Objective To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at...Objective To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at Qinghai-Tibet where the altitude is over 4 500 m above sea level. Methods A case-control study was conducted including 149 HAPE patients in the construction workers and 160 healthy controls randomly recruited from their co-workers, matching the patients in ethnicity, age, sex, lifestyle, and working conditions. Three polymorphisms of eNOS gene, T-786C in promoter, 894G/T in exon 7, and 27bp variable number tandem repeat (VNTR) in intron 4, were genotyped using polymerase chain reaction (PCR) and confirmed with DNA sequencing. Results The frequencies of 894T allele and heterozygous G/T of the 894G/T variant were significantly higher in HAPE patients group than in the control group (P=0.0028 and P=0.0047, respectively). However, the frequencies of the T-786C in promoter and the 27bp VNTR in intron 4 were not significantly different between the two groups. Haplotypic analysis revealed that the frequencies of two haplotypes (H3,T-T-b, b indicates 5 repeats of 27 bp VNTR; H6, C-G-a, a indicates 4 repeats of 27 bp VNTR) were significantly higher in HAPE patients (both P<0.0001). On the contrary, the frequencies of H1 (T-G-b) and H2 (T-G-a) were lower in HAPE patients than in healthy controls (both P<0.001). Conclusions Two haplotypes (T-T-b and C-G-a) may be strongly associated with susceptibility to HAPE. Compared with the individual alleles of eNOS gene, the interaction of multiple genetic markers within a haplotype may be a major determinant for the susceptibility to HAPE.展开更多
Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydro...Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydrofolate reductase gene(MTHFR)polymorphisms might influence the occurrence of coronary heart disease(CHD)in T2DM patients.The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD inT2DM patients.Methods A total of 197 subjects with T2DM were studied,of which 95 patients with CHD.The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method,and compared between patients with CHD and those without CHD.Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD(P=0.011).However,there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD.Furthermore,the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine(Hey)levels(≤15μmol/L)(P=0.006),while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hey levels(>15 μmol/L)(P=0.491).Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hey levels.展开更多
Objective To investigate the influence of vitamin D receptor （VDR） gene polymorphisms on susceptibility to type 1 diabetes mellitus （T1DM） in the Chinese Han population. Method One hundred and thirty-six Chinese ...Objective To investigate the influence of vitamin D receptor （VDR） gene polymorphisms on susceptibility to type 1 diabetes mellitus （T1DM） in the Chinese Han population. Method One hundred and thirty-six Chinese Han people, including 54 T1DM patients and 82 unrelated healthy subjects as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism for three restriction sites in the VDR gene, which were ApaI, TaqI, and BamL Results The frequency of B allele of BsmI site in VDR gene was significantly higher in T1DM patients than in healthy subjects （ P = 0. 033 ） while no difference was found between the two groups in the distribution of ApaI and TaqI polymorphisms. Conclusion The BsmI polymorphism of VDR gene may be associated with the susceptibihty to T1DM in the Chinese Han population of Beijing.展开更多
BACKGROUND:Genetic variations of the 5-lipoxygenase activating protein and leukotriene A4 hydrolase genes that confer an increased risk of ischemic stroke have implicated the family of leukotrienes as potential mediat...BACKGROUND:Genetic variations of the 5-lipoxygenase activating protein and leukotriene A4 hydrolase genes that confer an increased risk of ischemic stroke have implicated the family of leukotrienes as potential mediators of ischemic stroke.This study aimed to explore the association of ALOX5,LTA4 H and LTC4 S gene polymorphisms with ischemic stroke risk in a cohort of Chinese in east China.METHODS:This case-control study consisted of 690 patients with ischemic stroke