Mitochondrial haplogroup L1c2 is associated with increased disease severity in African American patients with primary open-angle glaucoma.

Autor:	Cui QN; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Ramakrishnan MS; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Gudiseva HV; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Collins DW; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Pistilli M; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Lee R; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Chavali VM; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Lehman A; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., Addis VM; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA., O'Brien JM; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA.
Jazyk:	angličtina
Zdroj:	Journal of clinical & experimental ophthalmology [J Clin Exp Ophthalmol] 2019; Vol. 10 (2). Date of Electronic Publication: 2019 Apr 18.
DOI:	10.4172/2155-9570.1000799
Abstrakt:	Objective: The purpose of this study is to evaluate the role mitochondrial inheritance plays in primary open-angle glaucoma (POAG) characteristics in African Americans. Methods: POAG cases from the L1c2 and L1b mitochondrial haplogroups were compared in a retrospective case-case study. Twenty-six pairs of self-identified African American POAG cases from L1c2 and L1b mitochondrial haplogroups matched on age (mean [SD] = 71.2 [9.6] and 71.3 [9.6] years, respectively; p = 0.97), sex (21 female and 5 male pairs), and family history of glaucoma (positive in 15/26 [58%] pairs) were included. Results: L1c2 subjects displayed higher vertical cup-to-disc ratio (0.75 [0.12] and 0.67 [0.16], respectively; p = 0.01, Bonferroni-corrected p = 0.08), worse pattern standard deviation on visual field (VF) testing (5.5 [3.5] and 3.5 [2.7]; p = 0.005, Bonferroni-corrected p = 0.02), and more severe glaucoma based on American Glaucoma Society staging criteria ( p = 0.04, Bonferroni-corrected p = 0.32) compared to L1b subjects. L1c2 also trended towards worse mean deviation on VF compared to L1b (-8.2 [7.6] and -5.8 [6.8], respectively, p = 0.17). Best corrected visual acuity, central corneal thickness, maximum intraocular pressure (IOP), and cataract severity were comparable between L1c2 and L1b haplogroups ( p ≥ 0.49), as was retinal nerve fiber layer thickness on optical coherence tomography (75.1 [14.1] and 75.1 [13.0]; p = 0.99). Conclusion: Results demonstrated worse glaucomatous cupping and more severe VF loss in the L1c2 compared to the L1b haplogroup despite comparable IOP. Findings implicate mitochondrial inheritance as a factor affecting POAG severity and may ultimately contribute to stratifying POAG patients into phenotypically and genotypically distinct subgroups. Competing Interests: No conflicting commercial relationship exists for any author.
Databáze:	MEDLINE
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