PTPN22 polymorphisms,but not R620W,were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population

ObjectivesThe present study aimed to detect a possible association between PTPN22 gene polymorphisms and rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Chinese Han population.Methods7 PTPN22 SNPs were genotyped in 358 patients with RA and 713 patients with SLE, as well as 564 RA controls and 672 SLE controls by Restriction Fragment Length Polymorphism (RFLP). Association analyses were conducted on the whole data set. Significant relationships were also examined between clinical features and SNPs for both RA and SLE.ResultsRs2476601 was lack of polymorphism with a ⩽0.1% frequency in both SLE and RA patients and healthy controls in our study. The two SNPs rs1217414 and rs3811021 of PTPN22 shown strong association with both SLE (rs1217414T: p_adj = 6.07e−004, OR = 0.57; rs3811021C: p_adj = 4.68e−005, OR = 0.65) and RA (rs1217414T: p_adj = 2.01e−008, OR = 0.26; rs3811021C: p_adj = 0.028, OR = 0.70). And the rs3765598 revealed a strong risk factor for SLE (p = 9.38e−009, p_adj = 6.57e−008, OR = 1.93), but not for RA (p = 0.48, OR = 1.12). Moreover, protective haplotype ACTTC in RA (p = 7.73e−016, p_adj = 5.51−015, OR[95%CI] = 0.02[0.002–0.10]) and SLE (p = 8.29e−018, p_adj = 5.80e−017, OR[95%CI] = 0.11[0.06–0.21]) were observed. In addition, the distribution of risk haplotypes ACGTC and GCTTT in RA (ACGTC: p = 0.0006, p_adj = 0.004, OR[95%CI] = 1.85[1.29–2.63]; GCTTT: p = 2.62e−005, p_adj = 1.85e−004, OR[95%CI] = 2.40[1.57–3.65]) and SLE (ACGTC: p = 0.0006, p_adj = 0.004, OR[95%CI] = 1.85[1.29–2.63]; ACGTC: p = 7.74e−011, p_adj = 6.81e−010, OR[95%CI] = 2.21[1.12–3.34]; GCTTT: p = 2.40[1.57–3.65], p_adj = 2.26e−006, OR[95%CI] = 2.64[1.79–3.87]) were significant different from that in controls. Furthermore, significant association was observed between the PTPN22 rs3765598 and antinuclear antibodies 1 (ANA1) in SLE.ConclusionsOur data provide strong evidence that the rs1217414 and rs3811021 in PTPN22 gene might be common protective factors contributed to SLE and RA susceptibility in the Chinese Han population. While, the rs3765598 might increase the genetic susceptibility of SLE, but not RA.     

从马王堆汉墓出土香物探讨楚地香文化及其医学运用

本文通过对马王堆汉墓出土香物,展开对该时期楚地用香的文化意义及医学运用的探讨。楚地香文化历史“从上古矣”,马王堆汉墓处在植物类香料使用的鼎盛时期。其香料运用有祭祀、礼制、卫生、医学等方面,其中重点通过环境医学、社会医学及临床医学三部分对楚地香文化的医学运用进行讨论。     

兰州汉族青少年骨强度指数特点及其影响因素分析

目的调查分析兰州汉族青少年跟骨骨强度指数(bone strength index,SI)变化规律,探讨其影响因素。方法采用超声骨密度仪和生物电阻抗分析仪测量662例(男345例,女317例)兰州汉族青少年SI及体重、体质量指数(body mass index,BMI)、去脂体重、脂肪量4项体成分指标,采用Pearson相关分析法和多元逐步回归法探讨SI的影响因素。结果总体来看,随年龄增加,兰州汉族青少年SI以及身高、体重、BMI、去脂体重、脂肪量5项指标均呈上升趋势。但是,不同性别以及不同年龄段各指标的增长速度存在差异,一般在17岁组或18岁组达到峰值,其中14岁左右为骨发育速度高峰。SI仅在总体上和13岁组存在性别差异且女性大于男性。SI与性别、年龄、身高、体重、BMI、去脂体重、脂肪量均呈正相关关系。而性别、年龄和BMI是SI的主要影响因素。结论兰州汉族青少年SI在不同性别和不同年龄段间变化规律不同,主要的影响因素为性别、年龄及BMI。     

