线粒体DNA4个多态性与宁夏汉族乳腺癌无相关性

 目的 探讨线粒体DNA（mtDNA）np16 189、np16 223、np16 519和D310区多态性及其交互作用与宁夏汉族乳腺癌及其临床病理特征的相关性。方法 用病例-对照法和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测195例乳腺癌患者和196例健康体检者各位点基因型,计算基因型频率,用χ2和OR（Odds ratio）检验分析单个、多个位点联合与乳腺癌的相关性,并分析各位点的基因型频率与乳腺癌临床病理特征的相关性。结果 1）mtDNA np16 189、np16 223和np16 519 3个位点的基因型频率在病例组和对照组中的分布无差异;D310区三种基因型在病例组高于对照组（OR=6. 6629,P＞0.05）,携带异质型的个体发生乳腺癌的危险性比携带突变型个体低（OR=0.216,95%CI为0.058～0.809）。2）4个多态性位点之间的交互作用在两组间无差异。3）4个多态性位点与乳腺癌临床病理特征间无相关性。结论 mtDNA np16 189、np16 223、np16 519和D310区及其交互作用与宁夏汉族乳腺癌无相关性。     

福建地区汉族人群对微笑美学参数喜好度的研究

目的    探讨微笑美学参数的改变对微笑美的影响,并研究福建地区汉族人群对微笑美学参数的喜好度,为临床诊疗提供参考。方法　选取1张美观协调的志愿者（福建医科大学口腔医学院本科生）微笑图像作为模板图像,通过调整颊隙率、侧切牙与中切牙宽度比值、上中切牙宽长比例和牙龈暴露量等微笑美学参数对模板图像进行修改,获得24张微笑图像,作为调查资料。选择2019年3—9月于福建医科大学附属口腔医院就诊的成年患者158例［男75例、女83例,年龄（29.8 ± 5.5）岁］作为调查对象,对24张微笑图像进行视觉模拟评分（visual analogue scale,VAS）,并对所获VAS评分进行Kruskal-Wallis检验和Mann-Whitney检验。结果　颊隙率为0 ~ 15%、侧切牙与中切牙宽度比值为62% ~ 87%、上中切牙宽长比例为80% ~ 95%,以及牙龈暴露量为-1 ~ 1 mm时,其VAS评分在相应微笑美学参数中相对较高（均P < 0.05）。结论    颊隙率、侧切牙与中切牙宽度比值、上中切牙宽长比例以及牙龈暴露量均可对微笑美产生显著影响。     

新疆地区维吾尔族和汉族人群SLC2A9基因rs938557 C/T多态性与高尿酸血症的相关性

目的研究新疆地区维吾尔族(维族)、汉族人群可溶性载体2家族成员9基因(SLC2A9)rs938557 C/T多态性的差异及该基因位点多态性与高尿酸血症的相关性。方法纳入2013年新疆医科大学附属医院汉族、维族高尿酸血症患者和尿酸正常者共3 644例作为研究对象,其中汉族1 278例,维族2 366例;检测研究对象血清尿酸(UA)、三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)和空腹血糖(FBG)等指标;用多重高温连接酶检测反应(i MLDR)检测SLC2A9基因rs938557位点多态性。结果汉族人群UA、TC、HLD-C和LDL-C均高于维族(P均0.05),而体质指数(BMI)、收缩压(SBP)和TG均低于维族(P均0.05)。维族SLC2A9基因rs938557位点各基因型频率分别为CC=60.8%、CT=34.5%、TT=4.7%,汉族分别为CC=45.7%、CT=41.9%、TT=12.4%,维、汉族各基因型频率差异有统计学意义(χ2=113.637,P=0.000);维族SLC2A9基因rs938557位点T和C等位基因的频率分别为78%和22%,汉族分别为66.6%和33.4%,差异有统计学意义(χ2=112.516,P=0.000)。汉族人群TT基因型频率(12.4%)及T等位基因频率(33.4%)均高于维族(4.7%和22%),差异均有统计学意义(P均0.05)。按维、汉族SLC2A9基因rs938557位点CC+CT基因型与TT基因型分组,各生化指标间差异均无统计学意义(P均0.05)。维、汉族高尿酸血症组和尿酸正常组SLC2A9基因rs938557位点基因型和等位基因频率差异均无统计学意义(P均0.05)。排除基因与BMI、性别、血压的交互作用后,未发现维、汉族SLC2A9基因rs938557位点与尿酸水平和高尿酸血症之间的相关性(P0.05)。结论 SLC2A9基因rs938557位点多态性虽然存在一定的民族差异,但与高尿酸血症之间没有相关性。     

