Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis
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  • 作者：Weihong Yu ; Shuqian Dong ; Chuntao Zhao ; Haina Wang ; Fei Dai…
  • 关键词：Macular degeneration ; Polymorphism ; Meta ; analysis ; Gene ; cluster analysis
  • 刊名：Molecular Biology Reports
  • 出版年：2013
  • 出版时间：October 2013
  • 年：2013
  • 卷：40
  • 期：10
  • 页码：5551-5561
  • 全文大小：292KB
  • 参考文献：1. Pascolini D, Mariotti SP, Pokharel GP, Pararajasegaram R, Etya’ale D, Negrel AD, Resnikoff S (2004) 2002 global update of available data on visual impairment: a compilation of population-based prevalence studies. Ophthalmic Epidemiol 11(2):67-15 CrossRef
    2. Resnikoff S, Pascolini D, Etya’ale D, Kocur I, Pararajasegaram R, Pokharel GP, Mariotti SP et al (2004) Global data on visual impairment in the year 2002. Bull World Health Organ 82(11):844-51. doi::/S0042-96862004001100009
    3. Friedman DS, O’Colmain BJ, Munoz B, Tomany SC, McCarty C, de Jong PT, Nemesure B, Mitchell P, Kempen J (2004) Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 122(4):564-72. doi:10.1001/archopht.122.4.564 CrossRef
    4. Cheung CM, Tai ES, Kawasaki R, Tay WT, Lee JL, Hamzah H, Wong TY (2012) Prevalence of and risk factors for age-related macular degeneration in a multiethnic Asian cohort. Arch Ophthalmol 130(4):480-86. doi:10.1001/archophthalmol.2011.376 CrossRef
    5. Congdon N, O’Colmain B, Klaver CC, Klein R, Munoz B, Friedman DS, Kempen J, Taylor HR, Mitchell P (2004) Causes and prevalence of visual impairment among adults in the United States. Arch Ophthalmol 122(4):477-85. doi:10.1001/archopht.122.4.477 CrossRef
    6. Jager RD, Mieler WF, Miller JW (2008) Age-related macular degeneration. N Engl J Med 358(24):2606-617. doi:10.1056/NEJMra0801537 CrossRef
    7. VanNewkirk MR, Nanjan MB, Wang JJ, Mitchell P, Taylor HR, McCarty CA (2000) The prevalence of age-related maculopathy: the visual impairment project. Ophthalmology 107(8):1593-600 CrossRef
    8. Thornton J, Edwards R, Mitchell P, Harrison RA, Buchan I, Kelly SP (2005) Smoking and age-related macular degeneration: a review of association. Eye (Lond) 19(9):935-44. doi:10.1038/sj.eye.6701978 CrossRef
    9. Adams MK, Simpson JA, Aung KZ, Makeyeva GA, Giles GG, English DR, Hopper J, Guymer RH, Baird PN, Robman LD (2011) Abdominal obesity and age-related macular degeneration. Am J Epidemiol 173(11):1246-255. doi:10.1093/aje/kwr005 CrossRef
    10. Klein R, Peto T, Bird A, Vannewkirk MR (2004) The epidemiology of age-related macular degeneration. Am J Ophthalmol 137(3):486-95. doi:10.1016/j.ajo.2003.11.069 CrossRef
    11. Bressler SB, Munoz B, Solomon SD, West SK (2008) Racial differences in the prevalence of age-related macular degeneration: the Salisbury Eye Evaluation (SEE) Project. Arch Ophthalmol 126(2):241-45. doi:10.1001/archophthalmol.2007.53 CrossRef
    12. 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 (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308(5720):385-89. doi:10.1126/science.1109557 CrossRef
    13. Thakkinstian A, Han P, McEvoy M, Smith W, Hoh J, Magnusson K, Zhang K, Attia J (2006) Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet 15(18):2784-790. doi:10.1093/hmg/ddl220 CrossRef
    14. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308(5720):421-24. doi:10.1126/science.1110189 CrossRef
    15. 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 (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308(5720):419-21. doi:10.1126/science.1110359 CrossRef
    16. Shaw PX, Zhang L, Zhang M, Du H, Zhao L, Lee C, Grob S, Lim SL, Hughes G, Lee J, Bedell M, Nelson MH, Lu F, Krupa M, Luo J, Ouyang H, Tu Z, Su Z, Zhu J, Wei X, Feng Z, Duan Y, Yang Z, Ferreyra H, Bartsch DU, Kozak I, Lin F, Sun H, Feng H, Zhang K (2012) Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids. Proc Natl Acad Sci USA 109(34):13757-3762. doi:10.1073/pnas.1121309109 CrossRef
    17. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH (2005) 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 14(21):3227-236. doi:10.1093/hmg/ddi353 CrossRef
    18. Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 104(41):16227-6232. doi:10.1073/pnas.0703933104 CrossRef
    19. 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 (2006) A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314(5801):992-93. doi:10.1126/science.1133811 CrossRef
    20. 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 (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314(5801):989-92. doi:10.1126/science.1133807 CrossRef
