Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects

Gene

Volumn 526, Issue 2, 2013, Pages 437-442

  Wang, Xiaomeng ^a   Zhang, Zhizhong ^a   Liu, Wenhua ^a   Xiong, Yunyun ^a   Sun, Wen ^b   Huang, Xianjun ^c   Jiang, Yongjun ^a   Ni, Guanzhong ^d   Sun, Wenshan ^a   Zhou, Lulu ^b   Wu, Li ^a   Zhu, Wusheng ^a   Li, Hua ^a   Liu, Xinfeng ^a   Xu, Gelin ^a  

^a MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

^b SOUTHERN MEDICAL UNIVERSITY   (China)

^c WANNAN MEDICAL COLLEGE   (China)

^d SUN YAT SEN UNIVERSITY   (China)

Author keywords

Genetic association studies; Multifactor dimensionality reduction; Single nucleotide polymorphisms

Indexed keywords

STROMELYSIN; TISSUE INHIBITOR OF METALLOPROTEINASE 2;

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; ENOS GENE; FEMALE; GENE; GENE FREQUENCY; GENE INTERACTION; GENE LOCUS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOYAMOYA DISEASE; MULTIFACTOR DIMENSIONALITY REDUCTION; PDGFRB GENE; PRIORITY JOURNAL; RAPTOR GENE; RNF213 GENE; TGFB1 GENE;

ENDOTHELIAL NITRIC OXIDE SYNTHASE; ENOS; GENETIC ASSOCIATION STUDIES; MATRIX METALLOPROTEINASE-3; MDR; MMD; MMP-3; MOYAMOYA DISEASE; MULTIFACTOR DIMENSIONALITY REDUCTION; PDGFRB; PLATELET DERIVED GROWTH FACTOR RECEPTOR BETA; RING FINGER 213; RNF213; SINGLE NUCLEOTIDE POLYMORPHISMS; TGFB1; TIMP-2; TISSUE INHIBITORS OF METALLOPROTEINASE-2; TRANSFORMING GROWTH FACTOR BETA 1;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; EPISTASIS, GENETIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MATRIX METALLOPROTEINASE 3; MIDDLE AGED; MOYAMOYA DISEASE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA; TISSUE INHIBITOR OF METALLOPROTEINASE-2; UBIQUITIN-PROTEIN LIGASES;

RAPTORES;

EID: 84880705025     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.05.083     Document Type: Article

References (31)

1. Deshaies R.J., Joazeiro C.A. RING domain E3 ubiquitin ligases. Annu. Rev. Biochem. 2009, 78:399-434.
2. Duan L., et al. Moyamoya disease in China: its clinical features and outcomes. Stroke 2012, 43:56-60.
3. Dupont W.D., Plummer W.D. Power and sample size calculations. A review and computer program. Control. Clin. Trials 1990, 11:116-128.
4. Fu C., Xing Y., Song X. The association of the metalloproteinase-3 gene promoter polymorphisms and the middle cerebral artery stenosis. Cell Biochem. Biophys. 2011, 59:185-189.
5. Fukui M. Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis ('Moyamoya' disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin. Neurol. Neurosurg. 1997, 99(Suppl. 2):S238-S240.
6. Ioannidis J.P. Why most discovered true associations are inflated. Epidemiology 2008, 19:640-648.
7. Kamada F., et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J. Hum. Genet. 2011, 56:34-40.
8. Kang H.S., Kim S.K., Cho B.K., Kim Y.Y., Hwang Y.S., Wang K.C. Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial Moyamoya disease. Neurosurgery 2006, 58:1074-1080. (discussion 1074-80).
9. Kleinloog R., Regli L., Rinkel G.J., Klijn C.J. Regional differences in incidence and patient characteristics of Moyamoya disease: a systematic review. J. Neurol. Neurosurg. Psychiatry 2012, 83:531-536.
10. Kuriyama S., et al. Prevalence and clinicoepidemiological features of Moyamoya disease in Japan: findings from a nationwide epidemiological survey. Stroke 2008, 39:42-47.
11. Kuroda S., Houkin K. Moyamoya disease: current concepts and future perspectives. Lancet Neurol. 2008, 7:1056-1066.
12. Li H., et al. Association of a functional polymorphism in the MMP-3 gene with Moyamoya disease in the Chinese Han population. Cerebrovasc. Dis. 2010, 30:618-625.
13. Li M., Shi J., Fu L., Wang H., Zhou B., Wu X. Genetic polymorphism of MMP family and coronary disease susceptibility: a meta-analysis. Gene 2012, 495:36-41.
14. Liu W., et al. A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians. Environ. Health Prev. Med. 2010, 15:94-104.
15. Liu W., et al. Identification of RNF213 as a susceptibility gene for Moyamoya disease and its possible role in vascular development. PLoS One 2011, 6:e22542.
16. Liu W., et al. Evaluation of angiographic changes of the anterior choroidal and posterior communicating arteries for predicting cerebrovascular lesions in adult Moyamoya disease. J. Clin. Neurosci. 2011, 18:374-378.
17. Liu C., et al. Analysis of TGFB1 in European and Japanese Moyamoya disease patients. Eur. J. Med. Genet. 2012, 55:531-534.
18. Liu W., Hitomi T., Kobayashi H., Harada K.H., Koizumi A. Distribution of Moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations. Neurol. Med. Chir. (Tokyo) 2012, 52:299-303.
19. Miao W., et al. Epidemiological and clinical features of Moyamoya disease in Nanjing, China. Clin. Neurol. Neurosurg. 2010, 112:199-203.
20. Minato Y., Tashiro E., Kanai M., Nihei Y., Kodama Y., Imoto M. Transcriptional regulation of a new variant of human platelet-derived growth factor receptor alpha transcript by E2F-1. Gene 2007, 403:89-97.
21. Miyatake S., et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of Moyamoya disease. Neurology 2012, 78:803-810.
22. Miyatake S., et al. Sibling cases of Moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. J. Hum. Genet. 2012, 57:804-806.
23. Miyawaki S., Imai H., Takayanagi S., Mukasa A., Nakatomi H., Saito N. Identification of a genetic variant common to Moyamoya disease and intracranial major artery stenosis/occlusion. Stroke 2012, 43:3371-3374.
24. Ni G., et al. Increased levels of circulating SDF-1alpha and CD34+ CXCR4+ cells in patients with Moyamoya disease. Eur. J. Neurol. 2011, 18:1304-1309.
25. Park Y.S., et al. Age-specific eNOS polymorphisms in Moyamoya disease. Childs Nerv. Syst. 2011, 27:1919-1926.
26. Roder C., Nayak N.R., Khan N., Tatagiba M., Inoue I., Krischek B. Genetics of Moyamoya disease. J. Hum. Genet. 2010, 55:711-716.
27. Roder C., et al. Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients. Acta Neurochir. (Wien) 2010, 152:2153-2160.
28. Scott R.M., Smith E.R. Moyamoya disease and Moyamoya syndrome. N. Engl. J. Med. 2009, 360:1226-1237.
29. Thomas G., et al. Capillary and microelectrophoretic separations of ligase detection reaction products produced from low-abundant point mutations in genomic DNA. Electrophoresis 2004, 25:1668-1677.
30. Wu Z., et al. Molecular analysis of RNF213 gene for Moyamoya disease in the Chinese Han population. PLoS One 2012, 7:e48179.
31. Yi P., et al. PCR/LDR/capillary electrophoresis for detection of single-nucleotide differences between fetal and maternal DNA in maternal plasma. Prenat. Diagn. 2009, 29:217-222.