Purpose To evaluate the association and interaction of five single-nucleotide polymorphisms (SNPs) in three genes (CFH, ARMS2, and ARMS2/HTRA1) with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in Chinese population. Methods A total of 300 nAMD and 300 PCV patients and 301 normal subjects participated in the present study. The allelic variants of rs800292, rs2274700, rs3750847, rs3793917, and rs1065489 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Gene-gene interactions were evaluated by the data mining approach multifactor-dimensionality reduction (MDR) method. Results The risk alleles of CFH rs800292, rs2274700, ARMS2 rs3057847, and ARMS2/ HTRA1 rs3793917 showed significant difference between nAMD or PCV patients and controls (all Po0.01). The homozygosity of risk alleles for rs800292, rs2274700, rs3750847, and rs3793917 were significantly different between nAMD patients and controls (all Po0.01), and predisposed to PCV patients (all Po0.01). After cross-validation consistency (CVC) and permutation tests, the two-locus model rs2274700_rs3750847 has a balanced accuracy of 64.37% in predicting nAMD disease risk. The one-marker model, rs3750847, and two-locus model rs2274700_rs3750847 has a balanced accuracy of 66.07% and 65.89% in predicting PCV disease risk, respectively. Furthermore, CFH rs1065489 did not show significant association with nAMD (P40.01), but was strongly associated with PCV in Chinese patients (Po0.001).Conclusions In this study, we found that the interaction of ARMS2 and ARMS2/HTRA1 is significantly associated with nAMD, and the interaction of CFH and ARMS2 is pronounced in PCV development in Chinese population.

Introduction Narcolepsy is a chronic sleep disorder that can affects significantly patient functioning, involving social, work, and affective life. At present, many drugs have been developed to treat narcolepsy efficiently. But there is no Chinese version of Narcolepsy Severity Scale (NSS) available yet, for that the aim of this study is to translate the NSS into Chinese and evaluate reliability and validity of the NSS in adult patients with narcolepsy type 1 (NT1). Methods NSS was translated according to the standard procedures of double-back translation and cross-cultural adaptation steps. The NSS was administered to 62 adult patients (42 males, 20 females; mean age 34 years; range 19 to 67 years) with NT1 from April 2019 to December 2019. The validity of the scale was assessed by the exploratory factor analysis, discriminant validity and convergent validity. The reliability was assessed by the Cronbach’s α coefficient and test-retest reliability. Results Three common factors were extracted and 15 items explained 57.4% of the total variance. Cronbach’s α coefficient for total scale was 0.767 and Cronbach’s α for three dimensions ranged from 0.729 to 0.787. Scores were significant difference between treated and untreated group in dependent samples (p=0.036), but no differences in the independent samples (p>0.05). The NSS had good correlations with Epworth Sleepiness Scale (r=0.302, p=0.017) and Insomnia Severity Index (r=0.526, p=0.000). The NSS showed good test-retest reliability (r=0.72, p=0.029). Conclusion The Chinese version of NSS was proved to be valid and reliable and can be used to evaluate the severity and consequences of symptoms in Chinese adult patients with NT1. Support

Introduction Narcolepsy type 1 (NT1) is considered to be an autoimmune disease, and streptococcal infection may be an environmental trigger. However, previous studies from Asian narcolepsy patients did not reveal elevated anti-streptolysin O [ASO]. The aim is to investigate whether large sample Chinese patients with NT1 have an increase in antistreptococcal antibody titers. Methods A total of 214 narcolepsy patients and 360 healthy controls were recruited. All patients were DQB1*0602 positive with clear-cut cataplexy or had low CSF hypocretin-1. Participants were tested for ASO and anti DNAse B [ADB]. These patients were divided into five groups according to disease duration, including 29 patients less than 3 months; 25 from 3 months to 1 year; 40 from 1 to 3 years; 61 from 3 to 10 years and 59 patients over 10 years. Comparison was also made between children and adults with age matched controls, respectively. Results There were no significant differences between patients and healthy controls in regard to both ASO ≥ 200 IU (19.2% vs. 16.9%, p = 0.50) and ADB≥480IU (9.8% vs. 10.3%, p = 0.86). For children narcolepsy patients, ASO positive rates(19.8% vs. 18%, p = 0.68) and ADB positive rates(10.4% vs. 12%, p = 0.72) had no differences compared to age matched controls. And no difference was observed in adult narcolepsy patients either, with ASO positive rates (18.5% vs. 13.8%, p = 0.39) and ADB positive rates (9.3% vs. 5.3%, p = 0.42) compared to age matched controls, respectively. ASO (ADB) positive rates had no significant differences among different disease duration groups(p= 0.55, 0.9). Conclusion It is indicated that positive rates of ASO and ADB were not significantly different between Chinese patients with NT1 and healthy controls, including recent onset cases and children. Support The study was supported by the National Natural Science Foundation of China (No. 81420108002 and NO. 81570083)