Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese

Molecular Vision

Volumn 17, Issue , 2011, Pages 2292-2296

  Zhou, Zhou ^a   Wang, Binbin ^b   Luo, Yongfeng ^a   Zhou, Guangkai ^a   Hu, Shanshan ^a   Zhang, Han ^a   Ma, Xu ^b   Qi, Yanhua ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DNA; MAJOR INTRINSIC PROTEIN; MEMBRANE PROTEIN; THYMINE; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; AGE RELATED CATARACT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CASE CONTROL STUDY; CATARACT; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RISK FACTOR; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL SYSTEM EXAMINATION;

AGED; AGING; ALLELES; AQUAPORINS; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CATARACT; EYE PROTEINS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LENS, CRYSTALLINE; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 80052975045     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Foster A, Resnikoff S. The impact of Vision 2020 on global blindness. Eye (Lond) 2005; 19:1133-5. [PMID: 16304595]
2. Brian G, Taylor H. Cataract blindness-challenges for the 21st century. Bull World Health Organ 2001; 79:249-56. [PMID: 11285671]
3. Tsai SY, Hsu WM, Cheng CY, Liu JH, Chou P. Epidemiologic study of age-related cataracts among an elderly Chinese population in Shih-Pai, Taiwan. Ophthalmology 2003; 110:1089-95. [PMID: 12799231]
4. Nirmalan PK, Krishnadas R, Ramakrishnan R, Thulasiraj RD, Katz J, Tielsch JM, Robin AL. Lens opacities in arural population of southern India: the Aravind Comprehensive Eye Study. Invest Ophthalmol Vis Sci 2003; 44:4639-43. [PMID: 14578379]
5. Krishnaiah S, Vilas K, Shamanna BR, Rao GN, Thomas R, Balasubramanian D. Smoking and its association with cataract: results of the Andhra Pradesh eye disease study from India. Invest Ophthalmol Vis Sci 2005; 46:58-65. [PMID: 15623755]
6. Hammond CJ, Duncan DD, Snieder H, de Lange M, West SK, Spector TD, Gilbert CE. The heritability of age-related cortical cataract: the twin eye study. Invest Ophthalmol Vis Sci 2001; 42:601-5. [PMID: 11222516]
7. Hammond CJ, Sneider H, Spector TD, Gilbert CE. Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins. N Engl J Med 2000; 342:1786-90. [PMID: 10853001]
8. Jun G, Guo H, Klein BE, Klein R, Wang JJ, Mitchell P, Miao H, Lee KE, Joshi T, Buck M, Chugha P, Bardenstein D, Klein AP, Bailey-Wilson JE, Gong X, Spector TD, Andrew T, Hammond CJ, Elston RC, Iyengar SK, Wang B. EPHA2 Is Associated with Age-Related Cortical Cataract in Mice and Humans. PLoS Genet 2009; 5:e1000584. [PMID: 19649315]
9. Liu Y, Ke M, Yan M, Guo S, Mothobi ME, Chen Q, Zheng F. Association between gap junction protein-alpha 8 polymorphisms and age-related cataract. Mol Biol Rep 2011; 38:1301-7. [PMID: 20582632]
10. Karas N, Gobec L, Pfeifer V, Mlinar B, Battelino T, Lukac-Bajalo J. Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract. J Inherit Metab Dis 2003; 26:699-704. [PMID: 14707519]
11. Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner F, Waseem NH, Schorderet D, Munier FL, Bhattacharya SS, Berger W. Kloec kener-Gruissem B Alterations of the untranslated leader region of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci 2010 51 335-461. [PubMed: 14707519]
12. Shi Y, Shi X, Jin Y, Miao A, Bu L, He J, Jiang H, Lu Y, Kong X, Hu L. Mutation screening of HSF4 in 150 age-related cataract patients. Mol Vis 2008; 14:1850-5. [PMID: 18941546]
13. Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka, " in Asians. Am J Hum Genet 2001; 68:1036-42. [PMID: 11231902]
14. Faniello MC, Di Sanzo M, Quaresima B, Nistico A, Fregola A, Grosso M, Cuda G, Costanzo F. Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region. Clin Biochem 2009; 42:911-4. [PMID: 19254706]
