Difference between age-related macular degeneration and polypoidal choroidal vasculopathy in the hereditary contribution of the A69S variant of the age-related maculopathy susceptibility 2 gene (ARMS2)

Molecular Vision

Volumn 17, Issue , 2011, Pages 3574-3582

  Yanagisawa, Suiho ^a   Kondo, Naoshi ^a   Miki, Akiko ^a   Matsumiya, Wataru ^a   Kusuhara, Sentaro ^a   Tsukahara, Yasutomo ^a   Honda, Shigeru ^a   Negi, Akira ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARMS2 GENE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; META ANALYSIS; PHENOTYPE; POLYPOIDAL CHOROIDAL VASCULOPATHY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULOPATHY; RISK FACTOR;

AGED; AGED, 80 AND OVER; ALLELES; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHOROID; CHOROIDAL NEOVASCULARIZATION; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MOLECULAR TYPING; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RETINA; RISK FACTORS;

EID: 84856204679     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (58)

1. Jager RD, Mieler WF, Miller JW. Age-related macular degeneration. N Engl J Med 2008; 358:2606-17. [PMID: 18550876]
2. Klein R, Klein BE, Linton KL. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology 1992; 99:933-43. [PMID: 1630784]
3. Mitchell P, Smith W, Attebo K, Wang JJ. Prevalence of agerelated maculopathy in Australia. The Blue Mountains Eye Study. Ophthalmology 1995; 102:1450-60. [PMID: 9097791]
4. Oshima Y, Ishibashi T, Murata T, Tahara Y, Kiyohara Y, Kubota T. Prevalence of age related maculopathy in a representative Japanese population: the Hisayama study. Br J Ophthalmol 2001; 85:1153-7. [PMID: 11567955]
5. Kawasaki R, Yasuda M, Song SJ, Chen SJ, Jonas JB, Wang JJ, Mitchell P, Wong TY. The prevalence of age-related macular degeneration in Asians: a systematic review and metaanalysis. Ophthalmology 2010; 117:921-7. [PMID: 20110127]
6. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science 2005; 308:385-9. [PMID: 15761122]
7. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science 2005; 308:421-4. [PMID: 15761121]
8. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA. Complement factor H variant increases the risk of agerelated macular degeneration. Science 2005; 308:419-21. [PMID: 15761120]
9. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet 2005; 14:3227-36. [PMID: 16174643]
10. Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 2006; 314:989-92. [PMID: 17053108]
11. Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, Chen H, Zhao Y, Pearson E, Li X, Chien J, Dewan A, Harmon J, Bernstein PS, Shridhar V, Zabriskie NA, Hoh J, Howes K, Zhang K. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 2006; 314:992-3. [PMID: 17053109]
12. Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT, Genetic Factors in AMD Study Group. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 2007; 357:553-61. [PMID: 17634448]
13. Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, AMD Genetics Clinical Study Group. Hageman GS, Dean M, Allikmets R. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 2006; 38:458-62. [PMID: 16518403]
14. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet 2009; 17:100-4. [PMID: 18685559]
15. Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM. Genome-wide association study of advanced agerelated macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci USA 2010; 107:7395-400. [PMID: 20385826]
16. Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL, Complications of Age-Related Macular Degeneration Prevention Trial Research Group. Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 2010; 107:7401-6. [PMID: 20385819]
17. Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, Tan PL, Souied EH, Richardson AJ, Merriam JE, Buitendijk GH, Reynolds R, Raychaudhuri S, Chin KA, Sobrin L, Evangelou E, Lee PH, Lee AY, Leveziel N, Zack DJ, Campochiaro B, Campochiaro P, Smith RT, Barile GR, Guymer RH, Hogg R, Chakravarthy U, Robman LD, Gustafsson O, Sigurdsson H, Ortmann W, Behrens TW, Stefansson K, Uitterlinden AG, van Duijn CM, Vingerling JR, Klaver CC, Allikmets R, Brantley MA Jr, Baird PN, Katsanis N, Thorsteinsdottir U, Ioannidis JP, Daly MJ, Graham RR, Seddon JM. Common Variants near FRK/COL10A1 and VEGFA are Associated with Advanced Age-related Macular Degeneration. Hum Mol Genet 2011; 20:3699-709. [PMID: 21665990]
18. Imamura Y, Engelbert M, Iida T, Freund KB, Yannuzzi LA. Polypoidal choroidal vasculopathy: a review. Surv Ophthalmol 2010; 55:501-15. [PMID: 20850857]
19. Takahashi K, Ishibashi T, Ogur Y, Yuzawa M, Working Group for Establishing Diagnostic Criteria for Age-Related Macular Degeneration. Classification and diagnostic criteria of agerelated macular degeneration. Nippon Ganka Gakkai Zasshi 2008; 112:1076-84. [PMID: 19157028]
20. Maruko I, Iida T, Saito M, Nagayama D, Saito K. Clinical characteristics of exudative age-related macular degeneration in Japanese patients. Am J Ophthalmol 2007; 144:15-22. [PMID: 17509509]
21. Liu Y, Wen F, Huang S, Luo G, Yan H, Sun Z, Wu D. Subtype lesions of neovascular age-related macular degeneration in Chinese patients. Graefes Arch Clin Exp Ophthalmol 2007; 245:1441-5. [PMID: 17406882]
22. Ciardella AP, Donsoff IM, Huang SJ, Costa DL, Yannuzzi LA. Polypoidal choroidal vasculopathy. Surv Ophthalmol 2004; 49:25-37. [PMID: 14711438]
23. Kikuchi M, Nakamura M, Ishikawa K, Suzuki T, Nishihara H, Yamakoshi T, Nishio K, Taki K, Niwa T, Hamajima N, Terasaki H. Elevated C-reactive protein levels in patients with polypoidal choroidal vasculopathy and patients with neovascular age-related macular degeneration. Ophthalmology 2007; 114:1722-7. [PMID: 17400294]
24. Tong JP, Chan WM, Liu DT, Lai TY, Choy KW, Pang CP, Lam DS. Aqueous humor levels of vascular endothelial growth factor and pigment epithelium-derived factor in polypoidal choroidal vasculopathy and choroidal neovascularization. Am J Ophthalmol 2006; 141:456-62. [PMID: 16490490]
25. Nakashizuka H, Mitsumata M, Okisaka S, Shimada H, Kawamura A, Mori R, Yuzawa M. Clinicopathologic findings in polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 2008; 49:4729-37. [PMID: 18586873]
26. Honda S, Imai H, Yamashiro K, Kurimoto Y, Kanamori-Matsui N, Kagotani Y, Tamura Y, Yamamoto H, Ohoto S, Takagi H, Uenishi M, Negi A. Comparative assessment of photodynamic therapy for typical age-related macular degeneration and polypoidal choroidal vasculopathy: a multicenter study in Hyogo prefecture, Japan. Ophthalmologica 2009; 223:333-8. [PMID: 19478533]
27. Yuzawa M, Mori R, Kawamura A. The origins of polypoidal choroidal vasculopathy. Br J Ophthalmol 2005; 89:602-7. [PMID: 15834093]
28. 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; 144:608-12. [PMID: 17692272]
29. Goto A, Akahori M, Okamoto H, Minami M, Terauchi N, Haruhata Y, Obazawa M, Noda T, Honda M, Mizota A, Tanaka M, Hayashi T, Tanito M, Ogata N, Iwata T. Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. J Ocul Biol Dis Infor 2009; 2:164-75. [PMID: 20157352]
30. Hayashi H, Yamashiro K, Gotoh N, Nakanishi H, Nakata I, Tsujikawa A, Otani A, Saito M, Iida T, Matsuo K, Tajima K, Yamada R, Yoshimura N. CFH and ARMS2 variations in agerelated macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Invest Ophthalmol Vis Sci 2010; 51:5914-9. [PMID: 20574013]
31. Fuse N, Mengkegale M, Miyazawa A, Abe T, Nakazawa T, Wakusawa R, Nishida K. Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with agerelated macular degeneration. Am J Ophthalmol 2011; 151:550-6. [PMID: 21236409]
