A novel mutation of SGK-1 gene in central serous chorioretinopathy

作者：Akyol Mahmut; Erol Muhammet Kazim; Ozdemir Ozdemir^*; Coban Deniz Turgut; Bilgin Ahmet Burak; Sari Esin Sogutlu; Turkoglu Elif Betul

来源：International Journal of Ophthalmology, 2015, 8(1): 23-28.

DOI：10.3980/j.issn.2222-3959.2015.01.04

• central serous chorioretinopathy
• mutation
• polymerase chain reaction
• serum glucocorticoid kinase gene-1

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 amplification. SGK1 gene was sequenced by using BigDye (R) Terminator v3.1 cycle sequencing Kit (Applied Biosystems, Foster City, CA, USA). The SGK-1 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).
CONCLUSION: 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.

• 出版日期2015-2-18