Distribution of rs8022522 and rs12894524 polymorphisms of miR-208 gene in Guangxi population / 西安交通大学学报(医学版)

【Objective】 To explore the distribution of polymorphisms of miR-208 genes rs8022522 and rs12894524 locus in Guangxi healthy population and compare the differences in the polymorphism distribution in different population. 【Methods】 SNPscan technology was used to detect genotypes of rs8022522 and rs12894524 from 297 healthy people in Guangxi, and the results were compared with other populations from Human genome Haplotype Map(HapMap) data. 【Results】 Three genotypes, namely, AA (2.7%), AG (24.2%) and GG (73.1%), in rs8022522 were found, with the allele frequencies of A and G being 14.8% and 85.2%. The genotypes of rs12894524 locus were TT (1.3%), TG (13.5%) and GG (85.2%), and the frequency of T and G allele was 8.1% and 91.9%, respectively. rs8022522 and rs12894524 locus genotypes and allele frequencies were significantly different from HapMap-CEU, HapMap- YRI and HapMap-TSI (P<0.05). Compared with HapMap-JPT and HapMap-CHB, there was no significant difference in genotype or allele frequency between the two sites (P>0.05). As for the blood lipid level among the three genotypes in rs8022522, the level of high density lipoprotein cholesterol (HDL-C) with GG genotype was significantly different from that in AG group (P<0.05). 【Conclusion】 The polymorphisms of rs8022522 and rs12894524 of miR-208 gene in Guangxi population are different from those in other regions to varying degrees. The polymorphism of rs8022522 locus is related to the level of HDL-C.

A study on genetic polymorphisms of rs600231 and rs4102217 loci in promoter of MALAT1 gene in Guangxi population / 临床检验杂志

Objective@#To investigate the single nucleotide polymorphisms (SNPs) of rs600231A/G and rs4102217 G/C in the promoter region of MALAT1 (metastasis associated in lung adenocarcinoma transcript 1) gene in the healthy population of Guangxi district and analyze the differences in the population among different regions. @*Methods@#The genotypes of rs600231A/G and rs4102217G/C of 207 healthy individuals in Guangxi were detected by SNPscan high-throughput technique. The genotype and allele frequency distributions were analyzed statistically with the data of HapMap-CEU (European population), HapMap-HCB (Beijing Han population), HapMap-JPT (Japanese population) and HapMap-YRI (African population) published by Human genome Haplotype Map (HapMap). @*Results@#There were three genotypes of AA (38.2%), AG (46.4%) and GG (15.4%) in rs600231A/G, and the differences were significantly different compared with the polymorphism of Japan and Africa population (HapMap-JPT and HapMap-YRI) (P＜0.05). Compared with HapMap-CEU, the genotype difference was not statistically significant (P＞0.05), but the allele distribution was statistically different (P＜0.05). The rs4102217 G/C polymorphism contained GG(75.4%), CG(23.2%) and CC(1.4%), and the polymorphisms were significantly different from those in European and Japanese populations (P＜0.05). There was no significant difference between gender in the polymorphisms of the two loci (P＞0.05). @*Conclusion@#The polymorphisms of rs600231A/G and rs4102217G/C in the MALAT1 promoter region were found in Guangxi healthy population, and the distribution of polymorphisms may be different in the population of various regions. @*@#

Polymorphism distribution of 5bp insertion/deletion in promoter region of LncRNA [STHX] GAS5 gene in population of Guangxi district / 临床检验杂志