32. Sobrin L, Reynolds R, Yu Y, Fagerness J, Leveziel N, Bernstein PS, Souied EH, Daly MJ, Seddon JM. ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. Am J Ophthalmol 2011; 151:345-52. [PMID: 21122828]
33. Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH, IBSEN Study Group. Mathew CG, Schreiber S. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 2008; 40:1319-23. [PMID: 18836448]
34. Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, Donn R, Symmons D, Hider S, Bruce IN, Wellcome Trust Case Control Consortium. Wilson AG, Marinou I, Morgan A, Emery P. YEAR Consortium; Carter A, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Strachan D, Worthington J. Rheumatoid arthritis association at 6q23. Nat Genet 2007; 39:1431-3. [PMID: 17982455]
35. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, Jonsson GF, Jakobsdottir M, Bergthorsson JT, Gudmundsson J, Aben KK, Strobbe LJ, Swinkels DW, van Engelenburg KC, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Saez B, Lambea J, Godino J, Polo E, Tres A, Picelli S, Rantala J, Margolin S, Jonsson T, Sigurdsson H, Jonsdottir T, Hrafnkelsson J, Johannsson J, Sveinsson T, Myrdal G, Grimsson HN, Sveinsdottir SG, Alexiusdottir K, Saemundsdottir J, Sigurdsson A, Kostic J, Gudmundsson L, Kristjansson K, Masson G, Fackenthal JD, Adebamowo C, Ogundiran T, Olopade OI, Haiman CA, Lindblom A, Mayordomo JI, Kiemeney LA, Gulcher JR, Rafnar T, Thorsteinsdottir U, Johannsson OT, Kong A, Stefansson K. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2008; 40:703-6. [PMID: 18438407]
36. Goode EL, Chenevix-Trench G, Song H, Ramus SJ, Notaridou M, Lawrenson K, Widschwendter M, Vierkant RA, Larson MC, Kjaer SK, Birrer MJ, Berchuck A, Schildkraut J, Tomlinson I, Kiemeney LA, Cook LS, Gronwald J, Garcia-Closas M, Gore ME, Campbell I, Whittemore AS, Sutphen R, Phelan C, Anton-Culver H, Pearce CL, Lambrechts D, Rossing MA, Chang-Claude J, Moysich KB, Goodman MT, Dörk T, Nevanlinna H, Ness RB, Rafnar T, Hogdall C, Hogdall E, Fridley BL, Cunningham JM, Sieh W, McGuire V, Godwin AK, Cramer DW, Hernandez D, Levine D, Lu K, Iversen ES, Palmieri RT, Houlston R, van Altena AM, Aben KK, Massuger LF, Brooks-Wilson A, Kelemen LE, Le ND, Jakubowska A, Lubinski J, Medrek K, Stafford A, Easton DF, Tyrer J, Bolton KL, Harrington P, Eccles D, Chen A, Molina AN, Davila BN, Arango H, Tsai YY, Chen Z, Risch HA, McLaughlin J, Narod SA, Ziogas A, Brewster W, Gentry-Maharaj A, Menon U, Wu AH, Stram DO, Pike MC, Wellcome Trust Case-Control Consortium; Beesley J, Webb PM, Australian Cancer Study (Ovarian Cancer); Australian Ovarian Cancer Study Group; Ovarian Cancer Association Consortium (OCAC); Chen X, Ekici AB, Thiel FC, Beckmann MW, Yang H, Wentzensen N, Lissowska J, Fasching PA, Despierre E, Amant F, Vergote I, Doherty J, Hein R, Wang-Gohrke S, Lurie G, Carney ME, Thompson PJ, Runnebaum I, Hillemanns P, Dürst M, Antonenkova N, Bogdanova N, Leminen A, Butzow R, Heikkinen T, Stefansson K, Sulem P, Besenbacher S, Sellers TA, Gayther SA, Pharoah PD, Ovarian Cancer Association Consortium (OCAC). A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 2010; 42:874-9. [PMID: 20852632]
37. Study Group of Millennium Genome Project for Cancer. Sakamoto H, Yoshimura K, Saeki N, Katai H, Shimoda T, Matsuno Y, Saito D, Sugimura H, Tanioka F, Kato S, Matsukura N, Matsuda N, Nakamura T, Hyodo I, Nishina T, Yasui W, Hirose H, Hayashi M, Toshiro E, Ohnami S, Sekine A, Sato Y, Totsuka H, Ando M, Takemura R, Takahashi Y, Ohdaira M, Aoki K, Honmyo I, Chiku S, Aoyagi K, Sasaki H, Ohnami S, Yanagihara K, Yoon KA, Kook MC, Lee YS, Park SR, Kim CG, Choi IJ, Yoshida T, Nakamura Y, Hirohashi S. Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer. Nat Genet 2008; 40:730-40. [PMID: 18488030]