    21. Tong Y, Liao J, Zhang Y, Zhou J, Zhang H, Mao M (2010) LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: a HuGE review and meta-analysis. Mol Vis 16:1958-981
    22. Vierkotten S, Muether PS, Fauser S (2011) Overexpression of HTRA1 leads to ultrastructural changes in the elastic layer of Bruch’s membrane via cleavage of extracellular matrix components. PLoS One 6(8):e22959. doi:10.1371/journal.pone.0022959 CrossRef
    23. Borenstein M (2009) Introduction to meta-analysis. Wiley, Chichester CrossRef
    24. Fisher RA (1932) Statistical methods for research workers. In: Biological monographs and manuals, 5th edn. Oliver and Boyd, Edinburgh
    25. Simes RJ (1986) An improved Bonferroni procedure for multiple tests of significance. Biometrika 73(3):751-54 CrossRef
    26. Zaykin DV, Zhivotovsky LA, Westfall PH, Weir BS (2002) Truncated product method for combining / P-values. Genet Epidemiol 22(2):170-85. doi:10.1002/gepi.0042 CrossRef
    27. Sheng X, Yang J (2012) Truncated product methods for panel unit root tests. Oxf Bull Econ Stat. doi:10.1111/j.1468-0084.2012.00705.x
    28. Moher D, Cook DJ, Eastwood S, Olkin I, Rennie D, Stroup DF (1999) Improving the quality of reports of meta-analyses of randomised controlled trials: the QUOROM statement. Quality of reporting of meta-analyses. Lancet 354(9193):1896-900 CrossRef
    29. Liang XY, Lai TY, Liu DT, Fan AH, Chen LJ, Tam PO, Chiang SW, Ng TK, Lam DS, Pang CP (2012) Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus. Invest Ophthalmol Vis Sci 53(6):3175-182. doi:10.1167/iovs.11-8135 CrossRef
    30. Teper SJ, Nowinska A, Wylegala E (2012) A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report. Med Sci Monit 18(2):PR1-3 CrossRef
    31. Gotoh N, Yamashiro K, Nakanishi H, Saito M, Iida T, Yoshimura N (2010) Haplotype analysis of the ARMS2/HTRA1 region in Japanese patients with typical neovascular age-related macular degeneration or polypoidal choroidal vasculopathy. Jpn J Ophthalmol 54(6):609-14. doi:10.1007/s10384-010-0865-2 CrossRef
    32. Richardson AJ, Islam FM, Aung KZ, Guymer RH, Baird PN (2010) An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration. Invest Ophthalmol Vis Sci 51(10):4932-936. doi:10.1167/iovs.09-5114 CrossRef
    33. 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, 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, Corton 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 (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 107(16):7401-406. doi:10.1073/pnas.0912702107 CrossRef
    34. Wang G, Spencer KL, Scott WK, Whitehead P, Court BL, Ayala-Haedo J, Mayo P, Schwartz SG, Kovach JL, Gallins P, Polk M, Agarwal A, Postel EA, Haines JL, Pericak-Vance MA (2010) Analysis of the indel at the ARMS2 3′UTR in age-related macular degeneration. Hum Genet 127(5):595-02. doi:10.1007/s00439-010-0805-8 CrossRef
    35. 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 (2009) Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. J Ocul Biol Dis Inform 2(4):164-75. doi:10.1007/s12177-009-9047-1 CrossRef
    36. 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, Campochiaro B, Constantine R, Zack DJ, Campochiaro P, Fu Y, Li DY, Katsanis N, Zhang K (2010) Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet 6(2):e1000836. doi:10.1371/journal.pgen.1000836 CrossRef
    37. Ricci F, Zampatti S, D’Abbruzzi F, Missiroli F, Martone C, Lepre T, Pietrangeli I, Sinibaldi C, Peconi C, Novelli G, Giardina E (2009) Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population. Arch Ophthalmol 127(10):1368-372. doi:10.1001/archophthalmol.2009.237 CrossRef
    38. Gotoh N, Nakanishi H, Hayashi H, Yamada R, Otani A, Tsujikawa A, Yamashiro K, Tamura H, Saito M, Saito K, Iida T, Matsuda F, Yoshimura N (2009) ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. Am J Ophthalmol 147(6):1037-041. doi:10.1016/j.ajo.2008.12.036 e1031-032 CrossRef
    39. Bergeron-Sawitzke J, Gold B, Olsh A, Schlotterbeck S, Lemon K, Visvanathan K, Allikmets R, Dean M (2009) Multilocus analysis of age-related macular degeneration. Eur J Hum Genet 17(9):1190-199. doi:10.1038/ejhg.2009.23 CrossRef
    40. Zhang H, Morrison MA, Dewan A, Adams S, Andreoli M, Huynh N, Regan M, Brown A, Miller JW, Kim IK, Hoh J, Deangelis MM (2008) The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet 9:51. doi:10.1186/1471-2350-9-51 CrossRef
    41. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 40(7):892-96. doi:10.1038/ng.170 CrossRef
