ArticleInternational journal of ophthalmology2015
A novel mutation of sgk-1 gene in central serous chorioretinopathy.
Article in International journal of ophthalmology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Multi-Polymorphism Analysis Reveals Joint Effects in Males With Chronic Central Serous Chorioretinopathy.Investigative ophthalmology & visual science · 2023Article
- The Genetic Background of Central Serous Chorioretinopathy: A Review on Central Serous Chorioretinopathy Genes.Journal of genomics · 2021Review
- Macular ganglion cell complex thickness in acute and chronic central serous chorioretinopathy.International ophthalmology · 2017Article
- Is the unaffected eye really unaffected? Color Doppler ultrasound findings in unilaterally active central serous chorioretinopathy.Journal of medical ultrasonics (2001) · 2017Article
- Neutrophil/lymphocyte ratio and mean platelet volume in central serous chorioretinopathy.Therapeutics and clinical risk management · 2017Article
- Evaluation of nailfold videocapillaroscopy in central serous chorioretinopathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate the association of serum glucocorticoid kinase gene-1 (SGK-1) DNA variants with chronic central serous chorioretinopathy (CSC).
methodsWe 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.
resultsWe 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).
conclusionsThe 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.
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