EMILIN1基因多态性与蒙古族原发性高血压相关性研究

Objective To explore the relationship between genetic polyrnorphisms of 3 single nucleotide polymorphisms (SNPs) in the elastin microfibril interfacer 1 (EMILIN1)gene and essential hypertension. Methods A case-control study was conducted in which 201 hypertensive patients and 202 healthy controls in Mongolian population were enrolled, and the genotypes of rs3754734, rs2011616 and rs2304682 loci were analyzed using polymerase chain reaction-restriction fragment length polyrnorphism (PCR-RFLP) and direct sequencing techniques. Results There were significant differences in the frequencies of alleles and genotypes for the rs2304682 between the hypertensives and normotensives in the population(P＜0. 05). The frequency of the G-G haplotype established by rs3754734 and rs2304682 was significantly higher in the hypertensive patients (P＜0. 05). The frequencies of alleles and genotypes for the rs2304682 also had significant differences between the group with high diastolic blood pressure and normal diastolic blood pressure (P＜0.05). There were no significant differences in the frequencies of alleles and genotypes for the 3 SNPs between the group with high systolic blood pressure and normal systolic blood pressure (P＞0.05). Conclusion The rs2304682 locus in the EMILIN1 gene, as well as the haplotypes G-G constructed using rs3754734 and rs2304682, may associate with the susceptibility of essential hypertension in the Mongolian population. Also, rs2304682 may associate with the level of the diastolic blood pressure.     

EMILIN1基因多态性与蒙古族原发性高血压相关性研究

目的 探讨蒙古族人群中EMILIN1基因的3个单核苷酸多态性(single nucleotide polymorphism,SNP)位点与原发性高血压的关系.方法 在内蒙古自治区蒙古族人群中选取201例原发性高血压患者和202名血压正常者进行病例对照研究,应用聚合酶链反应-限制性片段长度多态方法检测rs3754734、rs2011616和rs2304682这3个SNP位点的等位基因和基因型分布,并构建单倍型.结果 在这3个SNP位点中,rs2304682位点的基因频率和基因型频率在高血压组和对照组间差异有统计学意义(P＜0.05),并且在rs3754734和rs2304682这2个SNP位点构建的单倍型中,G-C和G-G单倍型在高血压组和对照组之间差异有统计学意义(P＜0.05).在舒张压偏高组和舒张压正常组间,rs2304682位点的基因型和等位基因分布差异有统计学意义(P＜0.05),而在收缩压偏高组和收缩压正常组间,各个SNP的基因型和等位基因分布差异无统计学意义(P＞0.05).结论 在蒙古族人群中,EMILIN1基因rs2304682多态性位点以及rs3754734和rs2304682这2个SNP位点构建的G-G单倍型可能与原发性高血压的易感相关联,rs2304682的多态性与蒙古族原发性高血压的舒张压的高低可能有关联.

Abstract：

Objective To explore the relationship between genetic polyrnorphisms of 3 single nucleotide polymorphisms (SNPs) in the elastin microfibril interfacer 1 (EMILIN1)gene and essential hypertension. Methods A case-control study was conducted in which 201 hypertensive patients and 202 healthy controls in Mongolian population were enrolled, and the genotypes of rs3754734, rs2011616 and rs2304682 loci were analyzed using polymerase chain reaction-restriction fragment length polyrnorphism (PCR-RFLP) and direct sequencing techniques. Results There were significant differences in the frequencies of alleles and genotypes for the rs2304682 between the hypertensives and normotensives in the population(P＜0. 05). The frequency of the G-G haplotype established by rs3754734 and rs2304682 was significantly higher in the hypertensive patients (P＜0. 05). The frequencies of alleles and genotypes for the rs2304682 also had significant differences between the group with high diastolic blood pressure and normal diastolic blood pressure (P＜0.05). There were no significant differences in the frequencies of alleles and genotypes for the 3 SNPs between the group with high systolic blood pressure and normal systolic blood pressure (P＞0.05). Conclusion The rs2304682 locus in the EMILIN1 gene, as well as the haplotypes G-G constructed using rs3754734 and rs2304682, may associate with the susceptibility of essential hypertension in the Mongolian population. Also, rs2304682 may associate with the level of the diastolic blood pressure.     

