title: Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.
abstract: OBJECTIVE
  Fuchs endothelial corneal dystrophy (FECD) is a genetically heterogeneous disorder that has been primarily studied in patients of European or Asian ancestry. Given the sparse literature on African Americans with FECD, we sought to characterize the genetic variation in three known FECD candidate genes in African American patients with FECD.
  
  
  METHODS
  Over an 8-year period, we enrolled 47 African American probands with FECD. All participants were clinically examined with slit-lamp biomicroscopy, and when corneal tissue specimens were available, histopathologic confirmation of the clinical diagnosis was obtained. The coding regions of known FECD susceptibility genes collagen, type VIII, alpha 2 (COL8A2); solute carrier family 4, sodium borate transporter, member 11 (SLC4A11); and zinc finger E-box binding homeobox 1 (ZEB1 [also known as TCF8]) were Sanger sequenced in the 47 probands using DNA isolated from blood samples.
  
  
  RESULTS
  Twenty-two coding variants were detected across the COL8A2, SLC4A11, and ZEB1 genes; six were nonsynonymous variants. Three novel coding variants were detected: a synonymous variant each in COL8A2 and SLC4A11 and one nonsynonymous variant in ZEB1 (p.P559S), which is predicted to be benign and tolerated, thus making its physiologic consequence uncertain.
  
  
  CONCLUSIONS
  Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of our African American cases and as such does not appear to significantly contribute to the genetic risk of FECD in African Americans. This observation is on par with findings from previous sequencing studies involving European or Asian ancestry patients with FECD.
authors.affiliation: Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC.
authors.forename: Mollie A
authors.initials: MA
authors.lastname: Minear
authors.affiliation: Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC ; Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, NC.
authors.forename: Yi-Ju
authors.initials: YJ
authors.lastname: Li
authors.affiliation: Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Rimmler
authors.affiliation: Duke Eye Center, Duke University Medical Center, Durham, NC.
authors.forename: Elmer
authors.initials: E
authors.lastname: Balajonda
authors.affiliation: Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC.
authors.forename: Shera
authors.initials: S
authors.lastname: Watson
authors.affiliation: Duke Eye Center, Duke University Medical Center, Durham, NC.
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
authors.affiliation: Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.affiliation: Duke Eye Center, Duke University Medical Center, Durham, NC ; Department of Pathology, Duke University Medical Center, Durham, NC.
authors.forename: Gordon K
authors.initials: GK
authors.lastname: Klintworth
authors.affiliation: Shiley Eye Center, University of California San Diego, La Jolla, CA.
authors.forename: Natalie A
authors.initials: NA
authors.lastname: Afshari
authors.affiliation: Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC.
authors.forename: Simon G
authors.initials: SG
authors.lastname: Gregory
mesh_terms: D000328:Adult; D001741:Black or African American; D000368:Aged; D000369:Aged, 80 and over; D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D024102:Collagen Type VIII / Q000235:genetics*; D003315:Cornea / Q000378:metabolism / Q000473:pathology; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D015870:Gene Expression; D005820:Genetic Testing; D014644:Genetic Variation; D005838:Genotype; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012306:Risk; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*; D000071799:Zinc Finger E-box-Binding Homeobox 1
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; C443712:COL8A2 protein, human; D024102:Collagen Type VIII; D018398:Homeodomain Proteins; C425809:SLC4A11 protein, human; D014157:Transcription Factors; C486307:ZEB1 protein, human; D000071799:Zinc Finger E-box-Binding Homeobox 1