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.     

建水县7～18岁汉族学生生长发育状况分析

目的 了解建水县儿童青少年生长发育规律,为有关部门制定政策提供依据.方法 使用2005年和2010年全国学生体质健康调研数据中的云南省资料,对建水县汉族学生的形态、机能和素质指标进行分析.结果 2010年建水县7～18岁汉族学生身高、体重、胸围和肺活量等形态、机能指标以及速度、爆发力、耐力、肌力和柔韧性指标均有明显的年龄特征,随着年龄的增长呈上升趋势,各年龄的生长速度不同,各指标的发育符合生长发育的一般规律;城市学生身高、胸围发育趋势减缓甚至停滞,农村学生生长发育速度快于城市,城乡差异缩小;速度、下肢爆发力和耐力男生好于女生,柔韧性女生优于男生;除柔韧性城市学生明显高于乡村学生外,其余指标均无明显的城乡差异.男女生速度、耐力、下肢爆发力和女生腹肌力下降,男女生柔韧性、男生上臂肌力有所提高.结论 学校、家庭和社会要形成合力,加强引导,创造学生平衡膳食和加强锻炼的环境,培养学生树立合理膳食、参加运动的意识及行为习惯,促进学生体质健康.     

Association of HLA class II (-DRB1,-DQB1,-DPB1) alleles and haplotypes on susceptibility to aplastic anemia in northern Chinese Han

The Human Leukocyte Antigen (HLA) genes, playing key roles in mediating the immune response, especially HLA class II alleles were suggested to play a role in the activation of autoreactive T-cells in aplastic anemia (AA). Previous studies in different ethnic groups have indicated that some of HLA-A,-B,-DRB1 alleles had a protective or susceptive association with the prevalence, pathogenesis and development of AA. HLA class II genes, especially HLA-DQB1 and -DPB1 alleles or haplotypes at high-resolution level associated with AA have not been fully identified in northern Chinese Han populations. The aim of this study was to identify association of the variations in HLA class II region with AA in northern Chinese Han population. A recent case-control study, including 96 AA patients and 824 healthy controls was performed. The high-resolution HLA genotyping was conducted by PCR-SBT, -SSO and NGS-ION S5^TM platform. Based on genotypic data of the three loci, haplotype estimation was carried out. HLA-DRB1*15:01 (Pc = 2.87 × 10^-3; OR = 2.11, 95% CI = 1.45–3.07) and HLA-DQB1*06:02 (Pc = 1.86 × 10^-2; OR = 2.01, 95% CI = 1.32–3.06) were the risk and predisposition alleles to AA in northern Chinese Han after considering multiple testing. Moreover, the HLA-DRB1*15:01-DQB1*06:02 (Pc = 4.90 × 10^-3; OR = 2.09, 95% CI = 1.37–3.19) and HLA-DRB1*14:05-DQB1*05:03 (Pc = 2.65 × 10^-2; OR = 2.82, 95%CI = 1.45–5.50) haplotypes had direct strong relevance to AA and were the susceptible haplotypes. HLA-DPB1 alleles and 23 polymorphic amino acid residues spanning exon 2 ~ 4 of DPβ1 molecules have showed no statistically significant associations between AA and controls. The present findings establish a novel link between inherited HLA-DRB1,-DQB1,-DPB1 risk alleles and haplotypes in northern Chinese Han with AA, and open new avenues for development of targeted therapies to prevent or redirect immunopathology in AA.     

A novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family

The mutations in the presenilin 2 (PSEN2) gene as causes of early-onset familial Alzheimer's disease (AD) have never been reported in Asia. We conducted a phenotype and pedigree study by performing neuropathological examination and target region sequencing in a family of 3 generations. Six members in this family developed dementia in their fifth decade and died in their sixth decade. The proband was diagnosed clinically with AD, which was confirmed by an autopsy. Target region sequencing showed a novel missense mutation at codon 141 (N141Y) of the PSEN2 gene that predicts an Asparagine-to-Tyrosine substitution in the affected individuals. The result was validated by Sanger sequencing in 7 family members (2 affected and 5 unaffected). The mutation was absent in the 5 clinically unaffected relatives and 188 control subjects. No influence of the APOE genotype was observed. We are the first to demonstrate a novel PSEN2 N141Y mutation in a Chinese Han family with early-onset AD.     

Clinical profile of Parkinson's disease in the Gumei community of Minhang district,Shanghai

OBJECTIVE:

We examined the demographic and clinical profiles of Parkinson''s disease in Shanghai, China, to assist in disease management and provide comparative data on Parkinson''s disease prevalence, phenotype, and progression among different regions and ethnic groups.

METHODS:

A door-to-door survey and follow-up clinical examinations identified 180 community-dwelling Han-Chinese Parkinson''s disease patients (104 males, 76 females).

