目的探讨载脂蛋白(apolipoprotein,apo)AⅠ-CⅢ基因簇的apoAⅠ/MspⅠ和apoCⅢ/SstⅠ基因多态性在心脑血管疾病低发的云南德宏傣族人群中的分布情况。方法2002年4~5月在云南德宏和昆明两地随机抽样168名傣族和72名汉族人,提取基因组DNA...目的探讨载脂蛋白(apolipoprotein,apo)AⅠ-CⅢ基因簇的apoAⅠ/MspⅠ和apoCⅢ/SstⅠ基因多态性在心脑血管疾病低发的云南德宏傣族人群中的分布情况。方法2002年4~5月在云南德宏和昆明两地随机抽样168名傣族和72名汉族人,提取基因组DNA后,应用聚合酶链反应-限制性片段长度多态性(PCR-restriction fragment length polym orphism,PCR-RFLP)技术检测apoAⅠ-CⅢ基因簇中apoAⅠ启动子区MspⅠ多态性(-75bpG/A和+83bpC/T)和apoCⅢ3′端非编码区的SstⅠ多态性。结果apoAⅠ-CⅢ基因簇的apoAⅠ/MspⅠ和apoCⅢ/SstⅠ的等位基因M1+、M1-、M2+、M2-、S+、S-在傣汉两民族的分布频率依次为傣族:0.735、0.265、0.938、0.062、0.310、0.690;汉族:0.715、0.285、0.917、0.083、0.347、0.653。apoAⅠ-CⅢ基因簇的这6个等位基因频率在傣汉两民族间无统计学意义(P>0.05)。比较分析21个不同人群apoAⅠ/MspⅠ基因多态性和35个不同人群apoCⅢ/SstⅠ基因多态性的结果表明,德宏傣族人群apoAⅠ-CⅢ基因簇多态性分布与同属于蒙古人种的人群接近,而与高加索人种和尼格罗人种有较大的差异性。结论apoAⅠ-CⅢ基因簇的apoAⅠ基因启动子区-75bp和+83bp位点的基因多态性可能是德宏傣族人群心脑血管疾病患病率较低的重要遗传因素。而apoCⅢ的S+等位基因在该人群中并不是心脑血管疾病患病的易感因子。傣族人群具有较低的心脑血管疾病患病率应归因于遗传因素和环境因素协同作用的结果。展开更多
9926542 癫痫患儿过早停用抗癫痫药物的随机前瞻性研究/Peters A C B//Neurol-ogy.-1998,50(3).-724~730 湘医图9926543 有高热惊厥病史患儿的癫痫的诊断及定位/Hamati-Haddad A//Neurol-ogy.-1998,50(4).-917~922 湘医图9926544 IA ...9926542 癫痫患儿过早停用抗癫痫药物的随机前瞻性研究/Peters A C B//Neurol-ogy.-1998,50(3).-724~730 湘医图9926543 有高热惊厥病史患儿的癫痫的诊断及定位/Hamati-Haddad A//Neurol-ogy.-1998,50(4).-917~922 湘医图9926544 IA 型17P 多基因族夏科马里病婴幼儿:临床和电生理研究/Garcia A//Neurology.-1998,50(4).-1061~1067湘医图9926545 药物的选择和治疗实际:败血症,化脓性髓膜炎[日]/远藤晃彦//周产医.-1998,28(10).-1291~1294 友谊医9926546 脑室周围白质软化症(PVL)的危机管理[日]/小保内俊雅//周产医.-1998,28(9).-1183~1188展开更多
Long-chain acyl coenzyme A synthetase(ACSL) is a member of the synthetase family encoded by a multigene family;it plays an important role in the absorption and transport of fatty acid.Here we review the roles of ACSL ...Long-chain acyl coenzyme A synthetase(ACSL) is a member of the synthetase family encoded by a multigene family;it plays an important role in the absorption and transport of fatty acid.Here we review the roles of ACSL in the regulating absorption and transport of fatty acid,as well as the connection between ACSL and some metabolic diseases.展开更多
Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome m criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previ...Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome m criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previous 3 mo associated with two or more of the following symptoms: improvement with defecation, onset associated with a change in the frequency of stool and/or onset associated with a change in form or appearance of stool. There is growing evidence regarding the genetic contribution in IBS, however the precise etiology of IBS is still unknown. The evaluation of the genetic influence is based on twin studies, familial aggregation and genetic epidemiological investigations. Most studies showed a concordance for IBS significantly greater in monozygotic than in dizygotic twins. The majority of the studies have shown that familial aggregation may represent exposures to a similar environment, as well as the influence of genetic factors. Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T〉C), and high-producer tumor necrosis factor genotype. Further studies are necessary to determine how genetic factors influence the clinical manifestations and therapeutical response in IBS patients.展开更多
Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in th...Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in the northern Han Chinese population. Methods We recnaited 731 hypertensive patients and 673 control subjects (the calculated power value was 〉 0.8). Genotyping was performed to identify C825T, C1429T and G(-350)A polymorphisms using the TaqMan assay. Comparisons of allelic and genotypic frequencies between cases and controls were made by using the chi-square test. Logistic regression analyses were performed to investigate the relationships between the three polymorphisms of GNB3 gene under different genetic models (additive, dominant and recessive models). Results The genotype dis- tribution and allele frequencies of C825T, C1429T and G(-350)A polymorphisms did not differ significantly between hypertensive patients and control subjects, either when