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Genome-Wide Association Study to Identify a New Susceptibility Locus for Central Serous Chorioretinopathy in the Japanese Population
摘要： PURPOSE. Central serous chorioretinopathy (CSC) is a retinal disorder that often affects the vision of middle-aged people yet the molecular mechanisms of CSC remain unknown. This study was conducted to identify genetic factors influencing individual differences in susceptibility to CSC. METHODS. A two-stage genome-wide association study (GWAS) was conducted with a total of 320 unrelated Japanese idiopathic CSC cases and 3245 population-based controls. In a discovery stage, 137 unrelated Japanese idiopathic CSC cases and 1174 population-based controls were subjected to GWAS, followed by a replication study using an additional 183 individuals with idiopathic CSC and 2071 population-based volunteers. The results of the discovery and replication stages were combined to conduct a meta-analysis. RESULTS. In the two-stage GWAS, rs11865049 located at SLC7A5 in chromosome 16q24.2 was identified as a novel disease susceptibility locus for CSC, as evident from the discovery and replication results using meta-analysis (combined P = 9.71 × 10^-9, odds ratio = 2.10). CONCLUSIONS. The results of the present study demonstrated that SLC7A5 might be the potential candidate gene associated with CSC, indicating a previously unidentified molecular mechanism of CSC.
关键词： Japanese,genome-wide association study,central serous chorioretinopathy,SLC7A5
更新于2025-09-23 15:23:52
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Optical examination of the efficacy of contact needle therapy for chemotherapy-induced peripheral neuropathy: integration of inspection in Kampo therapy with color spectrum information
摘要： Cancer chemotherapy-induced peripheral neuropathy (CIPN) deteriorates the patient’s quality of life, often resulting in discontinuation of treatment with potentially effective chemotherapy. Contact needle therapy (CNT) is one of the traditional Japanese acupuncture methods based on the concept of Kampo (Japanese traditional) medicine. CNT on CIPN has been considered effective empirically, but an objective evaluation has proven difficult. We have focused on the oxygen saturation besides the symptom score. We have already proposed optical path-length matrix method (OPLM) for estimating oxygen saturation of the skin, which may help in locating peripheral tissue damage, including neuronal damage. Four patients with CIPN were treated with CNT. The severity of CIPN was evaluated using the Common Terminology Criteria for Adverse Events (CTCAE) ver. 4 and FACT/GOG-Ntx before and after CNT. We also measured oxygen saturation and hemoglobin concentration at the right toe-tip. Correlations among the values were calculated as correlation coefficients. There were significantly improvements in FACT/GOG-Ntx and hemoglobin post-CNT than in pre-CNT (p < 0.05). The oxygen saturation showed broad correlation (0.5 < |r| < 1) with hemoglobin. The oxygen saturation of skin reflects tissue injury and blood stagnation status, and can help in objective evaluation by measuring skin color spectrum. CNT might be considered as one of the safe and effective alternative therapeutic options for CIPN. Our method of evaluation using skin color spectrum information integrates, in a sense, the inspection in Kampo (Japanese traditional medicine) therapy and scientific methodology.
关键词： Oxygen saturation,Acupuncture,Contact needle therapy (CNT),Skin color spectrum,Japanese traditional (Kampo) medicine,Chemotherapy-induced peripheral neuropathy (CIPN)
更新于2025-09-23 15:19:57