A Multicenter Study to Map Genes for Fuchs Endothelial Corneal Dystrophy: Baseline Characteristics and Heritability

作者：Louttit Megan D; Kopplin Laura J; Igo Robert P Jr; Fondran Jeremy R; Tagliaferri Angela; Bardenstein David; Aldave Anthony J; Croasdale Christopher R; Price Marianne O; Rosenwasser George O; Lass Jonathan H; Iyengar Sudha K^*

来源：Cornea, 2012, 31(1): 26-35.

DOI：10.1097/ICO.0b013e31821c9b8f

• heritability
• Fuchs dystrophy
• corneal thickness
• genetics

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). %26lt;br%26gt;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. %26lt;br%26gt;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. %26lt;br%26gt;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.

• 出版日期2012-1