    42. Kaur I, Katta S, Hussain A, Hussain N, Mathai A, Narayanan R, Reddy RK, Majji AB, Das T, Chakrabarti S (2008) Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Invest Ophthalmol Vis Sci 49(5):1771-776. doi:10.1167/iovs.07-0560 CrossRef
    43. Tam PO, Ng TK, Liu DT, Chan WM, Chiang SW, Chen LJ, DeWan A, Hoh J, Lam DS, Pang CP (2008) HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. Invest Ophthalmol Vis Sci 49(6):2357-365. doi:10.1167/iovs.07-1520 CrossRef
    44. Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A Jr, Miller JW, Dryja TP, Ott J, Kim IK (2008) Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology 115(7):1209-215. doi:10.1016/j.ophtha.2007.10.032 e1207 CrossRef
    45. Leveziel N, Souied EH, Richard F, Barbu V, Zourdani A, Morineau G, Zerbib J, Coscas G, Soubrane G, Benlian P (2007) / PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. Mol Vis 13:2153-159
    46. Fisher SA, Rivera A, Fritsche LG, Babadjanova G, Petrov S, Weber BH (2007) Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. Br J Ophthalmol 91(5):576-78. doi:10.1136/bjo.2006.105577 CrossRef
    47. Kanda A, Stambolian D, Chen W, Curcio CA, Abecasis GR, Swaroop A (2010) Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol Vis 16:1317-323
    48. International HapMap Consortium. (2003) The International HapMap Project. Nature 426(6968):789-96. doi:10.1038/nature02168 CrossRef
    49. Cheng Y, Huang L, Li X, Zhou P, Zeng W, Zhang C (2013) Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy. PLoS One 8(1):e53665. doi:10.1371/journal.pone.0053665 CrossRef
    50. Liu MM, Agron E, Chew E, Meyerle C, Ferris FL 3rd, Chan CC, Tuo J (2011) Copy number variations in candidate genes in neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci 52(6):3129-135. doi:10.1167/iovs.10-6735 CrossRef
    51. Park JH, Lee S, Yu HG, Kim JI, Seo JS (2012) Copy number variation of age-related macular degeneration relevant genes in the Korean population. PLoS One 7(2):e31243. doi:10.1371/journal.pone.0031243 CrossRef
  • 作者单位：Weihong Yu (1)
    Shuqian Dong (2)
    Chuntao Zhao (3)
    Haina Wang (4)
    Fei Dai (5)
    Jingyun Yang (6)

    1. Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China
    2. Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China
    3. Department of Developmental Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA
    4. College of Pharmaceutical Sciences, Shandong University, Jinan, Shandong, China
    5. Division of Gastroenterology, Second Affiliated Hospital, Medical College of Xi’an Jiaotong University, Xi’an, China
    6. The Methodology Center, Pennsylvania State University, 204 E. Calder Way, Suite 400, State College, University Park, PA, 16801, USA
  • ISSN：1573-4978
文摘
The objective of this study is to examine the cumulative effect of the less studied genetic variants in PLEKHA1/ARMS2/HTRA1 on age-related macular degeneration (AMD). We performed an extensive literature search for studies on the association between AMD and the less studied genetic variants in PLEKHA1/ARMS2/HTRA1. Multiple meta-analyses were performed to evaluate the association between individual genetic variants and AMD. A gene-cluster analysis was used to investigate the cumulative effect of these less studied genetic variants on AMD. A total of 23 studies from 20 published papers met the eligibility criteria and were included in our analyses. Several genetic variants in the gene cluster are significantly associated with AMD in our meta-analyses or in individual studies. Gene-cluster analysis reveals a strong cumulative association between these genetic variants in this gene cluster and AMD (p?<?10?). However, two previously suspected SNPs in ARMS2, including rs2736911, the SNP having the largest number of studies in our meta-analyses; and rs3793917, the SNP with the largest sample size, were not significantly associated with AMD (both p’s?>?0.12). Sensitivity analyses reveal significant association of AMD with rs2736911 in Chinese but not in Caucasian, with c.372_815del443ins54 in Caucasian but not in Chinese, and with rs1049331 in both ethnic groups. These less studied genetic variants have a significant cumulative effect on wet AMD. Our study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to AMD risk, in addition to the two widely studied genetic variants whose association with AMD was well established.

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