Objective@#To investigate the characteristics of polymorphism distribution at the functional insertion/deletion locus rs145204276I/D in the promoter region of LncRNA GAS5 (growth-arrest specific transcript 5) gene in population of Guangxi district, and analyze the differences of polymorphism distribution of rs145204276I/D in the populations between Guangxi and other regions. @*Methods@#SNPscan high-throughput sequencing technique was used to detect rs145204276I/D locus in genotype of GAS5 gene of 289 subjects from Guangxi district, and the distribution frequencies of genotypes and alleles between different genders were analyzed. The differences of polymorphism distribution were compared with those in the database from the population of European (EUR), Japanese in Tokyo (JPT), South Asian (SAS), Admixed American (AMR), African (AFR), Chinese Han in Beijing (CHB), Nanjing, Jilin, Chongqing and Kunming which were published by 1000 genome project or reported in literatures. @*Results@#The frequencies of I/I, I/D and D/D genotypes of rs145204276I/D in GAS5 were 48.4%, 43.6% and 8.0%, respectively. The frequencies of I and D alleles were 70.2% and 29.8%, respectively. No significant difference of genotype and allele frequencies of rs145204276I/D was observed between different genders in Guangxi population ( P ＞0.05). The genotype and allele frequencies of rs145204276I/D in Guangxi population were significantly different from JPT, EUR, AFR, SAS and AMR populations ( P ＜0.05), but were not significantly different from those of Chinese Han population in Beijing, Nanjing, Jilin, Chongqing and Kunming ( P ＞0.05). @*Conclusion@#The distribution of LncRNA GAS5 gene rs145204276I/D polymorphism in Guangxi population was not different between men and women, and the polymorphism of LncRNA GAS5 gene was different from those of other regions in the world.

Association of single nucleotide polymorphisms of rs3819024 and rs8193037 loci of IL-17A gene with the risk of ischemic stroke / 中华医学遗传学杂志

OBJECTIVE@#To assess the association of polymorphisms of rs3819024 and rs8193037 loci in the promoter region of IL-17A gene with the risk of ischemic stroke (IS) among ethnic Han Chinese from Guangxi.@*METHODS@#The polymorphisms of rs3819024 and rs8193037 loci were detected by a SNaPshot assay and DNA sequencing among 392 IS patients and 443 healthy controls with matched age and gender.@*RESULTS@#The genotypes, dominant model, recessive model, and alleles of rs3819024 polymorphisms showed no significant difference between the two groups, with the P values calculated as 0.150, 0.227, 0.125, 0.594 and 0.202, respectively, and OR (95% CI) as 1.27(0.92-1.74), 1.28(0.86-1.91), 1.27(0.94-1.72), 1.10(0.78-1.54), and 1.13(0.94-1.38), respectively. The genotypes, dominant model, recessive model, and alleles of rs8193037 polymorphisms also showed no significant difference between the two groups, with the P values calculated as 0.722, 0.352, 0.863, 0.345 and 0.969, respectively, and OR (95% CI) as 0.94(0.65-1.35), 2.25(0.41-12.35), 0.97(0.68-1.38), 2.27(0.41-12.48), and 1.01(0.72-1.40), respectively.@*CONCLUSION@#Polymorphisms of the rs3819024 and rs8193037 loci of the IL-17A gene are not associated with the susceptibility to IS among ethnic Han Chinese from Guangxi.

Study of the Polymorphisms rs1491033A/C and rs1813389A/G in the miR-17-92 Gene Cluster Promoter Region in a Guangxi Population / 中国医科大学学报

Objective To investigate the distribution of the polymorphisms rs1491033A/C and rs1813389A/G in the promoter region of the miR-17-92 gene cluster in a normal population of Guangxi and compare this distribution with that in different ethnic groups. Methods We detected the genotypes of rs1491033A/C and rs1813389A/G of 275 people from Guangxi using the SNaPshot technique and DNA sequencing. We then analyzed the genotype and allele frequency distribution differences among different genders and groups. Results Three genotypes,AA,AC,and CC,were found for rs1491033A/C with frequency distributions of 21. 1％,53. 1％,and 25. 8％, respectively. There were significant differences in genotype and allele frequencies of rs1491033A/C between the Guangxi population and those of Europe and Africa,as published in the International HapMap project (P < 0. 05). Three genotypes,AA,AG,and GG were observed for rs1813389A/G with frequency distributions of 40. 0％,50. 2％,and 9. 8％,respectively. There were significant differences in the genotype and allele frequencies of rs1813389A/G between the Guangxi population and those of Europe,Beijing,Japan,and Africa (P <0. 05). However,there were no significant differences in genotype or allele frequencies of the rs1491033A/C or rs1813389A/G polymorphisms between genders in the Guangxi population (P > 0. 05). Conclusion There are different distributions of the rs1491033A/C and rs1813389A/G polymorphisms in the miR-17-92 gene cluster in different races and regions.

