A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 4, 2013, Pages 2911-2917

  Lu, Fang ^a   Shi, Yi ^a   Qu, Chao ^a   Zhao, Peiquan ^b   Liu, Xiaoqi ^a   Gong, Bo ^a   Ma, Shi ^a   Zhou, Yu ^a   Zhang, Qi ^b   Fei, Ping ^b   Xu, Yu ^b   Hu, Jianbin ^a   Fan, Yingchuan ^a   Lin, Ying ^a   Zhu, Xianjun ^a   Yang, Zhenglin ^a  

^a SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Age related macular degeneration; Single nucleotide polymorphism; Skiv2l

Indexed keywords

ADULT; AGED; ALLELE; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GENOTYPING TECHNIQUE; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SUBRETINAL NEOVASCULARIZATION; SUPERKILLER VIRALICIDIC ACTIVITY 2 LIKE GENE;

ALBINISM, OCULOCUTANEOUS; FEMALE; FOVEA CENTRALIS; HUMANS; MALE; NYSTAGMUS, CONGENITAL; REFRACTIVE ERRORS;

EID: 84876879630     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-11381     Document Type: Article

References (42)

1. de Jong PT. Age-related macular degeneration. N Engl J Med. 2006;355:1474-1485.
2. Swaroop A, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet. 2007; 16:R174-R182.
3. Haddad S, Chen CA, Santangelo SL, Seddon JM. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol. 2006;51:316-363.
4. Seddon JM, George S, Rosner B, Klein ML. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2006;61:157-165.
5. Francis PJ, George S, Schultz DW, et al. The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2007;63:212-218.
6. Seddon JM, George S, Rosner B. Cigarette smoking, fish consumption, omega-3 fatty acid intake, and associations with age-related macular degeneration: the US Twin Study of Age- Related Macular Degeneration. Arch Ophthalmol. 2006;124: 995-1001.
7. Hollyfield JG, Bonilha VL, Rayborn ME, et al. Oxidative damage-induced inflammation initiates age-related macular degeneration. Nat Med. 2008;14:194-198.
8. Doyle SL, Campbell M, Ozaki E, et al. NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components. Nat Med. 2012;18:791-798.
9. Weismann D, Hartvigsen K, Lauer N, et al. Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. Nature. 2011;478:76-81.
10. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389.
11. Zareparsi S, Branham KE, Li M, et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet. 2005;77:149-153.
12. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
13. Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H (HF1/ CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A. 2005;102:7227-7232.
14. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science. 2005;308:421-424.
15. Li M, Atmaca-Sonmez P, Othman M, et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet. 2006;38:1049-1054.
16. Maller J, George S, Purcell S, et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet. 2006;38:1055-1059.
17. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314:989-992.
18. Lu F, Hu J, Zhao P, et al. HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population. Vision Res. 2007;47:3120-3123.
19. Lin JM, Wan L, Tsai YY, et al. HTRA1 polymorphism in dry and wet age-related macular degeneration. Retina. 2008;28:309-313.
20. Tam PO, Ng TK, Liu DT, et al. HTRA1 variants in exudative agerelated macular degeneration and interactions with smoking and CFH. Invest Ophthalmol Vis Sci. 2008;49:2357-2365.
21. Yoshida T, DeWan A, Zhang H, et al. HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration. Mol Vis. 2007;13:545-548.
22. Kondo N, Honda S, Ishibashi K, Tsukahara Y, Negi A. LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population. Am J Ophthalmol. 2007;144:608-612.
23. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314:992-993.
24. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38:458-462.
25. Yates JR, Sepp T, Matharu BK, et al.; Genetic Factors in AMD Study Group. Complement C3 variant and the risk of agerelated macular degeneration. N Engl J Med. 2007;357:553-561.
26. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet. 2007;39:1200-1201.
27. Spencer KL, Hauser MA, Olson LM, et al. Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet. 2008;17:971-977.
28. Kaur I, Katta S, Reddy RK, et al. The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2010;51:59-63.
29. Liu X, Zhao P, Tang S, et al. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. Retina. 2010;30:1177-1184.
30. Pei XT, Li XX, Bao YZ, et al. Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a Chinese population. Curr Eye Res. 2009;34:615-622.
31. Kim SJ, Lee SJ, Kim NR, Chin HS. Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population. Exp Eye Res. 2012;96: 42-47.
32. Yanagisawa S, Kondo N, Miki A, et al. A common complement C3 variant is associated with protection against wet age-related macular degeneration in a Japanese population. PLoS One. 2011;6:e28847.
33. McKay GJ, Silvestri G, Patterson CC, Hogg RE, Chakravarthy U, Hughes AE. Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50:533-539.
34. Kopplin LJ, Igo RP Jr, Wang Y, et al. Genome-wide association identifies SKIV2L and MYRIP as protective factors for agerelated macular degeneration. Genes Immun. 2010;11:609-621.
35. Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995;39: 367-374.
36. Lu F, Zhao P, Fan Y, et al. An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population. Mol Vis. 2010;16:1-6.
37. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005; 21:263-265.
38. Spencer KL, Hauser MA, Olson LM, et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007; 16:1986-1992.
39. Nakata I, Yamashiro K, Yamada R, et al. Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population. Invest Ophthalmol Vis Sci. 2012;53:794-798.
40. Lee KY, Vithana EN, Mathur R, et al. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2008;49:2613-2619.
41. Kondo N, Honda S, Kuno S, Negi A. Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology. Ophthalmology. 2009;116:1502-1509.
42. Arakawa S, Takahashi A, Ashikawa K, et al. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet. 2011;43:1001-1004.