RESULTS:

The average age at onset was 65.16±9.60 years. The most common initial symptom was tremor (112 patients, 62.22%), followed by rigidity (38, 21.11%), bradykinesia (28, 15.56%) and tremor plus rigidity (2, 1.11%). Tremor as the initial symptom usually began in a single limb (83.04% of patients). The average duration from onset to mild Parkinson''s disease (Hoehn-Yahr phase 1–2) was 52.74±45.64 months. Progression from mild to moderate/severe Parkinson''s disease (phase≥3) was significantly slower (87.07±58.72 months; p<0.001), except for patients presenting initially with bradykinesia (53.83±24.49 months). Most patients (149/180, 82.78%) took levodopa with or without other drugs. The Hamilton Anxiety Scale revealed symptoms of clinical anxiety in 35 patients, and the Hamilton Depression Scale revealed depressive symptoms in 88 patients. The depressed or anxious subgroup (123 patients) demonstrated a significantly younger age at onset (55.54±7.68 years) compared with the overall mean (p<0.05).

CONCLUSION:

Unilateral limb tremor was the most common initial symptom, and motor function deteriorated slowly over ≈4−9 years. Earlier-onset patients experience greater psychiatric dysfunction.     

新疆维吾尔族、汉族癫痫患儿拉考沙胺血药浓度、临床疗效和安全性的差异性研究

目的 探讨新疆维吾尔族、汉族癫痫患儿拉考沙胺(lacosamide，LCM)血药浓度与临床疗效的相关性和差异性。方法 采用超高效液相色谱法测定100例维吾尔族癫痫患儿和194例汉族癫痫患儿的血药浓度，观察其疗效和不良反应，运用Logistic回归和受试者操作特征曲线分析患儿血药浓度和疗效的相关性。结果 维吾尔族患儿的LCM癫痫治疗有效率显著低于汉族患儿(65.00%和78.68%，P<0.05)。维吾尔族患儿的LCM血药浓度显著高于汉族患儿[(7.13±2.88)μg·mL^–1和(6.27±2.53)μg·mL^–1，P<0.05]。维吾尔族、汉族有效组患儿接受LCM单一治疗的比例显著高于无效组，接受LCM合并细胞色素P450酶诱导剂治疗的比例显著低于无效组(P<0.05)。维吾尔族、汉族癫痫患儿的不良反应发生率分别为29.00%和36.60%，发生不良反应的维吾尔族患儿的LCM血药浓度显著高于未发生不良反应组患儿[(8.20±3.60)μg·mL^–1和(6.70±2.43)μg·mL^–1，P<0.05]。结论 临床使用LCM治疗不同民族癫痫患儿的过程中，有必要监测LCM稳态谷浓度，以提高疗效和降低不良反应发生率。     

吉林省地区朝鲜族和汉族健康人群LPL基因HindⅢ酶切位点多态性分布的研究

目的分析我国吉林省地区朝鲜族和汉族健康人群脂蛋白酯酶(lipoprotein lipase,LPL)基因HindⅢ酶切位点多态性的分布。方法应用聚合酶链反应(polimerase chain reaction,PCR)等技术检测66例朝鲜族和90例汉族LPL基因多态性,并将其基因型和等位基因在两族人群中的分布进行统计学分析。结果朝鲜族人群LPL基因P+P+基因型,P+P-基因型和P-P-基因型频率分别为57.58%,33.33%和9.09%;汉族人群分别为73.33%,24.44%和2.22%,两组基因型的分布差异具有显著性(P=0.049)。朝鲜族人群P+等位基因和P-等位基因频率分别为74.24%和25.76%;汉族人群分别为85.56%和14.44%,两组等位基因的分布差异具有显著性(P=0.012)。结论 LPL基因HindⅢ酶切位点多态性在中国吉林省地区朝鲜族和汉族人群中的分布差异有显著性。     

藏汉族青年人群动脉血管弹性影响因素综合分析

目的：探讨藏汉族青年人群动脉弹性功能的差别及影响因素。方法：随机选择西藏民族学院05级大学生1556人为实验对象,在陕西咸阳进行现场血压、血细胞实验室检查和现场问卷调查,应用英国Micro公司PulseTrace：PT-1000血管弹性测定仪检测藏族及汉族学生动脉血管弹性参数僵硬指数（SI）、反射指数（RI）、双峰时间（PPT）。结果：①身高、血压、腰围、PPT、心率,汉族高于藏族且有统计学差异。体重指数（BMI）、脉压（PP）、RI、SI藏族高于汉族,且均有统计学差异,随着心率、BMI的增加,脉压增大;②有心血管病家族史的人群中,SI明显升高;③不同性别之间身高、体重、血压、BMI、腰围、RI、SI、PPT男性高于女性,心率女性高于男性,两组之间身高、体重、双峰时间、心率有显著性差异;BMI、腰围、RI、SI两组之间无统计学差异;④RI、SI与PP高度正相关;⑤血红蛋白（HB）、红细胞（RBC）、红细胞压积（HCT）与RI、SI、PPT相关性分析结果均无统计学差异。结论：①青年人群中,汉族血压高于藏族;男性血压高于女性;②藏族青年较汉族青年血管紧张度增加,动脉弹性降低,存在种族间差异;③心血管病家族史是影响动脉弹性的危险因素之一;④藏汉族青年人群中性别对动脉弹性功能无影响,脉压是反映动脉弹性的可靠性指标。⑤藏汉青年人群的HB、RBC、HCT对动脉弹性无影响。