Association of single nucleotide polymorphisms of rs77418916 and rs8108402 in the miR-181 gene and risk of systemic lupus erythematosus in Chinese population of Guangxi region / 临床检验杂志

Objective To investigate the associations of single nucleotide polymorphism of ( SNP ) of rs77418916 and rs8108402 in miR-181 with the risk of systemic lupus erythematosus ( SLE) in the Chinese population of Guangxi. Methods The lymphocyte sub-sets were analyzed by flow cytometry. The SNPs of miR-181 gene were detected by single nucleotide primer extension assay with SNaP-shot and DNA sequencing method. The relative expressions of miR-181a and miR-181c in mononuclear cells were detected by real time RT-quantitative PCR. Results The polymorphism of rs8108402 locus contained CC, CT and TT genotypes. The frequencies of CT and TT genotypes as well as the dominant and recessive model were different significantly between SLE group and control group ( CT vs CC:OR=1.50, 95％CI:1.03 to 2.19, P=0.033; TT vs CC: OR=2.65, 95％CI: 1.18 to 5.98, P=0.019; CC/CT vs TT: OR=2.23, 95％CI:1.01 to 4.93, P=0.048;TT/CT vs CC:OR=1.61, 95％CI:1.12 to 2.31, P=0.010) . The polymorphism of rs77418916 locus contain AA, AT and TT genotypes, but no association between rs77418916 polymorphism and susceptibility of SLE was found. The rel-ative expressions of miR-181a and miR-181c genes in SLE group were down-regulated compared with control group ( Z=-3. 22, P<0.01 and Z=-3.24, P<0.01, respectively) , and the patients carrying rs8108402 CT and TT genotype showed lower level of miR-181c compared with the patients carrying CC genotype (Z=-2.51, P<0.05). The absolute numbers of CD3+, CD4+, CD8+ and NK cells were decreased significantly in SLE group compared with that of control group ( P<0.01) . Conclusion The polymorphism of miR-181c rs8108402 may associate with the susceptibility of Chinese SLE patients in Guangxi region. The risk of SLE may increase in the individ-uals caring CT or TT genotype by decreasing the expression of miR-181c gene.

The relationship between the expression of monocyte CD36 and carotid plaques in patients with rheumatoid arthritis / 中华风湿病学杂志

Objective To discuss the relationship between monocyte CD36 expression and carotid intima-media thickness (cIMT) in rheumatoid arthritis (RA) patients.Methods A total of 207 RA patients were divided into arteriosclerosis group and non-arteriosclerosis groups in accordance with the results of ultrasound in carotid artery,and semi-quantity score was used for cIMT in patients with RA.Risk factors of cIMT in RA patients were analyzed by Spearman correlation and Logistic regression analysis.Results C reactive protein (CRP),triglyceride (TG),tumor necrosis factor (TNF),interleukin-6 (IL-6) and monocyte CD36 expression were found to be statistically different between the two groups (P ＜0.05).Monocyte CD36 fluorescence intensity was negatively correlated with TNF,IL-6,CRP and cIMT in patients with RA (r=-0.344,P＜0.01;r=-0.646,P＜0.01;r=-0.160,P=0.021;r=-0.687,P＜0.01).Logistic analysis showed that monocyte CD36 was associated with the formation of artery atheromatous plaque in patients with RA [OR=1.580,95％CI (1.057,2.36l),P＜0.01].Receiver operating characteristic curve (ROC) curve analysis showed that monocyte CD36 fluorescence intensity was useful when the value with the area under curve was 0.926,the sensitivity and specificity was 83.7％ and 82.5％ respectively.Conclusion Monocyte CD36 fluorescence intensity is correlated with artery atheromatous plaque in patients with RA,monocyte CD36 fluorescence intensity may be a marker to estimate cIMT in RA patients.

Genetic polymorphism of rs9574 C/G of endothelial cell protein C receptor gene in Guangxi population / 临床与实验病理学杂志

Purpose To compare the difference of the genotype and allele of endothelial cell protein C receptor (EPCR)gene rs9574 C/G between Guangxi population and other ethnic groups.Methods The rs9574 C/G polymorphisms of EPCR in 130 cases of Guangxi population were detected by PCR and DNA sequencing.The distribution frequency of allele and genotype was compared with the other four ethnic groups (HapMap-CEU,HapMap-HCB,HapMap-JPT,HapMap-YRI),which was published by the human genome project.Results Three genotypes of CC,CT and TT were found in rs9574 C/G with the frequencies of 39.2％,46.2％,14.6％ respectively.the allele frequencies of C,T were 62.3％ and 37.7％.No significant difference was observed in the frequency of genotype and allele between male and female (P ＞ 0.05).There were significant differences in the genotype distribution among Guangxi population,HapMap-CEU and HapMap-YRI (P ＜ 0.05).Significant differences of allelic frequency were found among Guangxi population,HapMap-CEU,HapMap-JPT and HapMap-YRI.Condusion The polymorphisms of rs9574C/G in 3'-noncoding region of EPCR gene in Guangxi population were different in different regions and ethnic groups.