15. Padma G, Mamata M, Reddy KR, Padma T. Polymorphisms in two DNA repair genes (XPD and XRCC1)-association with age related cataracts. Mol Vis 2011; 17:127-33. [PMID: 21245954]
16. Bhagyalaxmi SG, Srinivas P, Barton KA, Kumar KR, Vidyavathi M, Petrash JM, Bhanuprakash Reddy G, Padma T. A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. Biochim Biophys Acta 2009; 1792:974-81. [PMID: 19595763]
17. Zhang J, Li J, Huang C, Xue L, Peng Y, Fu Q, Gao L, Zhang J, Li W. Targeted knockout of the mouse betaB2-crystallin gene (Crybb2) induces age-related cataract. Invest Ophthalmol Vis Sci 2008; 49:5476-83. [PMID: 18719080]
18. Juronen E, Tasa G, Veromann S, Parts L, Tiidla A, Pulges R, Panov A, Soovere L, Koka K, Mikelsaar AV. Polymorphic glutathione S-transferases as genetic risk factors for senile cortical cataract in Estonians. Invest Ophthalmol Vis Sci 2000; 41:2262-7. [PMID: 10892871]
19. Güven M, Unal M, Sarici A, Ozaydin A, Batar B, Devranoglu K. Glutathione-S-transferase M1 and T1 genetic polymorphisms and the risk of cataract development: a study in the Turkish population. Curr Eye Res 2007; 32:447-54. [PMID: 17514530]
20. Zhou J, Hu J, Guan H. The Association between Copy Number Variations in Glutathione S-transferase M1 and T1 and Age-Related Cataract in a Han Chinese Population. Invest Ophthalmol Vis Sci 2010; 51:3924-8. [PMID: 20335620]
21. Al-Ghoul KJ, Kirk T, Kuszak AJ, Zoltoski RK, Shiels A, Kuszak JR. Lens structure in MIP-deficient mice. Anat Rec A Discov Mol Cell Evol Biol 2003; 273:714-30. [PMID: 12845708]
22. Chepelinsky AB. Structural Function of MIP/Aquaporin0 in the Eye Lens; Genetic Defects Lead to Congenital Inherited Cataracts. Handb Exp Pharmacol 2009; 190:265-97. [PMID: 19096783]
23. Chylack LT Jr, Wolfe JK, Singer DM, Leske MC, Bullimore MA, Bailey IL, Friend J, McCarthy D, Wu SY. The Lens Opacities Classification System III. Arch Ophthalmol 1993; 111:831-6. [PMID: 8512486]
24. Solé X, Guino E, Valls J, Iniesta R, Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006; 22:1928-9. [PMID: 16720584]
25. Hejtmancik JF, Kantorow M. Molecular genetics of age-related cataract. Exp Eye Res 2004; 79:3-9. [PMID: 15183095]
26. Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Missense mutations in MIP underlie autosomal dominant "polymorphic" and lamellar cataracts linked to 12q. Nat Genet 2000; 25:15-7. [PMID: 10802646]
27. Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet 1996; 12:212-5. [PMID: 8563764]
28. Al-Ghoul KJ, Kirk T, Kuszak AJ, Zoltoski RK, Shiels A, Kuszak JR. Lens structure in MIP-deficient mice. Anat Rec A Discov Mol Cell Evol Biol 2003; 273:714-30. [PMID: 12845708]
29. Yu XS, Jiang JX. Interaction of major intrinsic protein (aquaporin-0) with fiber connexins in lens development. J Cell Sci 2004; 117:871-80. [PMID: 14762116]
30. Fan J, Fariss RN, Purkiss AG, Slingsby C, Sandilands A, Quinlan R, Wistow G, Chepelinsky AB. Specific interaction between lens MIP/Aquaporin-0 and two members of the gamma-crystallin family. Mol Vis 2005; 11:76-87. [PMID: 15692460]
31. Gonen T, Cheng Y, Sliz P, Hiroaki Y, Fujiyoshi Y, Harrison SC, Walz T. Lipid-protein interactions in double-layered twodimensional AQP0 crystals. Nature 2005; 438:633-8. [PMID: 16319884]
32. Takemoto L, Takehana M, Horwitz J. Covalent changes in MIP26K during aging of the human lens membrane. Invest Ophthalmol Vis Sci 1986; 27:443-6. [PMID: 3949474]
33. Korlimbinis A, Berry Y, Thibault D, Schey K, Truscott R. Protein aging: Truncation of aquaporin 0 in human lens regions is a continuous age-dependent process. Exp Eye Res 2009; 88:966-73. [PMID: 19135052]
34. Chatterjee S, Pal JK. Role of and untranslated regions of mRNAs in human diseases. Biol Cell 2009; 101:251-62. [PMID: 19275763]