Distribution of polymorphisms at promoter region of miR-17-92 in Guangxi population and association of its polymorphisms and lymphocytes / 中国免疫学杂志

Objective:To investigate the distribution characteristics of polymorphisms of rs9515692C/T and rs1352743A/G in the promoter region of miR-17-92 gene cluster in Guangxi people and compare them with those of other ethnic groups and explore the association of its polymorphisms and lymphocytes.Methods:The rs9515692C/T and rs1352743A/G of miR-17-92 gene cluster were genotyped by using SNaPshot technique and DNA sequencing.Detection of the number of lymphocytes using flow cytometry.The differences of polymorphisms between groups were analyzed statistically.Results:No significant differences of genotype and allele frequency in the two SNPs was observed between different gender in the Guangxi population(P>0.05).However,there were significant differences in the distribution frequencies of genotype and allele of Europeans,Japanese and Africans in rs9515692C/T and rs1352743A/G (P<0.05).Conclusion:Polymorphisms of rs9515692C/T and rs1352743A/G are different in different people.In addition,rs9515692C/T polymorphism may be associated with the number of B cells.

Distribution characteristics of polymorphisms of interleukin-22 gene in Guangxi population and their association with serum lipid levels / 中国病理生理杂志

AIM:To investigate the distribution characteristics of interleukin-22(IL-22)gene rs2227485C/T and rs2227491A/G polymorphisms in Guangxi people and the distribution differences with other ethnic groups ,and to ex-plore the difference levels of common lipid indexes in different genotypes.METHODS:SNaPshot technique and DNA se-quencing were used in 280 Guangxi persons to examine IL-22 genotypes and to analyzed the distribution frequencies of allele and genotype in these sites.The distribution frequencies in different sexes ,and the differences between groups and diffe-rence levels of common lipid indexes in different genotypes were analyzed statistically.RESULTS:Three genotypes of CC ,CT and TT were found in rs2227485C/T with the frequency distribution of 17.1％,49.3％and 33.6％,respectively.No significant difference between different sexes of each genotype and allele frequency in the Guangxi population was observed(P>0.05).Compared with the distribution frequencies of genotype and allele in HapMap -TSI,HapMap-HCB,HapMap-JPT and HapMap-MEX,those in Guangxi population showed statistically significant differences(P<0.05).Three geno-types of AA,AG and GG were found in rs2227491A/G with the frequency distribution of 16.1％,52.8％and 31.1％,re-spectively.There was no significant difference between different sexes of each genotype and allele frequency in the Guangxi population(P>0.05).The significant differences of genotype frequencies among Guangxi population ,HapMap-TSI,Hap- Map-JPT and HapMap-MEX were detected(P <0.05 ).Compared with the other 4 populations ,allele frequencies in Guangxi population had significant difference(P <0.05).There were significant differences in the levels of HDL-C and LDL-C among the 3 genotypes of rs2227491A/G.The level of HDL-C had difference between AG/AA genotype and GG genotype.In addition,the level of LDL-C had difference between AG/GG genotype and AA genotype(P<0.05).CON-CLUSION:rs2227485C/T and rs2227491A/G polymorphisms of IL-22 gene have differences in different populations.The rs2227491A/G polymorphism may be associated with serum lipid levels.

Distribution of single nucleotide polymorphisms of arginine-vasopressin gene in Guangxi healthy population / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the distribution of single nucleotide polymorphisms (SNP) of arginine-vasopressin (AVP) gene rs66818855 and rs1078152 in Chinese Guangxi healthy population in comparison with that in different ethnic populations.</p><p><b>METHDOS</b>Polymerase chain reaction-single base extension (PCR-SBE) and DNA sequencing were used to detect the allele and genotype frequencies of AVP gene among 303 Chinese healthy individuals in Guangxi, China, and the results were compared with the reported frequencies in 4 other populations (HapMap-CEU, HapMap-YRI, HapMap-JPT, and HapMap-HCB) from Human Genome Project group (HapMap) data.</p><p><b>RESULTS</b>We found significant AVP gene polymorphisms in this Guangxi healthy population. The frequencies of allele and genotype of AVP gene rs66818855 and rs1078152 polymorphisms in this Guangxi population differed significantly from those in HapMap-CEU population (P<0.01), and allele frequencies of AVP gene rs66818855 polymorphism differed significantly from those in HapMap-YRI populations (P<0.05).</p><p><b>CONCLUSION</b>The distribution pattern of AVP gene polymorphisms in this Guangxi population is significantly different from that in other ethnic populations, which might account for the difference in the morbidity of AVP-related disease among different ethnic groups and may have important indications in the study of population genetics and anthropology.</p>