The distribution characteristics of interleukin-27 gene rs17855750 G/T and rs40837 A/G polymorphism of Zhuang populations in Guangxi / 重庆医学

Objective To investigate the distribution characteristics of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphism in Zhuang populations of Guangxi,and to compare the distribution differences of genotype and allele frequencies of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms among different races.Methods The interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms were detected by SNaPshot SNP genotyping technique on 168 persons in Zhuang populations of Guangxi,frequencies of genotype and allele of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms were analyzed in Zhuang populations,and was compared with the other four populations (HapMap-HCB,HapMap-JPT,HapMap-YRI,HapMap-TSI) from HapMap database.Results The most common genotype and allele of interleukin-27 gene rs17855750 G/T polymorphysms were TT(70.2％) and G(50.3％) in Zhuang populations of Guangxi,and the most common genotype and allele of interleukin-27 gene rs40837 G/T polymorphysms were AC(35.7 ％) and C(52.1 ％).There were no significant differences in the genotype and allele frequencies of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphysms between male and female gender in Zhuang populations of Guangxi(P＞0.05).The frequencies of allele and genotype distribution of IL-27 gene rs17855750 G/T polymorphisms were not significantly different when compared with HapMap-HCB(P＞0.05),but were significantly different when compared with HapMap-JPT,HapMap-TSI and HapMap-YRI(P＜0.01);The frequencies of allele and genotype distribution of intetleukin-27 gene rs40837 A/G polymorphisms were significantly different when compared with HapMap-HCB(P＜ 0.05),and were significantly different when compared with HapMap-JPT,HapMap-YRI and HapMap-TSI(P＜0.01).Conclusion There are significant differences in the frequencies of allele and genotype distribution of interleukin-27 gene rs17855750 G/T,rs40837 A/G between Zhuang populations and other ethnic populations,and this variation may lead to a variety of clinical manifestation and morbidity of some diseases.

The association of Polymorphisms of Nogo gene and nasopharyngeal carcinoma in Zhuang people in Guangxi / 实用医学杂志

Objective To investigate the relationship between genetic polymorphisms of Nogo gene and nasopharyngeal carcinoma in Zhuang ethnic group in Guangxi Province.Methods Nogo gene polymorphisms were analyzed between patients with nasopharyngeal carcinoma and healthy people as a control in Zhuang ethnic group in Guangxi province using PCR-SBE.Their genotype and allele frequency distribution were compared between case and control group.The frequencies of haplotypes were analyzed with SHEsis software between these two sites in different groups.Results There were no differences between the patients and controls in the genotype or allele frequencies of Nogo gene rs 17046518 site (P ＞ 0.05).But the frequency distribution of T allele was significantly different (P =0.003) in the rs12464595 site.The result of haplotypes analysis showed that GA haplotype and CA haplotype were significantly different between cases and control (P =0.045,P =0.002).Conclusion The CG haplotype,CA haplotype and T allele of Nogo gene rs12464595 site increase the risk of nasopharyngeal carcinoma among Zhuang ethnic group in Guangxi.

Association of SNP of leukocyte differentiation antigen-CD40 gene and its serum level with ischemic stroke / 中华预防医学杂志