OX40基因rs2298212位点与汉族人群冠状动脉粥样硬化疾病的关联研究

Objective To study the association of the OX40 gene rs2298212G/A polymorphism with coronary atherosclerotic disease (CAD) in Chinese Han population. Methods Five hundred and thirty six CAD patients and 544 age and ethnic matched controls of Chinese Hah population were recruited from Qilu Hospital, Shandong University. Polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) was used to genotype the selected single nucleotide polymorphism. Distributions of genotypic and allelic frequencies were analyzed by Chi square test. Results The distribution of genotypic and allelic frequencies have no significant differences between the CAD cases and controls (P＞0.05), even after adjusting for age, gender, body mass index, systolic blood pressure, diastolic blood pressure, glucose, total cholesterol, and triglyceride. However, when substratification analysis of the involved coronary artery vessels was performed, significant difference was found between single-vessel and triple-vessel (P=0.02,OR=1.56,95%CI:1.08-2.26) involvement. Conclusion The rs2298212G/A polymorphism in OX40 gene may be associated with the severity of coronary atherosclerotic disease.     

OX40基因rs2298212位点与汉族人群冠状动脉粥样硬化疾病的关联研究

Objective To study the association of the OX40 gene rs2298212G/A polymorphism with coronary atherosclerotic disease (CAD) in Chinese Han population. Methods Five hundred and thirty six CAD patients and 544 age and ethnic matched controls of Chinese Hah population were recruited from Qilu Hospital, Shandong University. Polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) was used to genotype the selected single nucleotide polymorphism. Distributions of genotypic and allelic frequencies were analyzed by Chi square test. Results The distribution of genotypic and allelic frequencies have no significant differences between the CAD cases and controls (P＞0.05), even after adjusting for age, gender, body mass index, systolic blood pressure, diastolic blood pressure, glucose, total cholesterol, and triglyceride. However, when substratification analysis of the involved coronary artery vessels was performed, significant difference was found between single-vessel and triple-vessel (P=0.02,OR=1.56,95%CI:1.08-2.26) involvement. Conclusion The rs2298212G/A polymorphism in OX40 gene may be associated with the severity of coronary atherosclerotic disease.     

Relationship between nerve injury-induced protein gene 2 polymorphism and stroke in Chinese Han population

The aim of present study was to investigate the relationship between nerve injury-induced protein 2 (NINJ2) gene polymorphism and stroke in Chinese Han population.Fifty-two patients with large-artery atherosclerosis (LAA) infarction,85 patients with small-artery occlusion lacunar (SAO) infarction,50 patients with intracerebral hemorrhage (ICH) and 66 controls were included.Genotypes and alleles frequencies of the two single nucleotide polymorphisms (SNPs) of NINJ2 among different groups were analyzed and compared.In regard to rs12425791,the frequencies of the AG and AA+AG genotypes of the LAA and SAO groups were significantly higher than those in the control group;the frequency of the A allele of the SAO group was significantly higher than that of the control group.In regard to rs11833579,there were not any significant differences between the case and the control groups.The SNP rs12425791 is significantly associated with ischemic stroke,and the A allele increases the susceptibility to stroke.The SNP rs11833579 is not significantly associated with stroke.     

