title: Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus.
abstract: OBJECTIVE
  Despite numerous studies, the causes of keratoconus (KC) remain indefinable. Recently, polymorphisms in the seed region of miR-184 have been identified in familial severe KC and stromal thinning (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning [EDICT]) syndrome. In this study, we conducted genotyping of microRNA genes localized in the reported KC loci, in a well-defined cohort of Greek sporadic KC patients.
  
  
  METHODS
  A case-control panel with 61 KC patients and 120 healthy controls was surveyed. DNA from each individual was genotyped for the rs41280052, located within the pre-miR-184 sequence, and hsa-mir-568 rs149509568 polymorphisms, by allele-specific polymerase chain reaction and direct sequencing.
  
  
  RESULTS
  Regarding rs41280052, no significant association with KC was observed. The T allele of the rs41280052 was present in 5.74% of KC patients and in 8.75% of healthy controls [P = 1.00, odds ratio (OR): 1.82, 95% confidence interval: 0.11-29.66]. However, the minus allele (G) of the rs149509568 polymorphism was found to be overrepresented in KC patients (P = 0.04, odds ratio: 5.08, 95% confidence interval: 0.97-26.61).
  
  
  CONCLUSIONS
  Our results demonstrated a significant association between sporadic KC and hsa-mir-568 rs149509568 polymorphism, suggesting a potential role of the has-mir-568 in KC pathogenesis.
authors: *Department of Ophthalmology, School of Medicine, University of Athens, Athens, Greece; and†Department of Basic Medical Sciences, Laboratory of Biology, School of Medicine, University of Athens, Athens, Greece.
authors: Marilita M
authors: MM
authors: Moschos
authors: Konstantinos
authors: K
authors: Droutsas
authors: Anna
authors: A
authors: Sioziou
authors: Maria
authors: M
authors: Dettoraki
authors: Maria
authors: M
authors: Gazouli
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D060005:Genotyping Techniques; D006115:Greece; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis / Q000235:genetics*; D035683:MicroRNAs / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C534424:MIRN184 microRNA, human; C587996:MIRN568 microRNA, human; D035683:MicroRNAs