<p><b>OBJECTIVE</b>To investigate the association of SNP of CD40 gene and its serum levels with ischemic stroke (IS).</p><p><b>METHODS</b>A total of 202 IS patients from a hospital of Baise city were enrolled in case group from May 2013 to November 2014. At the same time, 109 healthy people who had physical check-ups in the outpatient department at the same hospital were enrolled in the control group. All participants were from Guangxi Zhuang Autonomous Region and unrelated to each other. 3 ml venous blood were collected on the premise of informed consent. The single nucleotide polymorphisms of CD40 gene rs1883832 C/T, rs13040307 C/T, rs752118 C/T and rs3765459 G/A were analyzed using a Snapshot SNP genotyping assays, and the serum levels of CD40 were tested by ELISA. t-test was used to compare the serum levels of CD40 between the case and control group, and the genotypes at different locuses in case group; χ(2) test was used to compare the distribution differences of the CD40 gene locuses in different genotypes and allele between the case group and the control group; alleles was established as independent variables, the occurrence of the IS as dependent variable, and expressed relative risk with OR (95%CI) value.</p><p><b>RESULTS</b>In the case group, the frequency of CC, CT and TT genotypes in CD40 gene rs1883832 C/T were 21.78% (44/202), 49.51% (100/202) and 28.71% (58/202), respectively, and 33.17% (66/199), 48.74% (97/199), 18.09% (36/199) in the control group, respectively, the differences between the two groups was significant (χ(2)=9.57, P=0.008). The CD40 serum levels were (62.7 ± 24.5) pg/ml in the case group, which was higher than that in the control group (45.3 ± 17.2) pg/ml (t=8.97, P<0.001). The serum levels of TT and CT genotypes in CD40 gene were (65.9 ± 26.3) and (64.3 ± 25.9) pg/ml, respectively, and the differences were significant when comparing with CC genotype (t equaled 5.34 and 5.03, respectively, P<0.001). The risk of developing IS was 1.56 times higher in 1883832 T allele carriers than that in rs1883832 C allele carriers (OR=1.56, 95% CI: 1.18-2.06); Combined genotype analysis displayed that CD40 gene rs1883832 C/T, rs13040307 C/T, rs752118 C/T and rs3765459 G/A polymorphisms showed strong linkage disequilibrium, the case group TCCA haplotype was tested to be associated with a significantly increased risk of IS as compared with that in the control group(OR=2.49; 95%CI: 1.13-5.48).</p><p><b>CONCLUSION</b>CD40 gene rs1883832 C/T polymorphism and its TCCA haplotype were possibly associated with ischemic stroke, and the susceptibility gene for ischemic stroke may be rs1883832 T allele.</p>

Expression and clinical significance of P-selectin in colorectal cancer cells / 天津医药

Objective To investigate the expression and clinical significance of P-selectin in colorectal cancer cells. Methods The protein expression of P-selectin was detected by immunohistochemistry in colorectal cancer tissues ( n=116) and corresponding non-tumor normal mucosa(n=57). The differences of P-selectin expression in colorectal cancer tissues, corre?sponding non-tumor normal mucosa and the clinical pathological significance were compared and analysed in two groups. Results The expression of P-selectin protein was found not only in vascular endothelial cells but also in colorectal cancer cells. The positive rate of P-selectin expression was apparently higher in colorectal cancer cells (77.6%, 90/116) than that in normal mucosa (17.5%, 10/57,χ2=56.49, P0.05). Conclusion The high expression of P-seletin in colorectal cancer cells is an important characteristic of colorectal cancer.

Study of genetic polymorphisms of miR-146a,miR-149 gene in Guangxi popula-tion / 中国免疫学杂志

Objective:To study the frequencies of allele and genotype distribution of miR-146a C>G(rs2910164) and miR-149 T>C( rs2292832) gene, and to analyze the statistical differences between different racial and nationalities.Methods:The Polymerase Chain Reaction-Single Base Extension ( PCR-SBE) technique and DNA sequencing methods were used for the determination of the SNP in miR-146a C>G and miR-149 T>C gene,and compared with the European, African, Japanese and People in Beijing from the Human Genome Project (HapMap).Results:There were no statistical differences of allele and genotype distribution in miR-146a C>G,miR-149 T>C between female and male group (P>0.05).There were significant difference frequencies of allele and genotype distribution of miR-146a C>G and miR-149 T>C gene by compared with the European, African and People in Beijing( PG and miR-149 T>C in Guangxi populations, and there were significant differences by compared with other ethnic populations, which may play an important role in the human inherited disease research.