and 690 controls.Polymorphisms of ALOX5 rs2029253 A/G,LTA4 H rs6538697 T/C,and LTC4 S rs730012 A/C were genotyped by the polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) analysis.The multivariate logistic regression model was used to exclude the effects of conventional risk factors on ischemic stroke.RESULTS:Carriers of C allele in rs730012 were more susceptible to ischemic stroke(OR:1.37;95%CI:1.08-1.73;P=0.009).The rs2029253 GG genotype showed a risk-reducing effect on ischemic stroke(OR:0.72;95%CI:0.55-0.93;P=0.013) while the rs6538697 CC genotype had an increased risk of ischemic stroke(OR:1.77;95%CI:1.09-2.89;P=0.022).The rs730012 variant was not associated with ischemic stroke risk after adjusting confounding factors(P>0.05).CONCLUSION:The present study suggested that gene polymorphisms in the leukotrienes pathway may exert influences,with independent genetic effects,on ischemic stroke susceptibility in a cohort of Chinese in east China.展开更多
Objective: To investigate the relationship between estrogen receptor(ER) gene and the clinical indexes associated with coronary heart disease (CHD). Methods: By means of polymerase chain reaction-restriction fragment ...Objective: To investigate the relationship between estrogen receptor(ER) gene and the clinical indexes associated with coronary heart disease (CHD). Methods: By means of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), we analyzed ER gene polymorphism in 84 CHD patients and 61 healthy subjects and non-CHD inpatients. The clinical indexes associated with CHD were analyzed in relation to the three ER genotypes. Results: There were significant differences in the incidence of hypertension (58.62%), fibrinogen (Fib) concentration (3.5±0.8 g/L), body mass index (BMI, 25.1±3.2), HDL-C concentration (1.0±0.2 mmol/L) between PP genotype group and other genotype groups (P<0.05). Conclusion: ER gene polymorphism may affect ER-mediated cardiovascular protective effect by modulating the expression of ER.展开更多
Objective Coronary heart disease （CHD） is a multifactorial disease. This meta-analysis was performed to evaluate the relationship between angiotensinogen gene polymorphisms and CHD in the Chinese population. Methods...Objective Coronary heart disease （CHD） is a multifactorial disease. This meta-analysis was performed to evaluate the relationship between angiotensinogen gene polymorphisms and CHD in the Chinese population. Methods We searched literature in pubmed （1990- 2010.8） and CNKI （1990-2010.8） for all the relevant studies on 2 angiotensinogen polymorphisms （M235T and T174M） and risk of CHD. The meta-analysis software Stata 10.0 was used for ascertaining heterogeneity among individual studies and for combining all the studies. Furthermore,Egger＇s test and sensitivity analysis were performed to insure authenticity of the outcome.Results Ten associations studies on 2 angiotensinogen polymorphisms （M235T and T174M） were included in this meta-analysis. In a combined analysis, the summary per-allele odds ratio for CHD of the M235T polymorphism was 1.374 （95% confidence interval, 1.019 to 1.852） and T174M polymorphism was 4.089 （95% confidence interval, 1.697 to 9.851）. Conclusions The M235T polymorphism had weak but statistically significant association with CHD while the T174M polymorphism was more strongly associated with a CHD risk in Chinese population, but further confirmation studies are needed展开更多
Objective.To investigate the distribution frequency of parathyroid hormone(PTH)gene polymorphism in healthy adults from Bejing area and to explore the association of PTH genotypes with bone mineral density(BMD).Method...Objective.To investigate the distribution frequency of parathyroid hormone(PTH)gene polymorphism in healthy adults from Bejing area and to explore the association of PTH genotypes with bone mineral density(BMD).Methods.PTH gene polymorphism was detected in270subjects by polymerase chain reaction(PCR)and PCR /restriction fragment length polymorphism(PCR /RFLP).The digestion products of restriction enzyme Bst B1were separated on1%agarose gels.PTH genotypes were confirmed by DNA sequences analysis.BMD was measured by dual-energy X-ray absorptiometry(DEXA,DPX -L ,Lunar).Results.Genotype frequencies of BB,Bb,bb were73.7%,25.9%and0.4%respectively in Beijing adults(P<0.01),67.1%,32.2%and0.7%in postmenopausal women,which was different from Japanese wom-en.We statistically compared bone mineral density at the lumbar2-4and proximal femur between BB and Bb genotypes.No obvious association was found between the BMD and PTH genotypes in Beijing women(P>0.05).Conclusion.PTH gene polymorphism is not associated with BMD in Chinese women.The further research to explore the genetic risk factors of osteoporosis should be committed.展开更多
