@article {115,
	title = {Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.},
	journal = {PLoS Genet},
	volume = {8},
	year = {2012},
	month = {2012},
	pages = {e1003001},
	abstract = {<p>Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. We identified two different missense mutations in the CAPN5 gene in three ADNIV kindreds. CAPN5 encodes calpain-5, a calcium-activated cysteine protease that is expressed in retinal photoreceptor cells. Both mutations cause mislocalization from the cell membrane to the cytosol, and structural modeling reveals that both mutations lie within a calcium-sensitive domain near the active site. CAPN5 is only the second member of the large calpain gene family to cause a human Mendelian disorder, and this is the first report of a specific molecular cause for autoimmune eye disease. Further investigation of these mutations is likely to provide insight into the pathophysiologic mechanisms of common diseases ranging from autoimmune disorders to diabetic retinopathy.</p>
},
	keywords = {Amino Acid Sequence, Base Sequence, Calpain, Cell Line, Cells, Cultured, Choroid Diseases, Exome, Exons, Eye Diseases, Hereditary, Female, Gene Expression, Genetic Linkage, Humans, Male, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Photoreceptor Cells, Vertebrate, Protein Conformation, Protein Transport, Retinal Degeneration, Sequence Alignment},
	author = {Mahajan, Vinit B and Skeie, Jessica M and Bassuk, Alexander G and Fingert, John H and Braun, Terry A and Daggett, Heather T and Folk, James C and Sheffield, Val C and Stone, Edwin M}
}
@article {175,
	title = {Estrogen receptor alpha and matrix metalloproteinase 2 polymorphisms and age-related maculopathy in older women.},
	journal = {American journal of epidemiology},
	volume = {167},
	year = {2008},
	month = {2008 May 15},
	pages = {1217-25},
	abstract = {<p>In this study, the authors sought to determine whether single nucleotide polymorphisms in the estrogen receptor alpha (ESR1) and matrix metalloproteinase 2 (MMP2) genes are associated with age-related maculopathy (ARM) in older women. Subjects comprised a random sample of Caucasian women aged \&gt; or =74 years participating in the Study of Osteoporotic Fractures year 10 follow-up (n = 906) in 1997-1998. Fundus photographs were graded for ARM using a modification of the Wisconsin Age-Related Maculopathy Grading System. The prevalences of early ARM and late ARM were 46\% and 4\%, respectively. The MMP2 rs2287074 single nucleotide polymorphism (G--\&gt;A) was associated with ARM. The A allele was present in 47\%, 43\%, and 30\% of subjects with no, early, and late ARM, respectively (p = 0.01), and was associated with lower odds of any ARM (for AG vs. GG, odds ratio = 0.80, 95\% confidence interval: 0.65, 0.99; for AA vs. GG, odds ratio = 0.64, 95\% confidence interval: 0.42, 0.98). An interaction with use of postmenopausal hormone therapy was significant (p = 0.02). The MMP2 rs2287074 A allele may be associated with a lower likelihood of ARM in older Caucasian women, particularly those who have never used hormone therapy. The role of MMP2 rs2287074 in ARM should be further elucidated.</p>
},
	keywords = {Aged, Aged, 80 and over, Confounding Factors (Epidemiology), Estrogen Receptor alpha, Estrogen Replacement Therapy, Female, Gene Frequency, Genetic Linkage, Genotype, Humans, Logistic Models, Macular Degeneration, Matrix Metalloproteinase 2, Osteoporosis, Postmenopausal, Pigment Epithelium of Eye, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Severity of Illness Index},
	author = {Seitzman, Robin L and Mahajan, Vinit B and Mangione, Carol and Cauley, Jane A and Ensrud, Kristine E and Stone, Katie L and Cummings, Steven R and Hochberg, Marc C and Hillier, Teresa A and Sinsheimer, Janet S and Yu, Fei and Coleman, Anne L}
}