the full sample was assessed, or when the sample was stratified by gender. No significant association was observed between C825T, C 1429T and G(-350)A polymorphisms and the risk of essential hypertension in any genetic model. Linkage dis- equilibrium was only detected between C825T and C 1429T polymorphisms. Haplotype analyses observed that none of the three estimated haplotypes significantly increased the risk of hypertension. Conclusions Our study suggested that the GNB3 gene polymorphisms [C825T, C 1429T and G(-350)A] were not significantly associated with essential hypertension in northern Han Chinese population.展开更多
AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF...AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs223 2596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk ofCRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44, 95% CI 1.94-6.10, P = 0.000). CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.展开更多
AIM: To study the polymorphisms of toll-like receptor 4 (TLR4) gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp and susceptibility to inflammatory bowel disease (IBD) in the Zhuang population from Guangxi,...AIM: To study the polymorphisms of toll-like receptor 4 (TLR4) gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp and susceptibility to inflammatory bowel disease (IBD) in the Zhuang population from Guangxi, China. METHODS: A case-control study was performed from February 2007 to October 2011 which included 146 Zhuang patients with IBD in the experimental group and 164 healthy Zhuang subjects who acted as the control group. All patients and healthy subjects were from the Guangxi Zhuang Autonomous Region of China. Genomic DNA was extracted from intestinal tissue by the phenol chloroform method. TLR4 gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp were amplified by polymerase chain reaction (PCR), and then detected by PCR-restriction fragment length polymorphism (RFLP). RESULTS: The TLR4 gene Asp299Gly was digested using Nco Ⅰ restriction enzyme, and a single band of 249 bp was observed which showed that it was a wild type (AA). The TLR4 gene Thr399Ile was digested using Hinf Ⅰrestriction enzyme and only the wild type (CC) was detected. In addition, the TLR2 gene Arg-677Trp was digested using Aci Ⅰ restriction enzyme and only the wild type (CC) was detected. The TLR2 gene Arg753Gln was digested using Pst Ⅰ restriction enzyme. Only the wild type (GG) as a single band of 254 bp was observed during RFLP. Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patients with Crohn's disease and ulcerative colitis both in the TLR4 gene Asp299Gly, Thr399Ile and the TLR2 gene Arg677Trp, Arg753Gln in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. CONCLUSION: The TLR4 gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp polymorphisms may not be associated with IBD in the Zhuang population from the Guangxi Zhuang Autonomous Region of China.展开更多
文摘目的探讨载脂蛋白(apolipoprotein,apo)AⅠ-CⅢ基因簇的apoAⅠ/MspⅠ和apoCⅢ/SstⅠ基因多态性在心脑血管疾病低发的云南德宏傣族人群中的分布情况。方法2002年4~5月在云南德宏和昆明两地随机抽样168名傣族和72名汉族人,提取基因组DNA后,应用聚合酶链反应-限制性片段长度多态性(PCR-restriction fragment length polym orphism,PCR-RFLP)技术检测apoAⅠ-CⅢ基因簇中apoAⅠ启动子区MspⅠ多态性(-75bpG/A和+83bpC/T)和apoCⅢ3′端非编码区的SstⅠ多态性。结果apoAⅠ-CⅢ基因簇的apoAⅠ/MspⅠ和apoCⅢ/SstⅠ的等位基因M1+、M1-、M2+、M2-、S+、S-在傣汉两民族的分布频率依次为傣族:0.735、0.265、0.938、0.062、0.310、0.690;汉族:0.715、0.285、0.917、0.083、0.347、0.653。apoAⅠ-CⅢ基因簇的这6个等位基因频率在傣汉两民族间无统计学意义(P>0.05)。比较分析21个不同人群apoAⅠ/MspⅠ基因多态性和35个不同人群apoCⅢ/SstⅠ基因多态性的结果表明,德宏傣族人群apoAⅠ-CⅢ基因簇多态性分布与同属于蒙古人种的人群接近,而与高加索人种和尼格罗人种有较大的差异性。结论apoAⅠ-CⅢ基因簇的apoAⅠ基因启动子区-75bp和+83bp位点的基因多态性可能是德宏傣族人群心脑血管疾病患病率较低的重要遗传因素。而apoCⅢ的S+等位基因在该人群中并不是心脑血管疾病患病的易感因子。傣族人群具有较低的心脑血管疾病患病率应归因于遗传因素和环境因素协同作用的结果。
基金Supported by the National Natural Science Foundation of China(81373465)
文摘Long-chain acyl coenzyme A synthetase(ACSL) is a member of the synthetase family encoded by a multigene family;it plays an important role in the absorption and transport of fatty acid.Here we review the roles of ACSL in the regulating absorption and transport of fatty acid,as well as the connection between ACSL and some metabolic diseases.
