title: A novel mutation of sgk-1 gene in central serous chorioretinopathy.
abstract: OBJECTIVE
  To investigate the association of serum glucocorticoid kinase gene-1 (SGK-1) DNA variants with chronic central serous chorioretinopathy (CSC).
  
  
  METHODS
  We enrolled 32 eyes of 32 patients who were diagnosed with chronic CSC and composed 32 normal eyes as a control group. Peripheral blood was used for DNA extraction and polymerase chain reaction (PCR) amplification. SGK1 gene was sequenced by using BigDye(®) Terminator v3.1 cycle sequencing KIT (Applied Biosystems, Foster City, CA, USA). The SGK1 gene and its variants were investigated in CSC patient group and control group.
  
  
  RESULTS
  We identified a new polymorphism M32V in two person in the patient group (Minor allele frequency (MAF)=0.009) on the region of 1-60 amino acids. The rs1057293 was located in the encoder region of the SGK 1 gene but not associated with CSC (P=0.68). An intrinsic rs1743966 is also not associated (P=0.28).
  
  
  CONCLUSIONS
  The new polymorphism M32V is located on the region of 1-60 amino acids which is necessary for localization to the mitochondria in CSC patient. This mutation is probably important for the energy metabolism and plays an important role in the cellular response to hyperosmotic stress and other stress stimuli. Both rs1057293 and rs1743966 are not associated with CSC.
authors.affiliation: Human Gene and Cell Therapy Centre, Akdeniz University Faculty of Medicine, 07070, Antalya, Turkey.
authors.forename: Mahmut
authors.initials: M
authors.lastname: Akyol
authors.affiliation: Department of Ophthalmology, Antalya Education and Research Hospital, Antalya 07125, Turkey.
authors.forename: Muhammet Kazım
authors.initials: MK
authors.lastname: Erol
authors.affiliation: Department of Ophthalmology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara 06100, Turkey.
authors.forename: Ozdemir
authors.initials: O
authors.lastname: Ozdemir
authors.affiliation: Department of Ophthalmology, Antalya Education and Research Hospital, Antalya 07125, Turkey.
authors.forename: Deniz Turgut
authors.initials: DT
authors.lastname: Coban
authors.affiliation: Department of Ophthalmology, Akdeniz University Faculty of Medicine, Antalya 07070, Turkey.
authors.forename: Ahmet Burak
authors.initials: AB
authors.lastname: Bilgin
authors.affiliation: Department of Ophthalmology, Balıkesir University Faculty of Medicine, Balıkesir 10145, Turkey.
authors.forename: Esin Sogutlu
authors.initials: ES
authors.lastname: Sari
authors.affiliation: Department of Ophthalmology, Akdeniz University Faculty of Medicine, Antalya 07070, Turkey.
authors.forename: Elif Betul
authors.initials: EB
authors.lastname: Turkoglu
keywords: SGK-1; central serous chorioretinopathy; mutation; polymerase chain reaction; serum glucocorticoid kinase gene