Distribution characteristics of rs10975521 A/T and rs1929992 A/G polymorphism of IL-33 gene in Guangxi population / 中国免疫学杂志

Objective: To study and explore the distribution characteristics of rs10975521A/T and rs1929992A/G polymorphism of the IL-33 gene in Chinese Guangxi population. To compare the frequency distribution differences of allele and genotype of two sites among different ethnic. Methods:The polymorphism of rs10975521A/T and rs1929992A/G of IL-33 gene in 283 subjects were analyzed with the methods of Single base extension (PCR-SEB) and DNA sequencing,and the distribution frequency and the differences between groups of that were analyzed statisticaly. Results:Three genotypes of AA,AT and TT were found in rs10975521A/T with the frequency distribution of 12. 7%,53. 0% and 34. 3% respectively and there was no significant difference between sexes of each genotype and allele frequency in the Guangxi population ( P>0. 05 ) . There were significant differences of the allele frequency of rs10975521A/T in the Guangxi population compared with that in the European (P 0. 05),but the differences of genotype frequency of rs1929992A/G was statistically significant compared with that in the European,han Chinese in Bejing and Japanese people ( P< 0. 05 ) . There were significant differences of the allele frequency between Guangxi population and European (P< 0. 01),han Chinese in Bejing(P< 0. 05). Conclusion: There are different degrees of discrepancy of rs10975521A/T and rs1929992A/G polymorphism of IL-33 gene among different race and region.

Association between peripheral monocyte CD36 expression and rheumatoid arthritis / 中华风湿病学杂志

Objective To investigate the association between peripheral monocyte CD36 expression and rheum-atoid arthritis (RA).Methods A total of 108 patients with RA and 108 healthy individuals were included between 2014 and 2015.Disease Activity Score (DAS)28-erythrocyte sedimentation rate (ESR) and DAS28-C reactive protein (CRP) were used to estimate disease activity in patients with RA,and monocyte CD36 fluorescence intensity was determined by using flow cytometry.Student's t test or Mann-Whitney U test was used to compare the differences between the two groups.The categorical data was compared using x2 test.Correlations between variables were analyzed with Spearman correlation,Logistic regression analysis was used to identify risk factors associated with RA,we used receiver operating characteristic (ROC) curve to estimate the performance of relevant variables for RA.Results Low density lipoprotein cholesterin (LDL-C) [(2.8±0.8) mmol/L,(2.6±0.6) mmol/L,t=-2.046,P=0.042],ESR[25.5(18.00,40.00) mm/1 h,10.00(4.60,10.00) mm/1 h,Z=-12.786,P＜0.01],CRP [15.9 (6.71,25.43) mg/L,2.28 (1.63,4.60) mg/L,Z=-7.980,P＜0.01] and monocyte CD36 expression [(0.44±0.22)×109/L,(081 ±0.26)×109/L,t=1 1.159,P＜0.01] was statistically different between the two groups.Of note,monocyte CD36 fluorescence intensity was negatively correlated with disease activity in patients with moderate and severe disease (r=-0.146,P=0.036;r=-0.259,P=0.007).In stepwise Logistic regression analysis,monocyte CD36 fluorescence intensity was independently associated with RA [OR=0.803,P=0.002,95％CI (0.791,0.820)].ROC curve analysis showed a significant performance with area under curve of 0.855 [95％CI (0.807,0.904);P＜0.01],the sensitivity and specificity were 80.6％ and 73.1％,respectively,the cutoff values was 0.570.Conclusion Monocyte CD36 fluorescence intensity was independently associated with RA in stepwise Logistic regression analysis.A correlation between monocyte CD36 fluorescence intensity and DAS28-CRP,DAS28-ESR was observed in RA patients.