文摘Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome m criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previous 3 mo associated with two or more of the following symptoms: improvement with defecation, onset associated with a change in the frequency of stool and/or onset associated with a change in form or appearance of stool. There is growing evidence regarding the genetic contribution in IBS, however the precise etiology of IBS is still unknown. The evaluation of the genetic influence is based on twin studies, familial aggregation and genetic epidemiological investigations. Most studies showed a concordance for IBS significantly greater in monozygotic than in dizygotic twins. The majority of the studies have shown that familial aggregation may represent exposures to a similar environment, as well as the influence of genetic factors. Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T〉C), and high-producer tumor necrosis factor genotype. Further studies are necessary to determine how genetic factors influence the clinical manifestations and therapeutical response in IBS patients.
基金grants of the National High Technology Research and Development Program,grants of the National Eleventh Five-year Plan Program from the Ministry of Science and Technology of China,Beijing Natural Science Foundation
文摘Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in the northern Han Chinese population. Methods We recnaited 731 hypertensive patients and 673 control subjects (the calculated power value was 〉 0.8). Genotyping was performed to identify C825T, C1429T and G(-350)A polymorphisms using the TaqMan assay. Comparisons of allelic and genotypic frequencies between cases and controls were made by using the chi-square test. Logistic regression analyses were performed to investigate the relationships between the three polymorphisms of GNB3 gene under different genetic models (additive, dominant and recessive models). Results The genotype dis- tribution and allele frequencies of C825T, C1429T and G(-350)A polymorphisms did not differ significantly between hypertensive patients and control subjects, either when the full sample was assessed, or when the sample was stratified by gender. No significant association was observed between C825T, C 1429T and G(-350)A polymorphisms and the risk of essential hypertension in any genetic model. Linkage dis- equilibrium was only detected between C825T and C 1429T polymorphisms. Haplotype analyses observed that none of the three estimated haplotypes significantly increased the risk of hypertension. Conclusions Our study suggested that the GNB3 gene polymorphisms [C825T, C 1429T and G(-350)A] were not significantly associated with essential hypertension in northern Han Chinese population.
基金Supported by The Nationgal Natural Science Foundation of China,No.30571924
文摘AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs223 2596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk ofCRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44, 95% CI 1.94-6.10, P = 0.000). CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.
基金Supported by The Natural Science Foundation of Guangxi Zhuang Autonomous Region, China, No. 0832009the Chinese Traditional Medicine Science Foundation of Guangxi Zhuang Autonomous Region, China, No. GZKZ10-108
文摘AIM: To study the polymorphisms of toll-like receptor 4 (TLR4) gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp and susceptibility to inflammatory bowel disease (IBD) in the Zhuang population from Guangxi, China. METHODS: A case-control study was performed from February 2007 to October 2011 which included 146 Zhuang patients with IBD in the experimental group and 164 healthy Zhuang subjects who acted as the control group. All patients and healthy subjects were from the Guangxi Zhuang Autonomous Region of China. Genomic DNA was extracted from intestinal tissue by the phenol chloroform method. TLR4 gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp were amplified by polymerase chain reaction (PCR), and then detected by PCR-restriction fragment length polymorphism (RFLP). RESULTS: The TLR4 gene Asp299Gly was digested using Nco Ⅰ restriction enzyme, and a single band of 249 bp was observed which showed that it was a wild type (AA). The TLR4 gene Thr399Ile was digested using Hinf Ⅰrestriction enzyme and only the wild type (CC) was detected. In addition, the TLR2 gene Arg-677Trp was digested using Aci Ⅰ restriction enzyme and only the wild type (CC) was detected. The TLR2 gene Arg753Gln was digested using Pst Ⅰ restriction enzyme. Only the wild type (GG) as a single band of 254 bp was observed during RFLP. Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patients with Crohn's disease and ulcerative colitis both in the TLR4 gene Asp299Gly, Thr399Ile and the TLR2 gene Arg677Trp, Arg753Gln in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. CONCLUSION: The TLR4 gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp polymorphisms may not be associated with IBD in the Zhuang population from the Guangxi Zhuang Autonomous Region of China.