广西汉族IL-10启动子区基因多态性与HBV易感性及感染转归的关系

目的探讨白细胞介素-10(IL-10)基因启动子区-592A/C、-1082G/A位点单核苷酸多态性与乙型肝炎病毒(HBV)易感性及后临床转归之间的关系。方法 256例慢性HBV感染者,其中乙型肝炎肝硬化59例,慢性乙型肝炎151例,慢性HBV携带46例,以52例健康体检者作为对照组。采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术,检测各组IL-10基因启动子区-592A/C、-1082G/A位点基因型及等位基因分布频率。结果肝硬化组、肝炎组、携带组与对照组的IL-10-592A/C位点AA、AC、CC基因型及A、C等位基因分布频率比较,差异均无统计学意义(P>0.05);IL-10-1082G/A位点GG、GA和AA基因型分布频率比较,差异有统计学意义(P<0.05),AA基因型频率分布依次为肝硬化组>肝炎组>携带组>对照组(P<0.05);各组IL-10-1082G/A位点G、A等位基因频率比较,差异有统计学意义(P<0.05),肝硬化组的A等位基因频率分布最高,其余依次为肝炎组、携带组及健康对照组(P<0.05)。不同HBV-DNA水平组的IL-10-592A/C、IL-10-1082G/A两位点基因型及等位基因分布频率比较,差异均无统计学意义(P>0.05)。结论IL-10-1082G/A位点AA基因型及A等位基因可能与广西汉族人群HBV易感性及其临床结局有关;而IL-10基因启动子区-592A/C、-1082G/A位点多态性可能与广西汉族人群感染HBV后的病毒复制水平无明显关系。     

Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China

Background:

Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nerve system. Interleukin-7 (IL-7) and interleukin-7 receptor alpha (IL-7Rα) were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes. The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations. However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population. Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastern China.

Methods:

Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system) and Sanger sequencing were used to determine the variants of IL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China. Samples were excluded if the genotyping success rate <90%.

Results:

Statistical differences were observed in the genotypes of IL-7 rs1520333 in MS patients and IL-7RA rs6897932 in NMO patients, compared with healthy controls (P = 0.035 and 0.034, respectively). There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P = 0.014). And there were statistically significant differences in the rs6897932 genotypes (P = 0.004) and alleles (P = 0.042) between NMO-IgG positive patients and healthy controls.

Conclusions:

The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients. And the genotypic differences of IL-7 rs2887502 between MS and NMO indicated the different genetic backgrounds of these two diseases.     

Hypermethylation of TFPI2 correlates with cervical cancer incidence in the Uygur and Han populations of Xinjiang,China

Tissue factor pathway inhibitor 2 (TFPI2) is a Kunitz-type serine proteinase inhibitor, which plays an important role in the etiology of human malignancies. DNA methylation is a common epigenetic modification of the genome that is involved in regulating many cellular processes. In addition to human papilloma virus (HPV) infection, DNA methylation may play a role in the carcinogenesis of cervical cancer. Methylation of 22 CpG sites in the promoter region of the TFPI2 gene was detected by MassARRAY spectrometry and a gene mass spectrogram was drawn using MALDI-TOF MS. HPV16 was detected by PCR. We show that aberrant methylation of TFPI2 is present in a higher proportion of invasive cervical carcinoma (ICC) clinical samples as compared to normal cervical samples in Uygur and Han. Across the four pathologic lesions of the progression of cervical cancer, ICC showed the highest level of aberrant methylation, and with a stronger correlation between CpG site and lesion grade in Uygur than in Han. Moreover, a difference in TFPI2 methylation between Uygur patients positive and negative for HPV16 infection was observed at CpG_6 (P = 0.028) and CpG_15 (P = 0.007). Altogether, these results indicate that DNA methylation of TFPI2 may play an important role in the carcinogenesis of cervical cancer and that the differential methylation of TFPI2 may at least partially explain the disparity in cervical cancer incidence between Uygur and Han women.     

汉族、维吾尔族和哈萨克族人群内脏脂肪素水平与尿酸、脂代谢指标的相关性

摘要：目的：分析新疆地区汉族、维吾尔族（维族）和哈萨克族（哈族）内脏脂肪素（visfatin）水平与尿酸（UA）、脂代谢指标的相关性。 方法：2011年于新疆少数民族聚居区采集汉族、维族和哈族人群血液标本,检测血清UA和三酰甘油（TG）、总胆固醇（TC）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）等脂代谢指标,用ELISA法检测血清内脏脂肪素含量,分析内脏脂肪素与UA、脂代谢指标的相关性。 结果：汉族、维族和哈族血清内脏脂肪素水平分别为（38.42±33.60）、（32.68±26.87）和（86.36±17.68）ng/mL,哈族高于汉族和维族（P均＜0.05）。汉族UA升高组、TG升高组、HDL-C降低组及肥胖组内脏脂肪素水平均升高（P均＜0.05）。维族UA升高组、TG升高组内脏脂肪素水平均升高（P均＜0.05）,哈族UA升高组、肥胖组内脏脂肪素水平均升高（P均＜0.05）。3个民族内脏脂肪素与UA均呈正相关（r汉=0.305,P＜0.01;r维=0.130,P＜0.05;r哈=0.137,P＜0.05）。汉族和维族血清内脏脂肪素与TG均呈正相关（r汉=0.260,P＜0.01;r维=0.178,P＜0.01）,汉族内脏脂肪素与HDL-C呈负相关（r汉=－0.105,P＜0.05）。 结论：血内脏脂肪素水平存在民族差异,且在UA代谢和脂代谢紊乱过程中有改变。     