Objective. To investigate whether the polymorphisms in the angiotensin converting enzyme (ACE) gene and angiotensinogen (AGT) gene are associated with essential hypertension. Methods. A case-control study was carried ...Objective. To investigate whether the polymorphisms in the angiotensin converting enzyme (ACE) gene and angiotensinogen (AGT) gene are associated with essential hypertension. Methods. A case-control study was carried out using 103 hypertensive (HT) and 131 normotensive (NT) subjects. The insertion/deletion(I / D ) polymorphism of the ACE gene and the methionine→threo- nine variant at position 235 (M235T) of the AGT gene were determined by the polymerase chain reaction (PCR) technique and PCR/restriction fragment length polymorphism (PCR/RFLP) analysis, respective- ly. Results. The differences of D allele frequency and genotype distribution of the ACE gene between NT and HT groups were statistically significant (X^2=18.12, P<0. 005 ). The T235 allele frequency of the AGT gene was 69% in NT Chinese group (approximately 1. 38 to l. 64 fold that in Caucasians), and was greater in female HT than in NT (0. 82 vs 0. 72, X^2= 8. l, P<0. 025). A correlation between M235T molecular variant of the AGT gene and I/D molecular variant of ACE gene to hypertension was found. Cbeclusions. The possession of D allele of the ACE gene might be a marker for predisposition to hyper- tension. The T235 allele of the AGT gene was more common in Chinese than in Caucasians, and might contribute to the risk for hypertension in female Chinese.展开更多
Objective To explore the relationship between polymorphisms of XbaI and MspI loci of apolipoprotein B （ApoB） gene and -75 bp,＋83 bp loci of apolipoprotein AI （ApoAI） gene and coronary heart disease （CHD） in Kaz...Objective To explore the relationship between polymorphisms of XbaI and MspI loci of apolipoprotein B （ApoB） gene and -75 bp,＋83 bp loci of apolipoprotein AI （ApoAI） gene and coronary heart disease （CHD） in Kazaks of Xinjiang Uyghur Autonomous Region,China.Methods These loci were analyzed by PCR-restriction fragment length polymorphism （PCR-PFLP）.Two hundred and five patients with CHD and two hundred and thirty six controls were involved.Results There were significant distinctions among low-density lipoprotein cholesterol （LDL-C）,triglyceride （TG） and the ApoAI/ApoB ratio between the two groups,but no significant distinction among the polymorphism frequencies of the four sites between the two groups.The polymorphism coalition frequency of X-/Ms＋＋/M1＋-/M2＋＋ （named Coalition 11） was significantly higher in CHD compared to the control group （14.6％ vs.7.2％,P ＜ 0.05）.The level of total cholesterol （TC） in Coalition 1 1 was significantly higher and the level of the ApoAI/ApoB ratio in Coalition 11 was significantly lower than Coalition 1～10 in CHD patients.The level of the ApoAI/ApoB ratio of Coalition 11 was significantly lower than the Coalition 1～10 in control group.The levels of ApoAI/ApoB ratio of Coalition 3 were significantly higher compared to Coalition 11 in the two groups,respectively.The level of LDL-C of Coalition 3 was significantly lower than in the Coalition 11 in control group.The level of TC of Coalition 5 was significantly higher than Coalition 3 in the CHD group.The level of the ApoAI/ApoB ratio of Coalition 5 was significantly lower than in Coalition 3 or Coalition 1～10 of the two groups,respectively.The level of LDL-C of Coalition 5 was significantly higher than in Coalition 3 in control group.The ratio of ApoAI/ApoB was negatively related to TC,LDL-C and was positively related to HDL-C,both in CHD and control groups.Conclusion Coalition 11 of the 4 loci polymorphisms of the ApoB and ApoAI genes was correlated with CHD in Kazaks,and perhaps the ratio of ApoAI/ApoB was the most diagnostic parameter related with CHD among all lipid parameters.CHD may also be associated with Coalition 5,and,perhaps,Coalition 3 may have been confirmed as a protection factor against CHD,if more samples were enrolled.展开更多
