Hamdan AD, Higashida RT, et al American Heart Association Stroke Council; Council on Cardiovascular Surgery and Anesthesia; Council on Cardiovascular Radiology and Intervention; Council on Cardiovascular and Stroke Nursing; Council on Epidemiology and Prevention; Council on Peripheral Vascular Disease; Council on Nutrition; Physical Activity and Metabolism: An updated definition of stroke for the 21st century: A statement for healthcare professionals from the American Heart Association/American Stroke Association. Stroke. 44:2064–2089. 2013. View Article : Google Scholar : PubMed/NCBI | |
Grove ML, Yu B, Cochran BJ, Haritunians T, Bis JC, Taylor KD, Hansen M, Borecki IB, Cupples LA and Fornage M: Best practices and joint calling of the HumanExome BeadChip: The CHARGE Consortium. PLoS One. 8:e680952013. View Article : Google Scholar : PubMed/NCBI | |
Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP and Zondervan KT: Data quality control in genetic case-control association studies. Nat Protoc. 5:1564–1573. 2010. View Article : Google Scholar : PubMed/NCBI | |
Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA and Reich D: Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 38:904–909. 2006. View Article : Google Scholar : PubMed/NCBI | |
Kang JQ and Barnes G: A common susceptibility factor of both autism and epilepsy: Functional deficiency of GABA A receptors. J Autism Dev Disord. 43:68–79. 2013. View Article : Google Scholar | |
Sinnett D, Wagstaff J, Glatt K, Woolf E, Kirkness EJ and Lalande M: High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11–q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet. 52:1216–1229. 1993.PubMed/NCBI | |
Glatt K, Sinnett D and Lalande M: The human gamma-amino-butyric acid receptor subunit beta 3 and alpha 5 gene cluster in chromosome 15q11–q13 is rich in highly polymorphic (CA)n repeats. Genomics. 19:157–160. 1994. View Article : Google Scholar : PubMed/NCBI | |
Scapoli L, Martinelli M, Pezzetti F, Carinci F, Bodo M, Tognon M and Carinci P: Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. Hum Genet. 110:15–20. 2002. View Article : Google Scholar : PubMed/NCBI | |
Macdonald RL, Kang JQ and Gallagher MJ: Mutations in GABAA receptor subunits associated with genetic epilepsies. J Physiol. 588:1861–1869. 2010. View Article : Google Scholar : PubMed/NCBI | |
Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH Jr, Macdonald RL and Sutcliffe JS: Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism. Mol Psychiatry. 16:86–96. 2011. View Article : Google Scholar | |
Hooper JD, Clements JA, Quigley JP and Antalis TM: Type II transmembrane serine proteases. Insights into an emerging class of cell surface proteolytic enzymes. J Biol Chem. 276:857–860. 2001. View Article : Google Scholar | |
Bugge TH, Antalis TM and Wu Q: Type II transmembrane serine proteases. J Biol Chem. 284:23177–23181. 2009. View Article : Google Scholar : PubMed/NCBI | |
Antalis TM, Buzza MS, Hodge KM, Hooper JD and Netzel-Arnett S: The cutting edge: Membrane-anchored serine protease activities in the pericellular microenvironment. Biochem J. 428:325–346. 2010. View Article : Google Scholar : PubMed/NCBI | |
Luostari K, Hartikainen JM, Tengström M, Palvimo JJ, Kataja V, Mannermaa A and Kosma VM: Type II transmembrane serine protease gene variants associate with breast cancer. PLoS One. 9:e1025192014. View Article : Google Scholar : PubMed/NCBI | |
Hayano T and Kikuchi M: Molecular cloning of the cDNA encoding a novel protein disulfide isomerase-related protein (PDIR). FEBS Lett. 372:210–214. 1995. View Article : Google Scholar : PubMed/NCBI | |
Vinaik R, Kozlov G and Gehring K: Structure of the non-catalytic domain of the protein disulfide isomerase-related protein (PDIR) reveals function in protein binding. PLoS One. 8:e620212013. View Article : Google Scholar : PubMed/NCBI | |
de Vries PS, Chasman DI, Sabater-Lleal M, Chen MH, Huffman JE, Steri M, Tang W, Teumer A, Marioni RE, Grossmann V, et al: A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. Hum Mol Genet. 25:358–370. 2016. View Article : Google Scholar : | |
Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, et al: New gene functions in megakaryopoiesis and platelet formation. Nature. 480:201–208. 2011. View Article : Google Scholar : PubMed/NCBI | |
Bylund J, Bylund M and Oliw EH: cDna cloning and expression of CYP4F12, a novel human cytochrome 450. Biochem Biophys Res Commun. 280:892–897. 2001. View Article : Google Scholar : PubMed/NCBI | |
Hashizume T, Imaoka S, Hiroi T, Terauchi Y, Fujii T, Miyazaki H, Kamataki T and Funae Y: cDNA cloning and expression of a novel cytochrome 450 (cyp4f12) from human small intestine. Biochem Biophys Res Commun. 280:1135–1141. 2001. View Article : Google Scholar : PubMed/NCBI | |