延边州汪清县朝鲜族和汉族高血压患病现况及相关因素分析

目的　了解延边州汪清县朝鲜族及汉族成年人群高血压患病现况及相关因素。方法　采取随机整群抽样法,抽取当地20～80岁朝鲜族和汉族常住居民,用预先设计的调查表对研究对象进行问卷调查,并测量相关体格指标。结果　朝鲜族男女高血压患病粗率分别为52.5%和50.5%,汉族男女分别为42.1%和29.4%,年龄调整标化患病率朝鲜族男女分别是48.0%和48.0%,汉族男女分别是42.0%和29.0%,无论男女朝鲜族人群的高血压患病率水平均显著高于汉族人群;该地区不同民族男女高血压患病率均随着年龄增长而呈升高趋势,随着日蔬菜摄入量的增加而呈下降趋势;多因素回归分析显示,朝鲜族人群的高血压与年龄、日蔬菜摄入量、体质指数、吸烟、饮酒、日食盐量密切相关,汉族人群的高血压与性别、年龄、日蔬菜摄入量、体质指数、吸烟密切相关。结论　朝鲜族和汉族人群的高血压患病水平及相关因素的分布特征有差异。     

青海高原地区不同海拔世居藏族和汉族慢性心力衰竭患者血清N末端脑钠肽前体、超敏C反应蛋白及炎性因子水平变化及其与预后的关系研究

背景心力衰竭患者血清N末端脑钠肽前体(NT-proBNP)、超敏C反应蛋白(hs-CRP)及炎性因子水平存在明显异常,但关于其在青海高原地区不同海拔世居藏族、汉族慢性心力衰竭患者中变化研究报道较少见。目的探讨青海高原地区不同海拔世居藏族、汉族慢性心力衰竭患者血清NT-proBNP、hs-CRP及炎性因水平变化及其与预后的关系。方法选取2013年6月—2015年6月于青海省心脑血管病专科医院住院治疗及高原健康体检中心体检的藏族、汉族慢性心力衰竭患者180例,比较不同海拔、民族患者一般资料(包括性别、年龄、体质量、收缩压、舒张压)及血清NT-proBNP、hs-CRP、肿瘤坏死因子α(TNF-α)、白介素6(IL-6)水平;随访3年,比较不同临床特征患者3年生存率;青海高原地区世居藏族、汉族慢性心力衰竭患者预后的影响因素分析采用多因素Cox比例风险回归分析,并绘制Kaplan-Merier生存曲线以分析青海高原地区世居藏族、汉族慢性心力衰竭患者生存情况。结果不同海拔、民族患者舒张压及血清NT-proBNP、hs-CRP、TNF-α水平及不同海拔患者IL-6水平比较,差异有统计学意义(P<0.05)。不同纽约心脏病协会(NYHA)分级,血清NT-proBNP、hs-CRP、TNF-α、IL-6水平,海拔及有无高血压、糖尿病、冠心病、高原性心脏病、慢性肾衰竭、贫血患者3年生存率比较,差异有统计学意义(P<0.05)。多因素Cox比例风险回归分析结果显示,NT-proBNP〔HR=0.02,95%CI(0,0.23)〕、TNF-α〔HR=6.45,95%CI(1.47,28.25)〕及海拔{3001~4000 m〔HR=0.23,95%CI(0.06,0.89)〕,>4000 m〔HR=0.31,95%CI(0.11,0.84)〕}是青海高原地区世居藏族、汉族慢性心力衰竭患者预后的独立影响因素(P<0.05)。Kaplan-Merier生存曲线分析结果显示,血清NT-proBNP水平<258 ng/L患者3年累积生存率高于血清NT-proBNP水平≥258 ng/L者(χ2=7.824,P<0.05),血清TNF-α水平<32 ng/L患者3年累积生存率高于血清TNF-α水平≥32 ng/L水平者(χ2=13.817,P<0.01);不同海拔患者3年累积生存率比较,差异有统计学意义(χ2=55.445,P<0.01)。结论青海高原地区海拔越高则世居藏族、汉族慢性心力衰竭患者血清NT-proBNP、hs-CRP、TNF-α、IL-6水平越高,且汉族患者高于藏族患者;高血清NT-proBNP、TNF-α水平及高海拔是青海高原地区世居藏族、汉族慢性心力衰竭患者预后不良的危险因素。