Common single nucleotide polymorphisms and keratoconus in the Han Chinese population

Ophthalmic Genetics

Volumn 34, Issue 3, 2013, Pages 160-166

  Wang, Yani ^a,b   Jin, Tianbo ^c,d,e   Zhang, Xuehui ^a   Wei, Wei ^a   Cui, Yan ^d,e   Geng, Tingting ^d,e   Liu, Qianping ^d,e   Gao, Jing ^d,e   Liu, Ming ^a,b   Chen, Chao ^c,d   Zhang, Changning ^a   Zhu, Xiuping ^a,b  

^a No 1 Hospital of xi'An   (China)

^b Shaanxi Provincial Key Laboratory of Ophthalmology   (China)

^c NORTHWEST UNIVERSITY   (China)

^d National Engineering Research Center for Miniaturized Detection System   (China)

^e Shaanxi Lifegen Co Ltd   (China)

Author keywords

Case control study; IL1A; Keratoconus; Single nucleotide polymorphism; VSX1

Indexed keywords

ADULT; ARTICLE; CHINESE; CLINICAL EXAMINATION; COMPUTER PROGRAM; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HAPLOTYPE; HUMAN; INFORMATION PROCESSING; KERATOCONUS; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; AUTOANTIGENS; CASE-CONTROL STUDIES; CHINA; COLLAGEN TYPE IV; DNA PRIMERS; EYE PROTEINS; FEMALE; GENOTYPING TECHNIQUES; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; INTERLEUKIN-1ALPHA; INTERLEUKIN-1BETA; KERATOCONUS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; YOUNG ADULT;

EID: 84880380209     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.743569     Document Type: Article

References (27)

1. Romero-Jimenez M, Santodomingo-Rubido J,Wolffsohn JS. Keratoconus: A review. Cont Lens Anterior Eye 2010;33:157-166; quiz 205.
2. Ambekar R, Toussaint Jr. KC, Wagoner Johnson A. The effect of keratoconus on the structural, mechanical, and optical properties of the cornea. J Mech Behav Biomed Mater 2011;4:223-236.
3. Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 1986;101:267-273.
4. Krachmer JH, Feder RS, Belin MW. Keratoconus and related noninflammatory corneal thinning disorders. Surv Ophthalmol 1984;28:293-322.
5. Jhanji V, Sharma N, Vajpayee RB. Management of keratoconus: Current scenario. Br J Ophthalmol 2011;95:1044-1050.
6. Fink BA, Wagner H, Steger-May K, et al. Differences in keratoconus as a function of gender. Am J Ophthalmol 2005;140:459-468.
7. Kok YO, Tan GF, Loon SC. Review: Keratoconus in Asia. Cornea 2012;31:581-593.
8. Pearson AR, Soneji B, Sarvananthan N, et al. Does ethnic origin influence the incidence or severity of keratoconus? Eye (Lond) 2000;14:625-628.
9. Jeoung JW, Kim MK, Park SS, et al. VSX1 gene and keratoconus: Genetic analysis in Korean patients. Cornea 2012;31:746-750.
10. Rabinowitz YS, Maumenee IH, Lundergan MK, et al. Molecular genetic analysis in autosomal dominant keratoconus. Cornea 1992;11:302-308.
11. Tyynismaa H, Sistonen P, Tuupanen S, et al. A locus for autosomal dominant keratoconus: Linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci 2002;43:3160-3164.
12. Brancati F, Valente EM, Sarkozy A, et al. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet 2004;41:188-192.
13. Hutchings H, Ginisty H, Le Gallo M, et al. Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet 2005;42:88-94.
14. Héon E, Greenberg A, Kopp KK, et al. VSX1: A gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002;11:1029-1036.
15. Mok JW, Baek SJ, Joo CK. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. J Hum Genet 2008;53:842-849.
16. Bisceglia L, Ciaschetti M, De Bonis P, et al. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: Detection of a novel mutation. Invest Ophthalmol Vis Sci 2005;46:39-45.
17. Stabuc-Silih M, Ravnik-Glavac M, Glavac D, et al. Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. Mol Vis 2009;15:2848-2860.
18. Kim SH, Mok JW, Kim HS, et al. Association of -31T4C and -511 C4T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients. Mol Vis 2008;14:2109-2116.
19. Aldave AJ, Yellore VS, Salem AK, et al. No VSX1 gene mutations associated with keratoconus. Invest Ophthalmol Vis Sci 2006;47:2820-2822.
20. Tanwar M, Kumar M, Nayak B, et al. VSX1 gene analysis in keratoconus. Mol Vis 2010;16:2395-2401.
21. Gabriel S, Ziaugra L, Tabbaa D. SNP genotyping using the Sequenom MassARRAY iPLEX platform. Curr Protoc Hum Genet 2009;60:2.12.1-2.12.16.
22. Thomas RK, et al. High-throughput oncogene mutation profiling in human cancer. Nat Genet 2007;39:347-351.
23. Adamec C. [Example of the use of the nonparametric test. Test -2 for comparison of 2 independent examples]. Cesk Zdrav 1964;12:613-619.
24. Bland JM, Altman DG. Statistics notes. The odds ratio. BMJ 2000;320:1468.
25. Purcell S, Neale B, Todd-Brown K, et al. PLINK: A tool set for whole-genome association and populationbased linkage analyses. Am J Human Genetics 2007;81: 559-575.
26. Barrett JC, Fry B, Maller J, et al. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-265.
27. Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 2005;15:97-98.