The polymorphisms of variable number of tandem repeats (VNTR) 3’to the apolipoprotein B (apo B) gene were investigated using polymerase chain reaction (PCR) in a sample of 103 patients with documented coronary heart ...The polymorphisms of variable number of tandem repeats (VNTR) 3’to the apolipoprotein B (apo B) gene were investigated using polymerase chain reaction (PCR) in a sample of 103 patients with documented coronary heart disease (CHD) and 100 healthy individuals selected from Chinese Han nationality.Twelve segregating alleles (3’β29 -51) were observed in the pooled total of 203 subjects. The most common allele was 3’β 37. followed by 3’β39 with frequencies of 0. 362 and 0. 296, respectively. This model of allele distribution was coincident with the results form different ethnic groups, but the relative frequencies of alleles were different. In comparison with the allele frequencies between the patients and controls,alleles bigger than 3’β39 (3’VNTR-B) were significantly more common among the patients than among the controls (P<0. 001). Moreover. in the CHD group patients with plasma levels of TC≥3.88 mmol/L,LDL-C≥2. 59 mmol/L and HDL-C<l. 16mmol/L had significantly higher frequencies of 3’ VNTR-B allele (P<0. 01). Therefore,it is suggested that 3’ VNTR-B allele might be involved in the development of coronary atherosclerosis, presumably through their influences on lipid metabolism.This study supported by “8. 5” grant from Ministry of PublicHealth.展开更多
The klotho gene has been identified as an aging suppressor that encodes a protein involved in cardiovascular disease （CVD）. The inac- tivation of the klotho gene causes serious systemic disorders resembling human ag...The klotho gene has been identified as an aging suppressor that encodes a protein involved in cardiovascular disease （CVD）. The inac- tivation of the klotho gene causes serious systemic disorders resembling human aging, such as atherosderosis, diffuse vascular calcification and shortened life span. Klotho has been demonstrated to ameliorate vascular endothelial dysfunction and delay vascular calcification. Fur- thermore, klotho gene polymorphisms in the human are associated with various cardiovascular events. Recent experiments show that klotho may reduce transient receptor potential canonical6 （TRPC6） channels, resulting in protecting the heart from hypertrophy and systolic dys- function. Fibroblast growth factor23 （FGF23） is a bone-derived hormone that plays an important role in the regulation of phosphate and vi- tamin D metabolism. FGF23 accelerates urinary phosphate excretion and suppresses 1,25-dihydroxy vitaminD3 （1,25（OH）2D3）synthesis in the presence ofFGF receptorl （FGFR1） and its co-receptor ldotho, principally in the kidney. The hormonal affects of circulating klotho pro- tein and FGF23 on vascular and heart have contributed to an understanding of their roles in the pathophysiology of arterial stiffness and left ventricular hypertrophy. Klotho and FGF23 appear to play a critical role in the pathogenesis of vascular disease, and may represent a novel potential therapeutic strategy for clinical intervention.展开更多
基金Supported by National Natural Science Foundation of China (30393130, 30470651)National Basic Research Program of China (973 Program) (2006BAI19B07, 2006CB504103)National Key Laboratory Specific Fund (2060204)
