Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese

Molecular Vision

Volumn 18, Issue , 2012, Pages 1395-1401

  Shimizu, Ai ^a   Takano, Yoshimasa ^a   Shi, Dong ^a,b   Yokokura, Shunji ^a   Yokoyama, Yu ^a   Zheng, Xiaodong ^c   Shiraishi, Atsushi ^c   Ohashi, Yuichi ^c   Nakazawa, Toru ^a   Fuse, Nobuo ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b CHINA MEDICAL UNIVERSITY   (China)

^c EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; CNTNAP2 GENE; CONTROLLED STUDY; EXFOLIATION SYNDROME; FEMALE; GENE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; EXFOLIATION SYNDROME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84863330447     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Tarkkanen A, Kivela T, John G. Lindberg and the discovery of exfoliation syndrome. Acta Ophthalmol Scand 2002; 80:151-4. [PMID: 11952480]
2. Schlötzer-Schrehardt U, Naumann GO. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol 2006; 141:921-37. [PMID: 16678509]
3. Forsman E, Cantor RM, Lu A, Eriksson A, Fellman J, Jarvela I, Forsius H. Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population. Acta Ophthalmol Scand 2007; 85:500-7. [PMID: 17655611]
4. Forsius H. Prevalence of pseudoexfoliation of the lens in Finns, Lapps, Icelanders, Eskimos, and Russians. Trans Ophthalmol Soc U K 1979; 99:296-8. [PMID: 298430]
5. Forsius H. Exfoliation syndrome in various ethnic populations. Acta Ophthalmol Suppl 1988; 184:71-85. [PMID: 2853925]
6. Ringvold A. Epidemiology of glaucoma in northern Europe. Eur J Ophthalmol 1996; 6:26-9. [PMID: 8744847]
7. Mitchell P, Wang JJ, Hourihan F. The relationship between glaucoma and pseudoexfoliation: the Blue Mountains Eye Study. Arch Ophthalmol 1999; 117:1319-24. [PMID: 10532440]
8. Shiose Y, Kitazawa Y, Tsukahara S, Akamatsu T, Mizokami K, Futa R, Katsushima H, Kosaki H. Epidemiology of glaucoma in Japan-a nationwide glaucoma survey. Jpn J Ophthalmol 1991; 35:133-55. [PMID: 1779484]
9. Iwase A, Suzuki Y, Araie M, Yamamoto T, Abe H, Shirato S, Kuwayama Y, Mishima HK, Shimizu H, Tomita G, Inoue Y, Kitazawa Y. The prevalence of primary open-angle glaucoma in Japanese: the Tajimi Study. Ophthalmology 2004; 111:1641-8. [PMID: 15350316]
10. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317:1397-400. [PMID: 17690259]
11. Fingert JH, Alward WL, Kwon YH, Wang K, Streb LM, Sheffield VC, Stone EM. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol 2007; 144:974-5. [PMID: 18036875]
12. Challa P, Schmidt S, Liu Y, Qin X, Vann RR, Gonzalez P, Allingham RR, Hauser MA. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol Vis 2008; 14:146-9. [PMID: 18334928]
13. Fan BJ, Pasquale L, Grosskreutz CL, Rhee D, Chen T, Deangelis MM, Kim I, Delbono E, Miller JW, Li T, Haines JL, Wiggs JL. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinicbased population with broad ethnic diversity. BMC Med Genet 2008; 9:5. [PMID: 18254956]
14. Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet 2008; 17:710-6. [PMID: 18037624]
15. Hayashi H, Gotoh N, Ueda Y, Nakanishi H, Yoshimura N. Lysyl Oxidase-like 1 Polymorphisms and Exfoliation Syndrome in the Japanese Population. Am J Ophthalmol 2008; 145:582-5. [PMID: 18201684]
16. Fuse N, Miyazawa A, Nakazawa T, Mengkegale M, Otomo T, Nishida K. Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Mol Vis 2008; 14:1338-43. [PMID: 18648524]
17. Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome. Mol Vis 2008; 14:1303-8. [PMID: 18636115]
18. Mori K, Imai K, Matsuda A, Ikeda Y, Naruse S, Hitora-Takeshita H, Nakano M, Taniguchi T, Omi N, Tashiro K, Kinoshita S. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. Mol Vis 2008; 14:1037-40. [PMID: 18552979]
19. Ozaki M, Lee KY, Vithana EN, Yong VH, Thalamuthu A, Mizoguchi T, Venkatraman A, Aung T. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest Ophthalmol Vis Sci 2008; 49:3976-80. [PMID: 18450598]
20. Tanito M, Minami M, Akahori M, Kaidzu S, Takai Y, Ohira A, Iwata T. LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract. Mol Vis 2008; 14:1898-905. [PMID: 18958304]
21. Chen L, Jia L, Wang N, Tang G, Zhang C, Fan S, Liu W, Meng H, Zeng W, Liu N, Wang H, Jia H. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. Mol Vis 2009; 15:2349-57. [PMID: 19936304]
22. Lemmela S, Forsman E, Onkamo P, Nurmi H, Laivuori H, Kivela T, Puska P, Heger M, Eriksson A, Forsius H, Jarvela I. Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet 2009; 54:289-97. [PMID: 19343041]
23. Williams SE, Whigham BT, Liu Y, Carmichael TR, Qin X, Schmidt S, Ramsay M, Hauser MA, Allingham RR. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. Mol Vis 2010; 16:705-12. [PMID: 20431720]
24. Thomassin L, Werneck CC, Broekelmann TJ, Gleyzal C, Hornstra IK, Mecham RP, Sommer P. The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers. J Biol Chem 2005; 280:42848-55. [PMID: 16251195]
25. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T. Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet 2004; 36:178-82. [PMID: 14745449]
26. Krumbiegel M, Pasutto F, Schlotzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nurnberg P, Kruse FE, Reis A. Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet 2011; 19:186-93. [PMID: 20808326]
27. Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, Peles E. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 1999; 24:1037-47. [PMID: 10624965]
28. Einheber S, Zanazzi G, Ching W, Scherer S, Milner TA, Peles E, Salzer JL. The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination. J Cell Biol 1997; 139:1495-506. [PMID: 9396755]
29. Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006; 354:1370-7. [PMID: 16571880]
30. Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 2009; 85:655-66. [PMID: 19896112]
31. Lemmelä S, Forsman E, Sistonen P, Eriksson A, Forsius H, Jarvela I. Genome-wide scan of exfoliation syndrome. Invest Ophthalmol Vis Sci 2007; 48:4136-42. [PMID: 17724198]
32. Zenkel M, Poschl E, von der Mark K, Hofmann-Rummelt C, Naumann GO, Kruse FE, Schlotzer-Schrehardt U. Differential gene expression in pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci 2005; 46:3742-52. [PMID: 16186358]
33. Poliak S, Salomon D, Elhanany H, Sabanay H, Kiernan B, Pevny L, Stewart CL, Xu X, Chiu SY, Shrager P, Furley AJ, Peles E. Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol 2003; 162:1149-60. [PMID: 12963709]
34. Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008; 82:160-4. [PMID: 18179894]
35. Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008; 82:150-9. [PMID: 18179893]