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Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma

Fan, Bao Jian MD, PhD*; Figuieredo Sena, Dayse R. MD, PhD*; Pasquale, Louis R. MD*; Grosskreutz, Cynthia L. MD, PhD*; Rhee, Douglas J. MD*; Chen, Teresa C. MD*; DelBono, Elizabeth A. MPH*; Haines, Jonathan L. PhD; Wiggs, Janey L. MD, PhD*

doi: 10.1097/IJG.0b013e3181c4b0fe
Original Studies

Purpose To evaluate the elastin gene (ELN) as a secondary risk factor for pseudoexfoliation syndrome (PXFS) and the associated glaucoma pseudoexfoliation glaucoma (PXFG).

Methods One hundred seventy-eight unrelated patients with PXFS, including 132 patients with PXFG, and 113 unrelated controls were recruited from the Massachusetts Eye and Ear Infirmary. All the patients and controls were white of European ancestry. Three tag SNPs (rs2071307, rs3823879, and rs3757587) that capture the majority of alleles in ELN were genotyped. Single-SNP association was analyzed using Fisher exact test. Haplotype analysis and the set-based test were used to assess the association for the whole gene. Interaction analysis was done between the ELN SNP rs2071307 and LOXL1 SNP rs2165241 using logistic regression. Multiple comparisons were corrected using the Bonferroni method.

Results All 3 ELN tag SNPs were not significantly associated with PXFS and PXFG (P>0.20). The minor allele frequencies in PXFS, PXFG, and controls were 40.7%, 39.8%, and 45.6%, respectively for rs2071307, 6.7%, 6.3%, and 5.4% for rs3823879, and 14.8%, 16.2%, and 13.6% for rs3757587. Haplotype analysis and the set-based test did not find significant association of ELN with PXFS (P=0.94 and 0.99, respectively). No significant interaction effects on PXFS were identified between the ELN and LOXL1 SNPs (P=0.55).

Conclusions Our results suggest that common polymorphisms of ELN are not associated with PXFS and PXFG in white populations. Further studies are required to identify secondary genetic factors that contribute to PXFS.

*Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA

Center for Human Genetics Research, Vanderbilt University Medical School, Nashville, TN

Grant Support: In part by National Eye Institute Grants R01 EY015882 and P30 EY014104, Research to Prevent Blindness and The Massachusetts Lions Eye Research Fund.

Commercial Relationship: Nil.

Reprints: Janey L. Wiggs, MD, PhD, Associate Professor of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts 02114 (e-mail:

Received April 29, 2009

Accepted September 26, 2009

© 2010 Lippincott Williams & Wilkins, Inc.