Relationship between osteopontin gene genetic polymorphisms and susceptibility of nasopharyngeal carcinoma in Guangxi Zhuang people / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To evaluate the relationship between osteopontin gene genetic polymorphisms and susceptibility of nasopharyngeal carcinoma in Guangxi Zhuang people.</p><p><b>METHODS</b>With a hospital based case-control study, osteopontin gene polymorphisms were compared between patients with nasopharyngeal carcinoma and healthy outpatients as a controls in Zhuang population in Guangxi. The single nucleotide polymorphisms at rs1126772 and rs9138 sites of the osteopontin gene were determined by polymerase chain reaction-single base extension technique (PCR-SBE) and DNA sequencing technology. The comparison between genotype and allele frequency distribution differences in case and control group was accomplished by a χ(2) test. The frequencies of haplotypes in osteopontin gene in different groups were analyzed.</p><p><b>RESULTS</b>There were no differences between the patients and controls in the genotype or allele frequencies of osteopontin gene rs1126772 site (</p><p><b>GA/GG</b>OR = 0.94, 95%CI 0.37-2.37, χ(2) = 0.182, P = 0.891; AA/GG:OR = 0.86, 95%CI 0.35-2.12, χ(2) = 0.834, P = 0.773) or rs9138 site (</p><p><b>CA/CC</b>OR = 1.42, 95%CI 0.88-2.29, χ(2) = 2.023, P = 0.155; AA/CC:OR = 1.77, 95%CI 0.78-4.01, χ(2) = 1.901, P = 0.168). The frequency of GA haplotype in the patients was significantly higher than that in the controls (P = 0.003), and the GA haplotype was associated with a significantly increased risk of nasopharyngeal carcinoma (OR = 4.84, 95%CI 1.59-14.71).</p><p><b>CONCLUSION</b>The haplotype GA of osteopontin gene rs1126772 and rs9138 sites increases the risk of nasopharyngeal carcinoma in Guangxi Zhuang people.</p>

Single nucleotide polymorphisms research of osteopontin gene in Zhuang populations in Guangxi / 重庆医学

Objective To investigate the genotype and allele frequencies of osteopontin gene single nucleotide polymorphisms (SNP) rs11728697and rs9138 in Zhuang populations in Guangxi ,and to compare the distribution of osteopontin polymorphisms a‐mong different races .Methods The osteopontin gene rs11728697 and rs9138 polymorphisms were detected by SNaPshot SNP gen‐otyping technique in 150 Zhuang populations in Guangxi ,the genotype and allele frequencies of osteopontin gene rs 11728697 and rs9138 polymorphisms were analyzed in Zhuang populations compared with the other four populations (HapMap‐CEU ,HapMap‐YRI ,HapMap‐JPT ,HapMap‐HCB) from HapMap database .Results The most common genotype and allele of osteopontin gene rs11728697 polymorphism in Zhuang populations in Guangxi were CC(42 .7% ) and C(62 .7% ) ,and the most common genotype and allele of osteopontin gene rs9138 polymorphism were CA (51 .3% ) and C(63 .0% ) .There were no significant differences in the gen‐otype and allele frequencies of osteopontin gene rs11728697 and rs9138 polymorphisms between male and female groups ( P >0 .05) .The genotype and allele frequencies of osteopontin gene rs11728697 polymorphism were significantly differenct compared with HapMap‐CEU ,HapMap‐JPT and HapMap‐YRI(P 0 .05) .The genotype and allele frequencies of osteopontin gene rs9138 polymorphism were significantly differenct compared with HapMap‐CEU and HapMap‐YRI(P 0 .05) .Conclusion There are significant differences in the genotype and allele frequencies of osteopontin gene rs 11728697 and rs9138 polymorphisms between Zhuang populations and other ethnic populations ,and this variation might contribute for a varie‐ty of clinical manifestation and morbidity of some osteopontin related diseases .

Antiviral effects of dual-target antisense LNA by cationic liposomes in transgenic mice / 生物医学工程学杂志

This paper is aimed to investigate the inhibitory effects of hepatitis B virus (HBV) preC and C genes-specific antisense locked nucleic acid (LNA) on HBV replication and expression in transgenic mice. The antisense LNA, which was complementary to the preC and C gene region of HBV, was designed, synthesized, and injected into transgenic mice via the tail vein. Serum HBV DNA was tested with real-time PCR, and Serum HBsAg was tested with time-resolved fluorescence immune assay (TRFIA). Then the expression of HBcAg in the liver was detected with immuneohistochemistry. Serum ALB, ALT, BUN and CRea were measured with an antomatic biochemicall analyzer. It was found that 5 days after LNA injection, serum HBV DNA levels in the dual-target group were reduced by 53.72%, and serum HBsAg levels were decreased by 71.57%. These values were significantly higher than those in the control groups (P<0.05) and the expression levels of HBcAg in the liver were significantly lower than those in the control groups (P<0.05). The result also showed that there were no significant differences discovered in serum ALB, ALT, BUN and CR between the experiment groups and the control groups. The present study provides that antisense LNA targeting to both preC and C genes has shown strong inhibition on HBV replication and expression in transgenic mice, and stronger than target at single gene site.

