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Polymorphisms in CYP2R1 Gene Associated with Serum Vitamin D Levels and Status in a Chinese Rural Population 被引量:1
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作者 WANG Yan HAN Han +10 位作者 WANG Jun SHEN Fang YU Fei WANG Ling YU Song Cheng ZHANG Dong Dong SUN Hua Lei XUE Yuan BA Yue WANG Chong Jian LI Wen Jie 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2019年第7期550-553,共4页
Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25... Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25(OH)D] and it is a useful clinical biomarker of vitamin D status. The Institute of Medicine (IOM) defines as vitamin D deficiency (VDD) when serum 25(OH)D concentration is less than 20 ng/mL⑴.Worldwide, VDD is recognized as a severe public health problem. In 2007, Holick estimated that globally over one billion people suffered from VDD or vitamin D insufficiency (VDI). In China, it has bee n reported that the prevale nee of VDD ranged from 38.8% to 91.2% in different regions. 展开更多
关键词 polymorphisms CYP2R1 GENE SERUM VITAMIN D chinese RURAL population
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Association between essential hypertension and polymorphisms of beta 1 adrenergic receptor gene G1165C (Gly389Arg) in Chinese Mongolian population 被引量:2
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作者 Rile Hu Rile Hu +4 位作者 Shigang Zhao Guangming Niu Chunyu Zhang Zhiguang Wang Mingfang Jiang 《Neural Regeneration Research》 SCIE CAS CSCD 2006年第3期226-229,共4页
BACKGROUND: The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is he... BACKGROUND: The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is helpful to develop researches on the genetics of various diseases including hypertension in Mongolian population. OBJECTIVE: To analyze the association between the polymorphism of beta1 adrenergic receptor (β1-AR) gene G1165C (Arg389Gly), an important candidate gene for various diseases of cardiovascular system, and essential hypertension in Mongolian population. DESIGN : A cross-sectional study SETTINGS: Department of Neurology, the First Affiliated Hospital of Inner Mongolia Medical College; Wulate Houqi Red Cross Society. PARTICIPANTS: The survey was carried out from February 2003 to March 2005. Totally 239 Mongolian residents, whose blood relations of 3 generations were all Mongolians, were selected from Wulate Houqi, Inner Mongolia, and they were all informed with the survey and detected items. Based on the diagnostic standard of hypertension set by WHO in 1999, the subjects were divided into two groups according to the level blood pressure: ① Normal blood pressure group (n=117): systolic blood pressure (SBP) 〈 140 mm Hg (1 mm Hg =0.133 kPa), diastolic blood pressure (DBP) 〈 90 mm Hg, and those having histories of cerebrovascular disease, heart disease, diseases of liver, kidney and tiroides, and diabetes mellitus were excluded. ② Essential hypertension group (n=122): including 51 patients with simple high SBP. All the enrolled subjects had no blood relationship with each other, and had no history of miscegenation. METHODS : The body height, body mass, waist circumference and blood lipids were measured routinely, and their habits of smoking