Kikuta Y, Kusunose E and Kusunose M: Prostaglandin and leukotriene omega-hydroxylases. Prostaglandins Other Lipid Mediat. 68–69:345–362. 2002. View Article : Google Scholar | |
Cauffiez C, Klinzig F, Rat E, Tournel G, Allorge D, Chevalier D, Pottier N, Lovecchio T, Colombel JF, Lhermitte M, et al: Human CYP4F12 genetic polymorphism: Identification and functional characterization of seven variant allozymes. Biochem Pharmacol. 68:2417–2425. 2004. View Article : Google Scholar : PubMed/NCBI | |
Ye X, Ji C, Huang Q, Cheng C, Tang R, Xu J, Zeng L, Dai J, Wu Q, Gu S, et al: Isolation and characterization of a human putative receptor protein kinase cDNA STYK1. Mol Biol Rep. 30:91–96. 2003. View Article : Google Scholar : PubMed/NCBI | |
Liu L, Yu XZ, Li TS, Song LX, Chen PL, Suo TL, Li YH, Wang SD, Chen Y, Ren YM, et al: A novel protein tyrosine kinase NOK that shares homology with platelet-derived growth factor/fibroblast growth factor receptors induces tumorigenesis and metastasis in nude mice. Cancer Res. 64:3491–3499. 2004. View Article : Google Scholar : PubMed/NCBI | |
Moriai R, Kobayashi D, Amachika T, Tsuji N and Watanabe N: Diagnostic relevance of overexpressed NOK mRNA in breast cancer. Anticancer Res. 26:4969–4973. 2006. | |
Amachika T, Kobayashi D, Moriai R, Tsuji N and Watanabe N: Diagnostic relevance of overexpressed mRNA of novel oncogene with kinase-domain (NOK) in lung cancers. Lung Cancer. 56:337–340. 2007. View Article : Google Scholar : PubMed/NCBI | |
Jackson KA, Oprea G, Handy J and Kimbro KS: Aberrant STYK1 expression in ovarian cancer tissues and cell lines. J Ovarian Res. 2:152009. View Article : Google Scholar : PubMed/NCBI | |
Chung S, Tamura K, Furihata M, Uemura M, Daigo Y, Nasu Y, Miki T, Shuin T, Fujioka T, Nakamura Y, et al: Overexpression of the potential kinase serine/threonine/tyrosine kinase 1 (STYK1) in castration-resistant prostate cancer. Cancer Sci. 100:2109–2114. 2009. View Article : Google Scholar : PubMed/NCBI | |
Hu L, Chen HY, Cai J, Zhang Y, Qi CY, Gong H, Zhai YX, Fu H, Yang GZ and Gao CF: Serine threonine tyrosine kinase 1 is a potential prognostic marker in colorectal cancer. BMC Cancer. 15:2462015. View Article : Google Scholar : PubMed/NCBI | |
Wang Z, Qu L, Deng B, Sun X, Wu S, Liao J, Fan J and Peng Z: STYK1 promotes epithelial-mesenchymal transition and tumor metastasis in human hepatocellular carcinoma through MEK/ERK and PI3K/AKT signaling. Sci Rep. 6:332052016. View Article : Google Scholar : PubMed/NCBI | |
Li J, Wu F, Sheng F, Li YJ, Jin D and Dingxand Zhang S: NOK/STYK1 interacts with GSK-3β and mediates Ser9 phosphorylation through activated Akt. FEBS Lett. 586:3787–3792. 2012. View Article : Google Scholar : PubMed/NCBI | |
Liu Y, Li T, Hu D and Zhang S: NOK/STYK1 promotes the genesis and remodeling of blood and lymphatic vessels during tumor progression. Biochem Biophys Res Commun. 478:254–259. 2016. View Article : Google Scholar : PubMed/NCBI | |
Giudice GJ, Emery DJ and Diaz LA: Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J Invest Dermatol. 99:243–250. 1992. View Article : Google Scholar : PubMed/NCBI | |
Pulkkinen L and Uitto J and Uitto J: Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 18:29–42. 1999. View Article : Google Scholar : PubMed/NCBI | |
Bauer JW and Lanschuetzer C: Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol. 28:53–60. 2003. View Article : Google Scholar : PubMed/NCBI | |
Kasperkiewicz M, Zillikens D and Schmidt E: Pemphigoid diseases: Pathogenesis, diagnosis, and treatment. Autoimmunity. 45:55–70. 2012. View Article : Google Scholar | |
Chen YJ, Wu CY, Lin MW, Chen TJ, Liao KK, Chen YC, Hwang CY, Chu SY, Chen CC, Lee DD, et al: Comorbidity profiles among patients with bullous pemphigoid: A nationwide population-based study. Br J Dermatol. 165:593–599. 2011. View Article : Google Scholar : PubMed/NCBI | |
Ameglio F, D'Auria L, Cordiali-Fei P, Mussi A, Valenzano L, D'Agosto G, Ferraro C, Bonifati C and Giacalone B: Bullous pemphigoid and pemphigus vulgaris: Correlated behaviour of serum VEGF, sE-selectin and TNF-alpha levels. J Biol Regul Homeost Agents. 11:148–153. 1997. | |
Seppänen A: Collagen XVII: A shared antigen in neurodermatological interactions? Clin Dev Immunol. 2013:2405702013. View Article : Google Scholar : PubMed/NCBI | |
Aoki T and Nishimura M: Molecular mechanism of cerebral aneurysm formation focusing on NF-κB as a key mediator of inflammation. J Biorheol. 24:16–21. 2010. View Article : Google Scholar | |
Chyatte D, Bruno G, Desai S and Todor DR: Inflammation and intracranial aneurysms. Neurosurgery. 45:1137–1147. 1999. View Article : Google Scholar : PubMed/NCBI | |
Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van't Hof FN, von Und Zu Fraunberg M, Helisalmi S and Hiltunen M: High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. PLoS Genet. 10:e10041342014. View Article : Google Scholar : PubMed/NCBI |