Distribution characteristics of rs1891385A/C and rs10975519C/T polymorphisms of interleukin-33 gene in Guangxi population / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the race- and gender-specific distribution characteristics of rs1891385A/C and rs10975519C/T polymorphism of interleukin-33 (IL-33) gene in Zhuang and Han populations.</p><p><b>METHODS</b>The polymorphisms of rs1891385A/C and rs10975519C/T of IL-33 gene in 283 subjects from Guangxi Zhuang Autonomous Region were analyzed with single base extension (PCR-SEB) and DNA sequencing to analyze the differences in their distribution frequencies between genders and between Zhuang and Han populations.</p><p><b>RESULTS</b>Three genotypes (AA, AC and CC) were found in rs1891385A/C with frequencies of 64.3%, 32.5% and 3.2%, respectively. The genotype and allele frequencies of rs1891385A/C in this Guangxi population showed no significant difference between Zhuang and Han subpopulations and between genders (P>0.05), but differed significantly from those in European and African black populations (P<0.01). Three genotypes (CC, CT and TT) were identified in rs10975519C/T with frequencies of 34.3%, 53.0%, and 12.7%, respectively, showing no significant ethnic or gender-specific differences in this population (P>0.05). The genotype frequency of rs10975519C/T in this population differed significantly from those in the European and Japanese populations (P<0.01), but the allele frequencies only showed significant differences from those in the European population (P<0.01).</p><p><b>CONCLUSION</b>rs1891385A/C and rs10975519C/T polymorphisms of IL-33 gene show a race-specific difference.</p>

Clinical value of detecting serum soluble CD163 level in patients with atrial fibrillation / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the relationship between atrial fibrillation (AF) and serum soluble CD163.</p><p><b>METHODS</b>A total of 336 patients with heart valve disease were included in this study, including 167 with AF and 169 with sinus rhythm. The clinical data were compared between the two grops, and Logistic regression analysis was used to identify the risk factors associated with AF.</p><p><b>RESULTS</b>The levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), tumor necrosis factor (TNF), interleukin-6 (IL - 6), high-sensitivity C-reactive protein (hs-CRP) and left atrial diameter (LAD) all differed significantly between the two groups (P<0.05). Serum soluble CD163 levels in AF patients were significantly higher than those in patients with sinus rhythm (P<0.05). Serum soluble CD163 was positively correlated with TNF (r=0.244, P=0.244), IL-6 (r=0.186, P=0.186), hs-CRP (r=0.183, P=0.183) and LAD (r=0.194, P=0.194) in patients with AF. Logistic regression analysis showed that LAD, IL-6, TNF, hs-CRP and CD163 were all associated with AF. ROC curve analysis showed that the area under curve of serum soluble CD163 was 0.861 in patients with AF (CI 95%: 0.820-0.901, P<0.01) with a sensitivity and a specificity of 80.8 and 76.9%, respectively.</p><p><b>CONCLUSION</b>Serum soluble CD163 level may be a risk factor for AF, and an increased soluble CD163 level may indicate active inflammation in AF patients.</p>

Association of the Single-Nucleotide Polymorphism and Haplotype of the Complement Receptor 1 Gene with Malaria

PURPOSE: Although the polymorphisms of erythrocyte complement receptor type 1 (CR1) in patients with malaria have been extensively studied, a question of whether the polymorphisms of CR1 are associated with severe malaria remains controversial. Furthermore, no study has examined the association of CR1 polymorphisms with malaria in Chinese population. Therefore, we investigated the relationship of CR1 gene polymorphism and malaria in Chinese population. MATERIALS AND METHODS: We analyzed polymorphisms of CR1 gene rs2274567 G/A, rs4844600 G/A, and rs2296160 C/T in 509 patients with malaria and 503 controls, using the Taqman genotyping assay and PCR-direct sequencing. RESULTS: There were no significant differences in the genotype, allele and haplotype frequencies of CR1 gene rs2274567 G/A, rs4844600 G/A, and rs2296160 C/T polymorphisms between patients with malaria and controls. Furthermore, there was no association of polymorphisms in the CR1 gene with the severity of malaria in Chinese population. CONCLUSION: These findings suggest that CR1 gene rs2274567 G/A, rs4844600 G/A, and rs2296160 C/T polymorphisms may not be involved in susceptibility to malaria in Chinese population.