文摘Objective To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at Qinghai-Tibet where the altitude is over 4 500 m above sea level. Methods A case-control study was conducted including 149 HAPE patients in the construction workers and 160 healthy controls randomly recruited from their co-workers, matching the patients in ethnicity, age, sex, lifestyle, and working conditions. Three polymorphisms of eNOS gene, T-786C in promoter, 894G/T in exon 7, and 27bp variable number tandem repeat (VNTR) in intron 4, were genotyped using polymerase chain reaction (PCR) and confirmed with DNA sequencing. Results The frequencies of 894T allele and heterozygous G/T of the 894G/T variant were significantly higher in HAPE patients group than in the control group (P=0.0028 and P=0.0047, respectively). However, the frequencies of the T-786C in promoter and the 27bp VNTR in intron 4 were not significantly different between the two groups. Haplotypic analysis revealed that the frequencies of two haplotypes (H3,T-T-b, b indicates 5 repeats of 27 bp VNTR; H6, C-G-a, a indicates 4 repeats of 27 bp VNTR) were significantly higher in HAPE patients (both P<0.0001). On the contrary, the frequencies of H1 (T-G-b) and H2 (T-G-a) were lower in HAPE patients than in healthy controls (both P<0.001). Conclusions Two haplotypes (T-T-b and C-G-a) may be strongly associated with susceptibility to HAPE. Compared with the individual alleles of eNOS gene, the interaction of multiple genetic markers within a haplotype may be a major determinant for the susceptibility to HAPE.
基金the National Key Development Plan for Precision Medicine Research(project number:2017YFC0910004,running period:2018/03-2020/12)Jinan Science Project(project number:201602171,running period:2016/01-2018/12).
文摘Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydrofolate reductase gene(MTHFR)polymorphisms might influence the occurrence of coronary heart disease(CHD)in T2DM patients.The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD inT2DM patients.Methods A total of 197 subjects with T2DM were studied,of which 95 patients with CHD.The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method,and compared between patients with CHD and those without CHD.Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD(P=0.011).However,there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD.Furthermore,the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine(Hey)levels(≤15μmol/L)(P=0.006),while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hey levels(>15 μmol/L)(P=0.491).Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hey levels.
文摘Objective To investigate the influence of vitamin D receptor （VDR） gene polymorphisms on susceptibility to type 1 diabetes mellitus （T1DM） in the Chinese Han population. Method One hundred and thirty-six Chinese Han people, including 54 T1DM patients and 82 unrelated healthy subjects as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism for three restriction sites in the VDR gene, which were ApaI, TaqI, and BamL Results The frequency of B allele of BsmI site in VDR gene was significantly higher in T1DM patients than in healthy subjects （ P = 0. 033 ） while no difference was found between the two groups in the distribution of ApaI and TaqI polymorphisms. Conclusion The BsmI polymorphism of VDR gene may be associated with the susceptibihty to T1DM in the Chinese Han population of Beijing.
文摘BACKGROUND:Genetic variations of the 5-lipoxygenase activating protein and leukotriene A4 hydrolase genes that confer an increased risk of ischemic stroke have implicated the family of leukotrienes as potential mediators of ischemic stroke.This study aimed to explore the association of ALOX5,LTA4 H and LTC4 S gene polymorphisms with ischemic stroke risk in a cohort of Chinese in east China.METHODS:This case-control study consisted of 690 patients with ischemic stroke and 690 controls.Polymorphisms of ALOX5 rs2029253 A/G,LTA4 H rs6538697 T/C,and LTC4 S rs730012 A/C were genotyped by the polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) analysis.The multivariate logistic regression model was used to exclude the effects of conventional risk factors on ischemic stroke.RESULTS:Carriers of C allele in rs730012 were more susceptible to ischemic stroke(OR:1.37;95%CI:1.08-1.73;P=0.009).The rs2029253 GG genotype showed a risk-reducing effect on ischemic stroke(OR:0.72;95%CI:0.55-0.93;P=0.013) while the rs6538697 CC genotype had an increased risk of ischemic stroke(OR:1.77;95%CI:1.09-2.89;P=0.022).The rs730012 variant was not associated with ischemic stroke risk after adjusting confounding factors(P>0.05).CONCLUSION:The present study suggested that gene polymorphisms in the leukotrienes pathway may exert influences,with independent genetic effects,on ischemic stroke susceptibility in a cohort of Chinese in east China.
