Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma

BMC Medical Genomics

Volumn 9, Issue 1, 2016, Pages

  Vishal, Mansi ^a,b   Sharma, Anchal ^b,c   Kaurani, Lalit ^b   Alfano, Giovanna ^d   Mookherjee, Suddhasil ^a   Narta, Kiran ^b,c   Agrawal, Jyoti ^b   Bhattacharya, Iman ^e   Roychoudhury, Susanta ^a   Ray, Jharna ^f   Waseem, Naushin H ^d   Bhattacharya, Shomi S ^d   Basu, Analabha ^g   Sen, Abhijit ^h   Ray, Kunal ^a,c   Mukhopadhyay, Arijit ^b,c,d  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^c ACADEMY OF SCIENTIFIC AND INNOVATIVE RESEARCH ACSIR   (India)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e Premas Biotech Pvt Ltd   (India)

^f UNIVERSITY OF CALCUTTA   (India)

^g NATIONAL INSTITUTE OF BIOMEDICAL GENOMICS   (India)

^h Dristi Pradip   (India)

Author keywords

GEO; GWA; HTM; IOP; LD; MPP7; POAG; SNP

Indexed keywords

ADULT; ANIMAL TISSUE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DOWN REGULATION; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MAJOR CLINICAL STUDY; MOUSE; MPP7 GENE; NONHUMAN; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STRESS; TRABECULAR MESHWORK; VALIDATION STUDY; WESTERN BLOTTING; ANIMAL; C57BL MOUSE; CILIARY BODY; FLUORESCENT ANTIBODY TECHNIQUE; GENE LOCUS; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; INDIA; MECHANICAL STRESS; METABOLISM; PATHOLOGY; REPRODUCIBILITY;

MEMBRANE PROTEIN; MPP7 PROTEIN, HUMAN;

ANIMALS; CILIARY BODY; COHORT STUDIES; DOWN-REGULATION; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GLAUCOMA, OPEN-ANGLE; HUMANS; INDIA; MEMBRANE PROTEINS; MICE, INBRED C57BL; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; STRESS, MECHANICAL; TRABECULAR MESHWORK;

EID: 84962436304     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/s12920-016-0177-6     Document Type: Article