and drinking were also investigated. Penpheral venous blood (5 mL) was drawn, the genome DNA was extracted, and the polymorphisms of the β1-AR Gl165C (Gly389Arg) genotype were detected with the Sequenom system. Polymerase chain reaction (PCR) experiment and SNP detection were performed in Huada Gene Laboratory of Bejing, then the univariate analysis of variance was applied in the sample comparison among groups, and the chi-square test was used to compare the genotypes and allele frequencies. The odd ratio (OR) and 95% confidence interval (CO were calculated. MAIN OUTCOME MEASURES: The distributions of β1-AR Gl165C (Gly389Arg) genotypes and alleles were observed. RESULTS: A11 the 239 subjects were involved in the analysis of results, and no one missed, ①Comparison of β1-AR G1165C (Gly389Arg) genotypes and allele distnbutions: In Mongolian population, the frequencies of CC and GG+GC genotypes at β1-AR G1165C (Gly389Arg) site in the essential hypertension group (72%, 28%) were not significantly different from those in the normal blood pressure group (67%, 33%) (xz=0.841, P=-0.359; OR 0.773, 95%Cl: 0.445-1.342); The frequencies of C and G alleles also had no significant differences between the essential hypertension group (85%, 15%) and the normal blood pressure group (82%, 18%) (x^2=1.136, P=-0.287; OR: 0.769, 95%Cl: 0.747-1.248). ②The frequencies of CC and GG+GC genotypes at β1-AR G1165C (Gly389Arg) site had no significant differences between the patients with simple high SBP (71%, 29%) and the normal blood pressure group (x^2=0.250, P=-0.617; OR: 0.833, 95%C/: 0.408-1.703); The frequencies of C and G alleles were not significantly different between the patients with simple high SBP (86%, 14%) and the normal blood pressure group (x^2=0.670, P=-0.413; OR 0.766, 95%Cl: 0.404-1.453). CONCLUSION: In Mongolian population, the distributions of the genotypes and alleles of β1-AR Gl165C (Gly389Arg) have no obvious differences between the subjects with normal blood pressure and the patients with essential hypertension (including simple SBP increase), which suggests that G1165C (Glu389Asp) site of β1-AR gene may be not a genetic mark of essential hypertension and simple high SBP in Mongolian population. 展开更多
关键词 Gly389Arg Association between essential hypertension and polymorphisms of beta 1 adrenergic receptor gene G1165C in chinese Mongolian population gene
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中国傣族、景颇族人群中与艾滋病相关的CCR5△32、CCR2b-64I、SDF1-3′A等位基因多态性分布 被引量:11
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作者 叶峻杰 王福生 +3 位作者 彭林 金磊 丁明 刘明旭 《遗传》 CAS CSCD 北大核心 2003年第6期655-659,共5页
为了调查HIV 1感染相关的等位基因CCR5△32、CCR2b 64I、SDF1 3′A在我国云南省德宏州傣族景颇族人群中的频率和多态性分布,此课题以101例傣族和113例景颇族人群为研究对象,应用PCR、PCR RFLP(聚合酶链反应 限制性片段长度多态性)分析... 为了调查HIV 1感染相关的等位基因CCR5△32、CCR2b 64I、SDF1 3′A在我国云南省德宏州傣族景颇族人群中的频率和多态性分布,此课题以101例傣族和113例景颇族人群为研究对象,应用PCR、PCR RFLP(聚合酶链反应 限制性片段长度多态性)分析方法进行检测,计算突变基因频率;并对其群体分布、性别分布进行统计学分析。结果表明,中国傣族景颇族人群中未发现CCR5△32等位基因突变;傣族CCR2b 64I、SDF1 3′A基因突变频率分别为0.2130和0.2030,景颇族CCR2b 64I和SDF1 3′A基因突变频率分别为0.1637和0.1770;与中国汉族人群相比较,傣族和景颇族中SDF1 3′A突变频率较低(P值分别为0.0322和0.0021);两个民族的CCR2b 64I和SDF1 3′A等位基因群体分布符合Hardy Weinberg平衡,在性别之间分布无显著差异。中国傣族景颇族人群的CCR2b 64I等位基因的突变频率与汉族人相似,SDF1 3′A等位基因的突变频率比汉族人低,此两种突变基因在艾滋病发病过程中的影响值得进一步研究。由于未发现CCR5△32基因突变,中国傣族景颇族人群对HIV 1感染可能有较大的遗传易感性。 展开更多