38. Chen W, Xu W, Tao Q, Liu J, Li X, Gan X, Hu H, Lu Y. Metaanalysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration. Exp Eye Res 2009; 89:292-300. [PMID: 19026638]
39. Tang NP, Zhou B, Wang B, Yu RB. HTRA1 promoter polymorphism and risk of age-related macular degeneration: a meta-analysis. Ann Epidemiol 2009; 19:740-5. [PMID: 19375943]
40. Tong Y, Liao J, Zhang Y, Zhou J, Zhang H, Mao M. LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis. Mol Vis 2010; 16:1958-81. [PMID: 21031019]
41. Kondo N, Honda S, Kuno S, Negi A. Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy. Ophthalmology 2009; 116:304-10. [PMID: 19187823]
42. 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; 116:1502-9. [PMID: 19556007]
43. Seddon JM, Sharma S, Adelman RA. Evaluation of the clinical age-related maculopathy staging system. Ophthalmology 2006; 113:260-6. [PMID: 16458093]
44. Wigginton JE, Cutler DJ, Abecasis GR. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 2005; 76:887-93. [PMID: 15789306]
45. Zhang XJ, Huang W, Yang S, Sun LD, Zhang FY, Zhu QX, Zhang FR, Zhang C, Du WH, Pu XM, Li H, Xiao FL, Wang ZX, Cui Y, Hao F, Zheng J, Yang XQ, Cheng H, He CD, Liu XM, Xu LM, Zheng HF, Zhang SM, Zhang JZ, Wang HY, Cheng YL, Ji BH, Fang QY, Li YZ, Zhou FS, Han JW, Quan C, Chen B, Liu JL, Lin D, Fan L, Zhang AP, Liu SX, Yang CJ, Wang PG, Zhou WM, Lin GS, Wu WD, Fan X, Gao M, Yang BQ, Lu WS, Zhang Z, Zhu KJ, Shen SK, Li M, Zhang XY, Cao TT, Ren W, Zhang X, He J, Tang XF, Lu S, Yang JQ, Zhang L, Wang DN, Yuan F, Yin XY, Huang HJ, Wang HF, Lin XY, Liu JJ. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 2009; 41:205-10. [PMID: 19169255]
46. Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 1959; 22:719-48. [PMID: 13655060]
47. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986; 7:177-88. [PMID: 3802833]
48. Whittemore AS. Estimating attributable risk from case-control studies. Am J Epidemiol 1983; 117:76-85. [PMID: 6823955]
49. Ioannidis JP, Patsopoulos NA, Evangelou E. Heterogeneity in meta-analyses of genome-wide association investigations. PLoS ONE 2007; 2:e841. [PMID: 17786212]
50. Higgins JP, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ 2003; 327:557-60. [PMID: 12958120]
51. Sakurada Y, Kubota T, Mabuchi F, Imasawa M, Tanabe N, Iijima H. Association of LOC387715 A69S with vitreous hemorrhage in polypoidal choroidal vasculopathy. Am J Ophthalmol 2008; 145:1058-62. [PMID: 18400199]
52. Lee KY, Vithana EN, Mathur R, Yong VH, Yeo IY, Thalamuthu A, Lee MW, Koh AH, Lim MC, How AC, Wong DW, Aung T. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 2008; 49:2613-9. [PMID: 18515590]
53. Hardy J, Singleton A, Gwinn-Hardy K. Ethnic differences and disease phenotypes. Science 2003; 300:739-40. [PMID: 12730580]
54. Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 2007; 104:16227-32. [PMID: 17884985]
55. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 2008; 40:892-6. [PMID: 18511946]
56. Kanda A, Stambolian D, Chen W, Curcio CA, Abecasis GR, Swaroop A. Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol Vis 2010; 16:1317-23. [PMID: 20664794]
57. Yang Z, Tong Z, Chen Y, Zeng J, Lu F, Sun X, Zhao C, Wang K, Davey L, Chen H, London N, Muramatsu D, Salasar F, Carmona R, Kasuga D, Wang X, Bedell M, Dixie M, Zhao P, Yang R, Gibbs D, Liu X, Li Y, Li C, Li Y, Campochiaro B, Constantine R, Zack DJ, Campochiaro P, Fu Y, Li DY, Katsanis N, Zhang K. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet 2010; 6:e1000836. [PMID: 20140183]
58. Friedrich U, Myers CA, Fritsche LG, Milenkovich A, Wolf A, Corbo JC, Weber BH. Risk-and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Hum Mol Genet 2011; 20:1387-99. [PMID: 21252205]