ACE和AT1R基因多态性与原发性高血压易感性及与替米沙坦降压疗效的关系

Objective To examine the association of the polymorphisms of ACE insertion/deletion (I/D) and AT1R A1166C with primary hypertension of Han population in Hunan Province and the efficacy of telmisartan. Methods Two hundred and eighty-five healthy controls (CON group) and 246 patients with primary hypertension (PH group) from Han population in Hunan Province were tested for ACE gene I/D mutation and AT1R gene A1166C allele mutation using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The genotypes and frequencies of allele were detected and compared between two groups. The PH group was subjected to a 12-week therapy with telmisartan and the outcome was compared with baseline. The correlation of gene polymorphisms with PH was analyzed with multiple Logistic regression. Results In PH patients, the frequencies of ACE genotypes were 25.2% for DD (62/246), 27.6% for ID (68/246) and 47.2% for II (116/246), and those of AT1R were 61.4% for AA (151/246), 31.3% for AC (77/246) and 7.3% for CC (18/246), with statistical differences in ID and AC frequencies as compared with CON group (P<0.05). Among these patients, differences were not found for frequencies of allele D and I (P>0.05) but appeared significant for A and C as compared with CON group (P<0.05). After 12-week therapy with telmisartan. favorable outcome was achieved in those with ACE DD and ID vs ACE II, the systolic blood pressure respectively decreased (26.31±9.16) mm Hg, (22.92±10.21) mm Hg and (15.67±8.94) mm Hg, 1 mm Hg=0.133 kPa, P<0.05, and also in those with AT1R AA vs AT1R AC and CC, the systolic blood pressure resptively decreased (15.00±8.64) mm Hg and (10.37±8.04) mm Hg with diastolic blood pressure decreased (14.36±6.01) mm Hg and (8.83±5.93) mm Hg, all P<0.05. The AT1R gene AC genotype was found to be an independent risk factor for PH. Conclusions ACE and AT1R gene polymorphisms are associated with PH in Han population in Hunan Province. Carriers of ACE/D or AT1R 1622A alleles have better efficacy with telmisartan therapy.     

白细胞介素12基因多态性与广西壮族人群骨关节结核易感性的关系

BACKGROUND: Interleukin-12 (IL-12) may function as an immune regulator in the pathogenesis of osteoarticular tuberculosis. OBJECTIVE: To explore the association of single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C with susceptibility to osteoarticular tuberculosis and serum interleukin-12 levels in Guangxi Zhuang population. METHODS: The single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C polymorphisms were detected by polymerase chain reaction-single base extension technique and direct DNA sequencing in 150 patients with osteoarticular tuberculosis (disease group) and 165 healthy individuals (control group) in Guangxi Zhuang population. The genotype and allele frequencies of IL-12 and the relationship of genotypes to the susceptibility to osteoarticular tuberculosis were analyzed. In addition, the association of genotypes of single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C with serum IL-12 levels were analyzed. RESULTS AND CONCLUSION: There was no significant difference in the genotype and allele frequencies of IL-12A rs568408 G/A and IL-12B rs3212227 A/C between the disease group and the control group (P > 0.05). Moreover, there was no difference in four haplotypes of IL-12 gene between the disease group and the control group (P > 0.05). Serum IL-12 levels in subjects with osteoarticular tuberculosis carrying the variant rs568408 GA/AA genotypes and wild-type rs568408 GG genotypes were similar (P > 0.05). Similarly, there was no significant difference in serum IL-12 levels between subjects with osteoarticular tuberculosis carrying the variant rs3212227 AC/CC genotypes and wild-type rs3212227 AA genotypes (P > 0.05). These findings suggest that the single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C polymorphisms are not associated with susceptibility to osteoarticular tuberculosis in Guangxi Zhuang population. 中国组织工程研究杂志出版内容重点：组织构建;骨细胞;软骨细胞;细胞培养;成纤维细胞;血管内皮细胞;骨质疏松;组织工程     

C3基因单核苷酸多态性与成人哮喘易感性的相关性研究

Objective To investigate the association between single nucleotide polymorphisms (SNPs) of the complement component 3 gene (C3) and adult asthma of Hans in southern China. Methods A casecontrol study was performed. Four hundred and eighty-four adult asthma patients diagnosed in Nanfang Hospital and Affiliated Hospital of Guangdong Medical College, and 553 healthy subjects were collected from 2006 to 2010 for the study. MassARRAY-IPLEX and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) techniques was used to determine the genotypes of the rs10402876 and rs366510 loci of C3 gene. Results Genotypes GG, GT and TT in the rs366510 locus, and genotypes GG, GT and TT in the rs10402876 locus were detected. A total of 98. 94 percent of samples were genotyped. There were no significant differences in genotype frequencies (χ2 =0. 346, P=0. 841 ) and allele frequencies (χ2 =0. 101,P=0. 751) of rs10402876 between the two groups. However, genotype and allele frequencies of the rs366510 locus were significantly different (χ2 = 9.759, P=0. 008, Bonferroni correction,P= 0. 016; χ2 = 5. 294, P= 0. 021, Bonferroni correction, P = 0. 042, respectively). Compared with genotypes GG+GT, genotype TT of rs366510 significantly increased the risk of asthma, with the odds ratio of 1. 471 (95 % confidence interval 1. 125-1. 923). Conclusion These results suggest that C3 gene could be associated with adult asthma of Han population in southern China.     