关键词 傣族 景颇族 基因多态性 趋化因子受体 人类免疫缺陷病毒 艾滋病
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云南傣族景颇族人群中与艾滋病相关的CX3CR1基因多态性分布 被引量:5
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作者 叶峻杰 王福生 +3 位作者 彭林 金磊 丁明 刘明旭 《中国优生与遗传杂志》 2004年第3期16-17,共2页
目的 调查HIV - 1感染相关的等位基因CX3CR1的单核苷酸多态在我国云南省德宏州傣族、景颇族人群中的分布。方法 以 10 1例傣族人群和 113例景颇族人群为研究对象 ,应用聚合酶链式反应—限制性片段长度多态 (PCR -RFLP)分析方法 ,研究C... 目的 调查HIV - 1感染相关的等位基因CX3CR1的单核苷酸多态在我国云南省德宏州傣族、景颇族人群中的分布。方法 以 10 1例傣族人群和 113例景颇族人群为研究对象 ,应用聚合酶链式反应—限制性片段长度多态 (PCR -RFLP)分析方法 ,研究CX3CR1基因序列中 2 4 9和 2 80位点碱基是否发生突变 ,并对其群体分布、性别分布进行统计学分析。结果 中国傣族人群中I2 4 9和M2 80突变基因频率分别为 0 .0 4 95和 0 .0 2 97;中国景颇族人群中I2 4 9和M2 80突变基因频率分别为 0 .0 5 30和 0 .0 2 2 1。结论 中国云南傣族、景颇族人群存在CX3CR1基因序列中 2 4 9和 2 80位点突变 ,突变频率与国内外各种族相比具有一定的可比性。本实验为国内首次对我国傣族、景颇族人群的HIV - 1感染协同受体基因CX3CR1进行收集和分析 ,这在傣族、景颇族人群艾滋病的预防和治疗方面的意义值得深入研究。 展开更多
关键词 中国傣族 中国景颇族 HIV协同受体 CX3CR1 基因多态性
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MHC抗原加工递呈HLA-DO基因多态性与HCV感染易感性的分子流行病学研究
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作者 路滟 林凌云 +5 位作者 周铮 谭京广 曹彬 许曦 谢旭 梅树江 《中国实用医药》 2016年第32期1-3,共3页
目的探讨主要组织相容性复合体(MHC)抗原加工递呈相关基因HLA-DOA和HLADOB多态性与丙型肝炎病毒(HCV)易感性的关系。方法选取994例静脉注射吸毒人群,均进行检测血清中抗-HCV,将抗-HCV阴性者493例作为抗-HCV阴性组,抗-HCV阳性者501例作为... 目的探讨主要组织相容性复合体(MHC)抗原加工递呈相关基因HLA-DOA和HLADOB多态性与丙型肝炎病毒(HCV)易感性的关系。方法选取994例静脉注射吸毒人群,均进行检测血清中抗-HCV,将抗-HCV阴性者493例作为抗-HCV阴性组,抗-HCV阳性者501例作为抗-HCV阳性组。分析HLA-DOA和HLA-DOB基因SNPs与HCV感染易感性的关系以及环境-基因的交互作用。结果研究对象中年龄最小12岁,最大64岁,抗-HCV阳性组平均年龄(36.0±7.5)岁,抗-HCV阴性组平均年龄(34.0±7.9)岁;抗-HCV阳性组年龄略高于抗-HCV阴性组,差异有统计学意义(P<0.01)。两组性别构成比较差异无统计学意义(P=0.155>0.05);非深圳户籍人口抗-HCV阳性率(51.8%)略高于深圳户籍(40.0%),差异有统计学意义(P<0.05)。两组在文化程度上均以初中及以下为主,但在构成上比较差异有统计学意义(P<0.05),抗-HCV阴性组的高中及以上学历构成(24.3%)高于抗-HCV阳性组(17.0%)。抗-HCV阳性组谷丙转氨酶和谷草转氨酶的水平显著高于抗-HCV阴性组(P<0.01)。在吸毒人群中,HLA-DOA rs3128935 T→C和HLA-DOB rs2071469 A→G突变的改变均能显著降低个体感染HCV的风险,在调整了年龄、性别、户籍和文化程度以后,携带突变等位基因纯合子的个体发生HCV感染的可能性降低一半,OR值分别为0.32和0.50,P<0.01。结论 HLA-DOA rs3128935和HLA-DOB rs2071469突变的改变均能显著降低吸毒人群感染HCV的风险。 展开更多
关键词 丙型肝炎病毒 遗传多态性 抗原加工递呈 感染结局 中国人群
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中国人群1型糖尿病HLA-DQ基因多态性的Meta分析 被引量:12
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作者 薛付忠 王洁贞 胡平 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2005年第1期39-42,共4页
目的 综合评价中国人群HLA DQ基因多态性与 1型糖尿病 (DM)的关联性。方法 以 1型DM组和健康对照组的各HLA DQ等位基因频数(基因型频数、单倍型频数 )分布的OR值为统计量,全面检索相关文献;应用Meta分析软件包REVMAN4. 2,在基因分型... 目的 综合评价中国人群HLA DQ基因多态性与 1型糖尿病 (DM)的关联性。方法 以 1型DM组和健康对照组的各HLA DQ等位基因频数(基因型频数、单倍型频数 )分布的OR值为统计量,全面检索相关文献;应用Meta分析软件包REVMAN4. 2,在基因分型水平上,对各研究的结果进行一致性检验和数据合并,并评估发表偏倚。结果 等位基因DQA1* 0301、DQA1* 0501、DQB1* 0201、DQB1* 0303、DQB1* 0401和DQB1* 0604是中国人群 1型DM的危险基因 (均P<0. 05), 他们的合并OR值分别为2. 83、2. 90、4. 17、1. 65、2. 00和 3. 00;基因型 (或单倍型 )DQA1* 0301 /DQB1* 0201、DQA1* 0301 /DQB1*0302、DQA1* 0501 /DQB1* 0201、DQA1* 0301 /DQB1* 0201 /DRB1* 0301和DQB1* 0302 /DRB1* 0405是中国人群 1型DM的危险基因型(或单倍型,均P<0. 05),他们的合并OR值分别为 8. 95、3. 09、6. 01、6. 57和 14. 85。而等位基因DQA1* 0101、DQA1* 0102、DQA1* 0103、DQA1* 0104、DQA1* 0201、DQA1* 0401、DQA1* 0601、DQB1* 0301、DQB1* 0501、DQB1* 0503、DQB1* 0601和DQB1* 0602是中国人群 1型DM的保护等位基因(均P<0. 05),他们的合并OR值分别为 0. 47、0. 38、0. 21、0. 07、0. 44、0. 39、0. 44、0. 19、0. 33、0. 32、0. 42和 0. 28; 展开更多
关键词 DQA1 DQB1 中国人群 DM OR值 等位基因 META分析 单倍型 基因分型 保护
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