Mahmut Akyol1, Muhammet Kazım Erol2, Ozdemir Ozdemir3, Deniz Turgut Coban2, Ahmet Burak Bilgin4, Esin Sogutlu Sari5, Elif Betul Turkoglu4. 1. Human Gene and Cell Therapy Centre, Akdeniz University Faculty of Medicine, 07070, Antalya, Turkey. 2. Department of Ophthalmology, Antalya Education and Research Hospital, Antalya 07125, Turkey. 3. Department of Ophthalmology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara 06100, Turkey. 4. Department of Ophthalmology, Akdeniz University Faculty of Medicine, Antalya 07070, Turkey. 5. Department of Ophthalmology, Balıkesir University Faculty of Medicine, Balıkesir 10145, Turkey.
Abstract
AIM: 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.
AIM: 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: Oliver Borst; Eva-Maria Schmidt; Patrick Münzer; Tanja Schönberger; Syeda T Towhid; Margitta Elvers; Christina Leibrock; Evi Schmid; Anja Eylenstein; Dietmar Kuhl; Andreas E May; Meinrad Gawaz; Florian Lang Journal: Blood Date: 2011-10-26 Impact factor: 22.113
Authors: A D Rao; B Sun; A Saxena; P N Hopkins; X Jeunemaitre; N J Brown; G K Adler; J S Williams Journal: J Hum Hypertens Date: 2012-05-31 Impact factor: 3.012