Genetic polymorphism of CRYAB gene rs3212227 and rs6894567 in Chinese guangxi populations / 重庆医学

Objective To study the frequencies of allele and genotype distribution of alpha-B-crystallin (CRYAB ) gene rs3212227 and rs6894567 single nucleotide polymorphism (SNP) in Chinese guangxi populations ,and to Compare the distribution differences among different ethnic .Methods The CRYAB gene rs3212227 and rs6894567 polymorphisms were detected by the pol-ymerase chain reaction-single base extension (PCR-SBE) technique and DNA sequencing methods in 199 Chinese guangxi popula-tions ,frequencies of allele and genotype of CRYAB gene SNP loci ,rs3212227、rs6894567 were analyzed in guangxi populations com-pared with other the four populations (HapMap-CEU ,HapMap-YRI ,HapMap-JPT and HapMap-HCB) from Human Genome Pro-ject group (Hapmap) data .Results There were CRYAB gene polymorphisms in Guangxi populations .The frequencies of allele and genotype distribution of CRYAB gene rs3212227、rs6894567 polymorphisms had significant difference compared with HapMap-CEU and HapMap-YRI populations (P0 .05) .Conclusion The frequencies of allele and genotype distribution of CRYAB gene rs3212227、rs6894567 polymorphisms are significantly difference compared with others ethnic populations ,and this variation might account for a variety of clinical mani-festation and morbidity of of some CRYAB related diseases .

Difference in the polymorphism of exon 5 +3953C/T of interleukin-1 beta gene between Guangxi Zhuang population and Han population / 中国组织工程研究

BACKGROUND: Polymorphism of exon 5 +3953C/T of interleukin-1β (IL-1β) gene is found in some studies. This gene polymorphism is related to stomach cancer, rheumatism, arthritis and other diseases. However, what is the distribution property of genotype of IL-1β gene in Guangxi Zhuang population? OBJECTIVE: To observe the distribution of the polymorphism of exon 5 +3953C/T of 1L-1β gene in Chinese Guangxi Zhuang population and Han population, and compare its distribution with Caucasians and African white people.DESIGN: Contrast observation.SETTING: Department of Histology and Embryology,Youjiang Medical College for Nationalities.PARTICIPANTS: Persons who received the health examination in the Affiliated Hospital of Youjiang Medical College for Nationalities were recruited in the experiment. Among them, 155 were Zhuang nationality, including 80 male and 75 female, aged (37) years, and 195 were Han na tionality, including 100 male and 95 female, aged (38) years. Blood relationship was not found among them,and informed consents were obtained from all the participants.METHODS: This experiment was carried out in the Experimental Center for Medical Sciences,Guangxi Medical University from June 2003 to May 2005. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the polymorphism of exon 5 +3953C/T of IL-1β gene in Guangxi Zhuang population (n=155) and Han population (n=195).Genotype and allele frequency of IL-1β gene of healthy population were directly calculated with counting method, and they were compared between Caucasians and African white people combining with literatures.MAIN OUTCOME MEASURES: Comparison of genotype frequency and allele taking frequency of IL-1β gene (+3953) among different ethnic populations.RESULTS: Subjects who received healthy examination including 155 Guangxi Zhuang nationality and 195 Chinese Han nationality participated in result analysis. ①The frequencies of genotypes and allele of IL-1β gene (+3953C/T) were close between Guangxi Zhuang population and Han nationality (Frequency of genotype CC,CT TT and allele C and T of Zhuang population was 94.8％,5.2％,0,97.4％,2.6％,respectively,and that of Han population was 93.3％,6.7％,0,96.7％,3.3％,respectively,P＞0.05).②There were significant differences in genotype distribution and allele taking frequency of IL-1β gene between Caucasians,African white people and Guangxi Zhuang population,Han population (Frequency of genotype CC,CT TT and allele C and T of Caucasians was 52.2％,43.9％,3.9％,74.1％,25.9％,respectively,and that of African white people was 60.4％,33.2％,6.4％,76.4％,23.6％, respectively, P＜0.01).CONCLUSION: The distribution of polymorphism of exon 5 +3953C/T of IL-1β gene is close between Guangxi Zhuang population and Han population,but significant difference exists in comparison with Caucasians and African white people.