Joseph Caprioli

Dr. Joseph Caprioli


Research Focus & Metrics

Academic Career Length

48Years (1979-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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1 September 2004 in Ophthalmology
Verified
Journal Article
Closed access
KNKouros Nouri-Mahdavi
Kouros Nouri-Mahdavi
DHDouglas Hoffman
Douglas Hoffman
ACAnne L. Coleman
Anne L. Coleman
GLGang Liu
Gang Liu
DGDouglas Gaasterland
Douglas Gaasterland
JCJoseph Caprioli
Joseph Caprioli

1 January 2004 in American Journal of Ophthalmology
Verified
Journal Article
Closed access
GJGlenn J. Jaffe
Glenn J. Jaffe
JCJoseph Caprioli
Joseph Caprioli

1 July 2008 in Ophthalmology
Verified
Journal Article
Closed access
JCJoseph Caprioli
Joseph Caprioli
ACAnne L. Coleman
Anne L. Coleman

26 April 2012 in PLOS Genetics
Verified
Journal Article
Open access
PDF file
JWJaney L. Wiggs
Janey L. Wiggs
BYBrian L. Yaspan
Brian L. Yaspan
MHMichael A. Hauser
Michael A. Hauser
JKJae H. Kang
Jae H. Kang
RAR. Rand Allingham
R. Rand Allingham
JHJonathan L. Haines
Jonathan L. Haines
Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. We have performed a meta-analysis of two independent genome-wide association studies for primary open angle glaucoma (POAG) followed by a normal-pressure glaucoma (NPG, defined by intraocular pressure (IOP) less than 22 mmHg) subgroup analysis. The single-nucleotide polymorphisms that showed the most significant associations were tested for association with a second form of glaucoma, exfoliation-syndrome glaucoma. The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 controls) identified significant associations between two loci and POAG: the CDKN2BAS region on 9p21 (rs2157719 [G], OR = 0.69 [95%CI 0.63–0.75], p = 1.86×10−18), and the SIX1/SIX6 region on chromosome 14q23 (rs10483727 [A], OR = 1.32 [95%CI 1.21–1.43], p = 3.87×10−11). In sub-group analysis two loci were significantly associated with NPG: 9p21 containing the CDKN2BAS gene (rs2157719 [G], OR = 0.58 [95% CI 0.50–0.67], p = 1.17×10−12) and a probable regulatory region on 8q22 (rs284489 [G], OR = 0.62 [95% CI 0.53–0.72], p = 8.88×10−10). Both NPG loci were also nominally associated with a second type of glaucoma, exfoliation syndrome glaucoma (rs2157719 [G], OR = 0.59 [95% CI 0.41–0.87], p = 0.004 and rs284489 [G], OR = 0.76 [95% CI 0.54–1.06], p = 0.021), suggesting that these loci might contribute more generally to optic nerve degeneration in glaucoma. Because both loci influence transforming growth factor beta (TGF-beta) signaling, we performed a genomic pathway analysis that showed an association between the TGF-beta pathway and NPG (permuted p = 0.009). These results suggest that neuro-protective therapies targeting TGF-beta signaling could be effective for multiple forms of glaucoma. Loss of vision from glaucoma, a common cause of blindness worldwide, is due to irreversible damage to the optic nerve. Current therapies cannot prevent glaucoma-related optic nerve disease and very little is known about the underlying responsible molecular events. Glaucoma patients affected by the “normal-pressure” subtype of glaucoma (NPG) have increased susceptibility to optic nerve degeneration. Although NPG has a high heritability, common predisposing genetic variants have not been identified. Therefore, we performed a meta-analysis of two independent genome-wide association studies for a common form of glaucoma, primary open angle glaucoma (POAG), followed by NPG subgroup analysis. We found that SNPs in the CDKN2BAS gene region on 9p21 and a highly conserved region with a probable regulatory function on 8q22 were associated with NPG and with optic nerve disease in a second type of glaucoma, exfoliation glaucoma. Both genomic regions are predicted to influence TGF-beta activity, and using whole-genome data we showed that the TGF-beta signaling pathway overall is associated with NPG. These results reveal new insights into the molecular pathogenesis of optic nerve disease in glaucoma and are an important step toward the development of preventative and protective therapies.

1 May 2010 in American Journal of Ophthalmology
Verified
Journal Article
Closed access
JCJoseph Caprioli
Joseph Caprioli
ACAnne L. Coleman
Anne L. Coleman

1 December 2003 in American Journal of Ophthalmology
Verified
Journal Article
Closed access
KNKouros Nouri-Mahdavi
Kouros Nouri-Mahdavi
JCJoseph Caprioli
Joseph Caprioli