Association of the integrin gene polymorphisms with ischemic stroke and plasma lipid levels / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the association of integrin alpha-2 (ITGA2) gene C807T, integrin beta-3 (ITGB3) gene T176C polymorphisms with ischemic stroke and the effect of the polymorphisms on plasma lipid and lipoprotein levels.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing were used to detect the integrin genotypes in 265 patients with ischemic stroke and 280 healthy controls. The plasma lipid and lipoprotein levels were measured by routine method.</p><p><b>RESULTS</b>Plasma total cholesterol (TC), triacylglycerol (TG) and low density lipoprotein-cholesterol (LDL-C) in the patients with ischemic stroke were significantly higher than those in the controls (P< 0.05). The distributions of the ITGB3 gene T176C polymorphism were not different between the ischemic stroke group and control group, but the ITGA2 gene C807T polymorphism was significantly different. The relative risk suffering from ischemic stroke of the T allele carrier was 1.455 times as that of the C allele carrier (OR=1.455, 95%CI: 1.134-1.866). The level of plasma lipid in the T allele carriers was significantly higher than that in the C allele carriers (P< 0.05).</p><p><b>CONCLUSION</b>The ITGA2 gene C807T polymorphism was associated with ischemic stroke, the 807 T allele may be a genetic risk factor for ischemic stroke. The ITGA2 gene C807T polymorphism may affect ischemic stroke through plasma lipid and lipoprotein levels.</p>

Association of interleukin-18 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of the single nucleotide polymorphisms of interleukin-18 (IL-18) gene with the susceptibility to systematic lupus erythematosus (SLE) in a Chinese Zhuang population.</p><p><b>METHODS</b>Two single nucleotide polymorphisms of the IL-18 gene promoter were analyzed, namely -137G/C and -607C/A, in 115 patients with SLE and 160 age and sex-matched controls in a Chinese Zhuang population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing.</p><p><b>RESULTS</b>The IL-18 gene -607C/A polymorphism was significantly different between the SLE and control group (P < 0.05). The relative risk of SLE for -607C allele carrier was 1.619 times of the -607A allele carriers (OR=1.619, 95%CI: 1.150-2.281). Consistent with the results of the genotyping analyses, IL-18 -137G/-607C allele frequencies in patients with SLE was significant higher than that in controls (P < 0.05). The -137G/-607C allele was associated with a significantly increased risk of SLE (OR=1.484, 95%CI: 1.056-2.087). However, there was no difference of the distributions of the -137G/C polymorphism of the IL-18 gene between the SLE and control groups.</p><p><b>CONCLUSION</b>IL-18 gene -607C/A polymorphism was associated with SLE, the -607C allele may be a risk factor for SLE.</p>

Correlation of polymorphisms of interleukin-2 gene and HBV DNA copies in patients with chronic hepatitis B / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To investigate the relationships of polymorphisms of interleukin-2 (IL-2) gene to the susceptibility of chronic hepatitis B, and to analyze the frequencies of IL-2 gene polymorphisms and the HBV-DNA copies in patients with chronic hepatitis B.</p><p><b>METHODS</b>Two single nucleotide polymorphisms of IL-2 gene promoter -385T/G and +114T/G at exon one were analyzed in 155 patients with chronic hepatitis B and in 170 age- and sex-matched controls from a Chinese population. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing were used, and the serum HBV DNA in these patients was determined by real-time PCR.</p><p><b>RESULTS</b>There were no differences in the distributions of IL-2 gene +114T/G polymorphism in the patient group and the controls, but their IL-2 gene -385T/G polymorphisms were significantly different (P less than 0.05). The relative risk of being chronic hepatitis B victims with T allele was 1.490 times of those with G allele (OR=1.490, 95% CI: 1.085-2.046). The association between the genotype of IL-2 gene polymorphisms and HBV-DNA copies showed that the frequency of -385G allele carriers in high HBV-DNA copy group was closer than that in low HBV-DNA copy group (chi2=6.051, P=0.014).</p><p><b>CONCLUSIONS</b>IL-2 gene -385T/G polymorphism is associated with chronic hepatitis B and G allele is an important genetic susceptibility gene for chronic hepatitis B. In IL-2 gene -385G allele carriers the risk of increasing HBV-DNA copies may be related to the pathogenesis of chronic hepatitis B.</p>

Effection of observation Xinnaoxin capsules in treatment of chronic cerebral circulatory insufficiency / 中国中药杂志

<p><b>OBJECTIVE</b>To observe the therapeutic effect of Xinnaoxin capsules in patients with chronic cerebral circulatory insufficiency.</p><p><b>METHOD</b>Patients with chronic cerebral circulatory insufficiency were divided randomly into two groups: a Xinnaoxin capsules group (n = 60, treated by Xinnaoxin capsules for four 4 weeks), a control group (n = 58, treated by Nimodiping for four weeks). The transcranial doppler (TCD) was used to determined mean velocity (Vm) and auto-viscometer measured hemorheological indices before and after being treated.</p><p><b>RESULT</b>After 4 weeks treatment, the hemorheological indices and mean velocity were obviously improve in Xinnaoxin capsules group (P <0.05), there is significant difference between the effective rate of two groups (88.3%, 70.7%).</p><p><b>CONCLUSION</b>Our study suggest that Xinnaoxin capsules have therapeutic function on chronic cerebral circulatory insufficiency.</p>