维吾尔族与汉族年龄相关性自内障患者屈光参数的对比分析

目的对比研究维吾尔族与汉族年龄相关性白内障患者屈光参数及人工晶状体度数。方法回顾性分析2013年2。11月克拉玛依市中心医院眼科行白内障摘除加人工晶状体植入术的维吾尔族与汉族年龄相关性白内障患者110只眼（右眼）使用IOLMaster进行眼轴长度、角膜平均曲率、前房深度测量,计算人工晶状体度数,并进行统计学分析。结果两民族患者眼轴长度、前房深度及人工晶状体度数比较,差异有统计学意义（P〈0．05）,角膜曲率差异无统计学意义（P〉0．05）。两民族不同性别患者眼轴长度、角膜曲率、前房深度及人工晶状体度数比较,差异无统计学意义（P〉0．05）。结论汉族较维吾尔族年龄相关性白内障患者眼轴更长,前房更深,人工晶状体度数更小。     

湖南汉族人群脂联素基因多态性分布及其与动脉粥样硬化性脑梗死和相关危险因素的关系

目的探讨脂联素基因45T/G和276G/T多态位点在湖南地区汉族人群中的分布及其与动脉粥样硬化性脑梗死和相关危险因素的关系。方法收集163例正常对照者和161例动脉粥样硬化性脑梗死患者的血标本,聚合酶链反应限制片长多态性分析法检测脂联素基因45T/G和276G/T多态性在动脉粥样硬化性脑梗死组和正常对照组的基因频率,同时检测研究对象的血脂和血压水平。结果中国湖南地区汉族人群脂联素基因45T/G和276G/T位点等位基因频率分别是0.783/0.217和0.697/0.303。脂联素基因45T/G多态位点等位基因和基因型分布频率两组相比差异无统计学意义(P>0.05);动脉粥样硬化性脑梗死组脂联素基因276G/T多态位点TT基因型频率和T等位基因频率明显高于对照组(P<0.05),且TT基因型亚组甘油三酯水平较GG基因型亚组显著升高,差异有统计学意义(P<0.05)。结论脂联素基因45T/G多态性可能与中国湖南汉族人群动脉粥样硬化性脑梗死的发生无关;276G/T多态性可能参与中国湖南汉族人群动脉粥样硬化性脑梗死的发生,且可能影响血脂水平,276TT型者可能具有较高水平的甘油三酯。     

医学生学习积极主动性的民族特征研究

目的了解汉区少数民族与汉族医学生学习积极主动性的差异,为探索提高医学生学习积极主动性的干预措施提供依据。方法采用便利取样法,对中国医科大学一~四年级的248名医学生(少数民族99人,汉族149人)进行学习积极主动性问卷的调查,应用方差分析、Kruskal-Wallis H检验、t检验、聚类分析法对数据进行统计学分析。结果少数民族医学生和汉族医学生在学习积极主动性问卷的评分分别为(48.20±7.24)、(50.76±7.82),差异有统计学意义(P0.05);少数民族医学生在深入学习、控制学习、扎实学习维度得分以及学习积极主动性问卷总分显著低于汉族医学生(P均0.05)。不同年级的少数民族医学生的学习驱动力、学习目标的评分差异有统计学意义(P均0.05)。不同年级汉族医学生的学习驱动力以及学习积极主动性问卷的评分差异有统计学意义(P0.05)。医学生学习积极主动性可归为四类,其中1类学生在学习积极主动性最佳,2类和3类居中,4类最差,少数民族医学生1~4类的比例分别为9.09%、26.26%、36.36%、28.28%,汉族医学生1~4类的比例分别为18.12%、32.21%、28.19%、21.62%。结论少数民族和汉族医学生学习积极主动性的特点有共性但也存在个性的差异,医学教育工作者应结合汉族、少数民族医学生学习积极主动性的特点和规律,展开有针对性的教育,从根本上提高学生的学习积极主动性,促进学生的发展。     

Symptoms and occurrences of narcolepsy: a retrospective study of 162 patients during a 10-year period in Eastern China

ObjectiveOur study was designed to assess symptomatology and occurrences of narcolepsy in Eastern China between 2003 and 2012. Herein we report the substantial changes in the occurrence and clinical features of narcolepsy over the last decade in China.MethodsWe performed a retrospective analysis of 162 Han Chinese patients with narcolepsy at Changzheng Hospital, Shanghai, China. Clinical histories and precipitating factors were recorded, in addition to narcolepsy and H1N1 winter flu pandemic (pH1N1) occurrences at Changzheng Hospital. The occurrences also were compared between the Changzheng Hospital and the People’s Hospital, Beijing, China.ResultsIn our sample, narcolepsy occurred 1.73 times more frequently in men than in women. Most of the participants were children, which peaked to 91% in 2010. Excessive daytime sleepiness (EDS), disrupted nocturnal sleep, cataplexy, and weight gain were the four major symptoms. We found that 40% of patients had identifiable precipitating factors. The occurrence of narcolepsy in 2010 showed an approximate three-fold difference from the baseline levels at the Changzheng Hospital, which showed positive relationships with occurrences of pH1N1 in Shanghai and the occurrence of narcolepsy at the People’s Hospital.ConclusionsOur findings show the interactive effects of geography and H1N1 disease in relation to narcolepsy in Han Chinese populations, and strengthen the theoretic hypothesis that immune and mental factors facilitate the onset of narcolepsy.     

