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Cornea. 2012 Jan;31(1):26-35. doi: 10.1097/ICO.0b013e31821c9b8f.

A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability.

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  • 1Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.

Abstract

PURPOSE:

To describe the methods for family and case-control recruitment for a multicenter genetic and associated heritability analyses of Fuchs endothelial corneal dystrophy (FECD).

METHODS:

Twenty-nine enrolling sites with 62 trained investigators and coordinators gathered individual and family information, graded the phenotype, and collected blood and/or saliva for genetic analysis on all individuals with and without FECD. The degree of FECD was assessed in a 0 to 6 semiquantitative scale using standardized clinical methods with pathological verification of FECD on at least 1 member of each family. Central corneal thickness was measured by ultrasonic pachymetry.

RESULTS:

Three hundred twenty-two families with 330 affected sibling pairs with FECD were enrolled and included a total of 650 sibling pairs of all disease grades. Using the entire 7-step FECD grading scale or a dichotomous definition of severe disease, heritability was assessed in families via sib-sib correlations. Both binary indicators of severe disease and semiquantitative measures of disease severity were significantly heritable, with heritability estimates of 30% for severe disease, 37% to 39% for FECD score, and 47% for central corneal thickness.

CONCLUSIONS:

Genetic risk factors have a strong role in the severity of the FECD phenotype and corneal thickness. Genotyping this cohort with high-density genetic markers followed by appropriate statistical analyses should lead to novel loci for disease susceptibility.

PMID:
22045388
[PubMed - indexed for MEDLINE]
PMCID:
PMC3719980
Free PMC Article
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