Study on the intercellular molecule-1 polymorphisms in an Chinese population with myocardial infarction / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the association between intercellular adhesion molecule-1 (ICAM-1) gene + 12959G/A and + 13848A/G polymorphism and myocardial infarction (MI).</p><p><b>METHODS</b>Polymerase chain reaction-sequence specific primers (PCR-SSP) technology and PCR-restriction fragment length polymorphism(PCR-RFLP) were used for the detection of ICAM-1 genotypes in 165 patients with MI(including acute MI and old MI) and 199 healthy controls. Plasma lipid levels and hyper sensitive C reactive protein (quantitive ELISA method was used) levels were measured in all subjects.</p><p><b>RESULTS</b>+ 12959G/A polymorphism was not detected in our study. The frequencies of AA,AG and GG Genotypes of + 13848A/G were 58.2% and 45.7%, 37.0% among patients and 45.2%, 4.8% and 9.0% among controls,respectively. There were statistically significant differences in the distributions of the genotype frequencies (P<0.05) between two groups, and the relative risk suffered from MI of AA genotype was 1.651 times of the GG and GA genotype (OR = 1.651, 95% CI: 1.089-2.504).</p><p><b>CONCLUSION</b>There was no + 12959G/A polymorphism found in Chinese people. The coding single nucleotide polymorphism + 13848 A/G in the exon 6 of ICAM-1 gene was associated to MI and the allele A might serve as a risk factor for MI in Chinese.</p>

Intercellular adhesion molecule-1 gene K469E polymorphism and genetic susceptibility of ischemic stroke in Chinese Zhuang populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To examine the relationship between intercellular adhesion molecule-1 (ICAM-1) gene polymorphism and ischemic stroke (IS) in Chinese Zhuang populations.</p><p><b>METHODS</b>The K469E polymorphism in the exon 6 of ICAM-1 gene was detected by polymerase chain reaction-restriction fragment length polymorphism analysis and DNA sequencing in 205 patients with IS of Zhuang nationality and in 210 healthy controls, and the serum level of ICAM-1 was determined by enzyme-linked immunosorbent assay.</p><p><b>RESULTS</b>The IS group showed significantly higher serum levels of ICAM-1 than did the control group (P < 0.01). There was significant difference in frequencies of allele and genotype in K469E polymorphism between IS and control groups, respectively (P < 0.05). The K allele carriers had 1.424 times the risk of suffering from IS as compared with the E allele carriers (OR = 1.424, 95% CI: 1.071 - 1.894); the serum ICAM-1 level of E allele carriers was significantly higher than that of K allele carriers (501.24 +/- 139.56 ng/ml vs 475.17 +/- 118.35 ng/ml, P < 0.01).</p><p><b>CONCLUSION</b>There is an association between ICAM-1 gene K469E polymorphism and IS, and E allele may be a genetic risk factor of IS among Guangxi Zhuangs, in which the ICAM-1 E allele carriers may have up-regulated expression of ICAM-1 and hence are at a higher risk of ischemic stroke.</p>

Distribution of E-selectin gene polymorphism in the Zhuangs and Hans of Guangxi province in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To unveil the distribution of E-selectin G98T polymorphism in exon 2 and the S128R polymorphism in exon 4 of the Chinese Zhuang and Han ethnic groups in Guangxi province.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), gene sequencing and DNA sequencing were performed on 162 healthy Zhuangs and 170 healthy Hans.</p><p><b>RESULTS</b>The allele frequencies of G, T for E-selectin polymorphism in the exon 2 were 94.8% and 5.2% in Zhuangs, 95.3% and 4.7% in Hans, respectively; The allele frequencies of S, R for E-selectin polymorphism in the exon 4 were 92.0% and 8.0% in Zhuangs, 95.9% and 4.1% in Hans, respectively. There was significant difference in frequencies of genotype and allele in E-selectin S128R polymorphism between Zhuangs and Hans(chi-square test=4.482, P=0.034).</p><p><b>CONCLUSION</b>There was significant difference in the E-selectin S128R polymorphism between Zhuangs and Hans. There was no significant difference in the E-selectin G98T polymorphism between Zhuangs and Hans.</p>