STAMP2基因多态性与新疆维吾尔族人原发性高血压的相关性研究

目的 探讨STAMP2基因功能区多态位点与新疆维吾尔族人原发性高血压的相关性.方法 采用以流行病学调查为基础的病例-对照研究,选取2047个维吾尔族人(包括810例高血压病患者和1237名对照)作为研究对象.首先在小样本维吾尔族高血压患者中测序筛查STAMP2基因功能区的变异位点,选取代表性变异位点应用TaqMan-PCR在大样本人群中进行基因型鉴定及病例-对照关联研究.结果 STAMP2基因的3个代表性变异位点rs8122、rs1981529及rs34741656基因型及等位基因分布在高血压组与对照组中差异无统计学意义(P＞0.05).Logistic回归分析发现3个位点不是高血压患病的危险因素(P＞0.05).rs8122、rs1981529及rs34741656不同基因型间收缩压、舒张压水平差异无统计学意义(P＞0.05).单倍型基因频率分布在高血压组与对照组中差异无统计学意义(P＞0.05).结论 STAMP2基因3个代表性单核苷酸多态性(rs8122、rs1981529及rs34741656)可能与新疆维吾尔族人原发性高血压无关.

Abstract：

Objective To investigate the relationship between the gene tic polymorphisms of the six transmembrane protein of prostate 2 gene (STAMP2)and essential hyper.tension in Xinjiang Uygur population. Methods The sequences of STAMP2 gene functional region were sequenced in Xinjiang Uygur population with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 2047 Uygur individuals, including 810 patients with hypertension and 1237 healthy subjects. The association of the genetic variations of the STAMP2 gene with hypertension in Uygur was analyzed. Results In the three representative variations (rs8122, rs1981529 and rs34741656) genotyped, there were no significant differences in genotype distribution and allele frequencies between the essential hypertension and control groups (P＞0. 05). In ANCOVA analysis, none of the polymorphisms was significantly associated with systolic blood pressure and diastolic blood pressure(P＞0.05). There were no significant differences in haplotype frequencies between the two groups either(P＞0. 05). Conclusion There was no association of the three polymorphisms (rs8122, rs1981529 and rs34741656) in the STAMP2 gene with essential hypertension in Xinjiang Uygur population.     

Toll样受体9基因启动子单核苷酸多态性与儿童变应性哮喘的相关性

Objective To investigate the distribution characteristics of the single nucleotide polymorphisms (SNPs) in the promoter region of the toll-like receptor 9 gene (TLR9)in Chinese Han children from Zhejiang province, and their associations with asthma susceptibility and phenotypes. Methods A case-control study was conducted. A total of 312 asthmatic children aged between 1.9 and 11.6 and 339 age matched healthy controls were enrolled in this study from April 2007 to November 2008. The -1486 C/T in rs187084 and -1237 C/T in rs5743836 loci of the TLR9 gene were genotyped by direct DNA sequencing of the PCR products. Serum levels of IFN-γ, IL-12 and IL-4 were detected by enzyme linked immunosorbent assay. Serum levels of total IgE were detected by chemiluminescence, and serum levels of ildren (P＜0.01). The CC genotype had the lowest levels of serum IFN-γand the highest levels of serum IL-4 among the three genotypes. There were no significant differences in these cytokines among the healthy controls (P＞0.05). No statistical differences of serum IL-12 were found among the three genotypes in the two groups (P＞0.05). (4) There were no significant differences of total IgE (log-transformed) among the three genotypes in the asthmatic children (P＞0. 05). Conclusion The -1237 C/T polymorphism of TLR9 gene was not detected in Chinese Han children in this study. The - 1486 C/T polymorphism was associated with the levels of serum IFN-γ and IL-4 in children with asthma.However, there were no correlations between the -1486C/T polymorphism and serum IL-12 levels, total IgE levels or asthmatic susceptibility.