The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population

Objectives. A recent genome-wide association study (GWAS) of the European population implicated the CMYA5 gene in schizophrenia. Previous functional studies showed that the CMYA5 protein can interact with DTNBP1 and PKA, providing further support for a role of CMYA5 in the pathogenesis of schizophrenia. However, this association requires additional validation in independent populations. Methods. To validate the association between CMYA5 and schizophrenia and major depressive disorder, we genotyped 16 SNPs within the CMYA5 gene and performed case–control studies in 1330 schizophrenia patients, 1045 patients with major depressive disorder, and 1235 normal controls. All patients were of Han Chinese origin. Results. rs6883197 and rs259127 were significantly associated with schizophrenia, and rs12514461, rs259127, and rs7343 were associated with major depressive disorder. Additionally, one risk haplotype of rs16877109–rs3828611 (G–G) was associated with both schizophrenia (P = 0.0000784, after correction) and major depressive disorder (P = 0.00230, after correction). Conclusions. Our findings support the idea that specific alleles and haplotype in the CMYA5 confer genetic risk for both schizophrenia and major depressive disorder in the Han Chinese population.     

维吾尔族、汉族癫痫患儿左乙拉西坦血药浓度与疗效及安全性的相关性研究

目的 研究新疆维吾尔族、汉族癫痫患儿左乙拉西坦（levetiracetam,LEV）血药浓度与临床疗效及安全性之间的相关性及差异性,同时预测可获得最佳疗效的LEV稳态谷浓度（steady valley concentration,Css）。方法 采用UPLC测定300例口服LEV的癫痫患儿的Css,分析族别对LEV Css的影响;观察其疗效和不良反应,并运用Logistic回归和受试者操作特征（receiver operating characteristic curve,ROC）曲线分析维吾尔族、汉族癫痫患儿血药浓度与疗效的关系。结果 LEV的浓度剂量比（concentration-dose ratio,CDR）结果显示其在维吾尔族、汉族患儿之间的差异均无统计学意义。2组患儿在0~4岁年龄组的CDR值差异有统计学意义（P<0.05）。2组患儿的LEV给药剂量和血药浓度均呈正相关,其中维吾尔族患儿组的相关性（r=0.628,P<0.01）优于汉族患儿组（r=0.545,P<0.01）。2组患儿LEV治疗有效率分别为78.43%,81.63%。2组患儿LEV治疗有效组与无效组的LEV Css差异均具有统计学意义（P<0.05）。Logistic回归分析发现在一定浓度范围（4.07~30.88 mg·L^-1）内,2组患儿LEV Css与疗效呈正相关。2组患儿中Css对于疗效的预判准确性均强于给药剂量。当维吾尔族患儿Css ≥ 13.15 mg·L^-1和汉族患儿Css ≥ 9.28 mg·L^-1时,其临床疗效均可得到更好的保证。结论 新疆维吾尔族、汉族癫痫患儿LEV血药浓度和临床疗效及安全性之间既存在相关性又存在不同程度的差异性,通过监测LEV Css可以提高临床疗效、避免不良反应,并为新疆癫痫患儿制订个体化给药方案提供参考。     

Genetic polymorphism of both 29 Y-STRs and 213 Y-SNPs in Han populations from Shandong Province,China

Genetic markers on the Y chromosome, including short tandem repeats (Y-STRs) and single nucleotide polymorphisms (Y-SNPs), are used widely in forensic genetics. Both Y-STR-based haplotypes and Y-SNP-based haplogroups provide information on a population’s genetic structure, which is useful for the identification of individuals. However, there are few studies on these two types of genetic markers in the various Chinese populations. In this study, 284 Han individuals from four prefecture-level cities in Shandong Province (Binzhou, Dezhou, Heze, and Weihai) were genotyped by 29 Y-STRs (from our previous study) and 213 Y-SNPs (self-designed for the Haplogroup O2 Y-SNP panel). Haplogroup O was the most predominant among the four cities. The highest haplogroup diversity (0.9745) was observed in the Heze population, with a discrimination capacity (DC) value of 0.5625. The haplotype diversity and DC values of the Binzhou and Heze populations were 1.0000. Furthermore, genetic differences were observed between the coastal and inland cities; the results of their statistical analysis are presented herein.