References (37)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90(3):262-7.
2. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol. 1996;80(5):389-93.
3. Janssen SF, Gorgels TG, Ramdas WD, Klaver CC, van Duijn CM, Jansonius NM, et al. The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology. Prog Retin Eye Res. 2013;37:31-67.
4. Sommer A, Tielsch JM, Katz J, Quigley HA, Gottsch JD, Javitt J, et al. Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye Survey. Arch Ophthalmol. 1991;109(8):1090-5.
5. Maier PC, Funk J, Schwarzer G, Antes G, Falck-Ytter YT. Treatment of ocular hypertension and open angle glaucoma: meta-analysis of randomised controlled trials. BMJ. 2005;331(7509):134.
6. McKinnon SJ, Goldberg LD, Peeples P, Walt JG, Bramley TJ. Current management of glaucoma and the need for complete therapy. Am J Manage Care. 2008;14(1 Suppl):S20-7.
7. Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet. 1999;8(12):2221-8.
8. Hogewind BF, Gaplovska-Kysela K, Theelen T, Cremers FP, Yam GH, Hoyng CB, et al. Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands. Mol Vis. 2007;13:1793-801.
9. Chen Y, Lin Y, Vithana EN, Jia L, Zuo X, Wong TY, et al. Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. Nat Genet. 2014;46(10):1115-9.
10. Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014;46(10):1120-5.
11. Vishal M, Sharma A, Kaurani L, Chakraborty S, Ray J, Sen A, et al. Evaluation of genetic association of the INK4 locus with primary open angle glaucoma in East Indian population. Sci Rep. 2014;4:5115.
12. Rao KN, Kaur I, Chakrabarti S. Lack of association of three primary open-angle glaucoma-susceptible loci with primary glaucomas in an Indian population. Proc Natl Acad Sci U S A. 2009;106(44):E125-6. author reply E7.
13. Banerjee D, Banerjee A, Mookherjee S, Vishal M, Mukhopadhyay A, Sen A, et al. Mitochondrial genome analysis of primary open angle glaucoma patients. PloS One. 2013;8(8), e70760.
14. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-75.
15. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genetic Epidemiol. 2010;34(8):816-34.
16. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics (Oxford, England). 2010;26(17):2190-1.
17. Turner SD, qqman: an R package for visualizing GWAS results using Q-Q and manhattan plots. biorXiv. 2014. DOI: 10.1101/005165.
18. Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, Gliedt TP et al. LocusZoom: Regional visualization of genome-wide association scan results. Bioinformatics. 2010;26(18):2336-37.
19. Stucke VM, Timmerman E, Vandekerckhove J, Gevaert K, Hall A. The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation. Mol Biol Cell. 2007;18(5):1744-55.
20. Bohl J, Brimer N, Lyons C, Vande Pol SB. The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions. J Biol Chem. 2007;282(13):9392-400.
21. Raviola G. The structural basis of the blood-ocular barriers. Exp Eye Res. 1977;25(Suppl):27-63.
22. Lutjen-Drecoll E, Kruse FE. Primary open angle glaucoma. Morphological bases for the understanding of the pathogenesis and effects of antiglaucomatic substances. Ophthalmologe. 2007;104(2):167-78. quiz 79.
23. Prata TS, Navajas EV, Melo Jr LA, Martins JR, Nader HB, Belfort Jr R. Aqueous humor protein concentration in patients with primary open-angle glaucoma under clinical treatment. Arq Bras Oftalmol. 2007;70(2):217-20.
24. Duan X, Xue P, Wang N, Dong Z, Lu Q, Yang F. Proteomic analysis of aqueous humor from patients with primary open angle glaucoma. Mol Vision. 2010;16:2839-46.
25. Bhattacharya SK, Rockwood EJ, Smith SD, Bonilha VL, Crabb JS, Kuchtey RW, et al. Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork. J Biol Chem. 2005;280(7):6080-4.
26. Leske MC, Heijl A, Hussein M, Bengtsson B, Hyman L, Komaroff E. Factors for glaucoma progression and the effect of treatment: the early manifest glaucoma trial. Arch Ophthalmol. 2003;121(1):48-56.
27. Lerner N, Beit-Yannai E. Cross-talk between ciliary epithelium and trabecular meshwork cells in-vitro: a new insight into glaucoma. PloS One. 2014;9(11):e112259.
28. Ramos RF, Stamer WD. Effects of cyclic intraocular pressure on conventional outflow facility. Investig Ophthalmol Vis Sci. 2008;49(1):275-81.
29. Luna C, Li G, Liton PB, Epstein DL, Gonzalez P. Alterations in gene expression induced by cyclic mechanical stress in trabecular meshwork cells. Mol Vis. 2009;15:534-44.
30. Yang X, Liu B, Bai Y, Chen M, Li Y, et al. Elevated pressure downregulates ZO-1 expression and disrupts cytoskeleton and focal adhesion in human trabecular meshwork cells. Mol Vis. 2011;17:2978-85.
31. Bulgakova NA, Knust E. The Crumbs complex: from epithelial-cell polarity to retinal degeneration. J Cell Sci. 2009;122(Pt 15):2587-96.
32. Xiao SM, Kung AW, Gao Y, Lau KS, Ma A, Zhang ZL, et al. Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density. Hum Mol Genet. 2012;21(7):1648-57.
33. Evidence mounts that MPP7 is a susceptibility gene for osteoporosis. BoneKEy reports. 2012;1:33.
34. Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, et al. Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. J Hum Genet. 2012;57(3):191-6.
35. Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, et al. Clinical significance of de novo and inherited copy-number variation. Hum Mutat. 2013;34(12):1679-87.
36. Aartsen WM, Kantardzhieva A, Klooster J, van Rossum AG, van de Pavert SA, Versteeg I, et al. Mpp4 recruits Psd95 and Veli3 towards the photoreceptor synapse. Hum Mol Genet. 2006;15(8):1291-302.
37. Zheng CY, Seabold GK, Horak M, Petralia RS. MAGUKs, synaptic development, and synaptic plasticity. Neuroscientist. 2011;17(5):493-512.