Variations in TIMP3 are associated with age-related macular degeneration | Zendy

Inderjeet Kaur | Zendy; Sonika Rathi | Zendy; Subhabrata Chakrabarti | Zendy

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Variations in TIMP3 are associated with age-related macular degeneration

Author(s) -

Inderjeet Kaur,

Sonika Rathi,

Subhabrata Chakrabarti

Publication year - 2010

Publication title -

proceedings of the national academy of sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.011

H-Index - 771

eISSN - 1091-6490

pISSN - 0027-8424

DOI - 10.1073/pnas.1007476107

Subject(s) - anxiety , social anxiety , psychology , anxiety disorder , macular degeneration , clinical psychology , anti anxiety agents , psychiatry , medicine

Extracellular matrix (ECM) remodeling and degradation have been associated with atrophic changes in the retinal pigment epithelium (RPE) and Bruch's membrane, leading to macular dystrophy. In the paper based on a genome-wide association study (GWAS), Chen et al. (1) discovered a single-nucleotide polymorphism (SNP) located ≈100 kb upstream of TIMP3 that influenced the susceptibility to age-related macular degeneration (AMD) in very large and diverse cohorts. In an ongoing parallel effort, we undertook screening of 11 candidate genes involved in ECM turnover and degradation, namely fibulin 5 (FBLN5), fibulin 6 (FBLN6), decorin (DCN), lumican (LUM), epiphycan (EPYC), MMP1, MMP2, MMP3, MMP9, TIMP2, and TIMP3 to understand their involvement in a previously diagnosed cohort of …

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