基金Supported by the Key Basic Research and Development Project of National "973" Program of China (G200057008) the Foundation for University Leading Teachers Sponsored by the Ministry of Education of China, and by Funds for Key Natural Science Research of
文摘Objective: To investigate the relationship between estrogen receptor(ER) gene and the clinical indexes associated with coronary heart disease (CHD). Methods: By means of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), we analyzed ER gene polymorphism in 84 CHD patients and 61 healthy subjects and non-CHD inpatients. The clinical indexes associated with CHD were analyzed in relation to the three ER genotypes. Results: There were significant differences in the incidence of hypertension (58.62%), fibrinogen (Fib) concentration (3.5±0.8 g/L), body mass index (BMI, 25.1±3.2), HDL-C concentration (1.0±0.2 mmol/L) between PP genotype group and other genotype groups (P<0.05). Conclusion: ER gene polymorphism may affect ER-mediated cardiovascular protective effect by modulating the expression of ER.
文摘Objective Coronary heart disease （CHD） is a multifactorial disease. This meta-analysis was performed to evaluate the relationship between angiotensinogen gene polymorphisms and CHD in the Chinese population. Methods We searched literature in pubmed （1990- 2010.8） and CNKI （1990-2010.8） for all the relevant studies on 2 angiotensinogen polymorphisms （M235T and T174M） and risk of CHD. The meta-analysis software Stata 10.0 was used for ascertaining heterogeneity among individual studies and for combining all the studies. Furthermore,Egger＇s test and sensitivity analysis were performed to insure authenticity of the outcome.Results Ten associations studies on 2 angiotensinogen polymorphisms （M235T and T174M） were included in this meta-analysis. In a combined analysis, the summary per-allele odds ratio for CHD of the M235T polymorphism was 1.374 （95% confidence interval, 1.019 to 1.852） and T174M polymorphism was 4.089 （95% confidence interval, 1.697 to 9.851）. Conclusions The M235T polymorphism had weak but statistically significant association with CHD while the T174M polymorphism was more strongly associated with a CHD risk in Chinese population, but further confirmation studies are needed
文摘Objective.To investigate the distribution frequency of parathyroid hormone(PTH)gene polymorphism in healthy adults from Bejing area and to explore the association of PTH genotypes with bone mineral density(BMD).Methods.PTH gene polymorphism was detected in270subjects by polymerase chain reaction(PCR)and PCR /restriction fragment length polymorphism(PCR /RFLP).The digestion products of restriction enzyme Bst B1were separated on1%agarose gels.PTH genotypes were confirmed by DNA sequences analysis.BMD was measured by dual-energy X-ray absorptiometry(DEXA,DPX -L ,Lunar).Results.Genotype frequencies of BB,Bb,bb were73.7%,25.9%and0.4%respectively in Beijing adults(P<0.01),67.1%,32.2%and0.7%in postmenopausal women,which was different from Japanese wom-en.We statistically compared bone mineral density at the lumbar2-4and proximal femur between BB and Bb genotypes.No obvious association was found between the BMD and PTH genotypes in Beijing women(P>0.05).Conclusion.PTH gene polymorphism is not associated with BMD in Chinese women.The further research to explore the genetic risk factors of osteoporosis should be committed.
基金National Natural Sciences Foundation of China! (39470630 )
文摘Objective. To investigate whether the polymorphisms in the angiotensin converting enzyme (ACE) gene and angiotensinogen (AGT) gene are associated with essential hypertension. Methods. A case-control study was carried out using 103 hypertensive (HT) and 131 normotensive (NT) subjects. The insertion/deletion(I / D ) polymorphism of the ACE gene and the methionine→threo- nine variant at position 235 (M235T) of the AGT gene were determined by the polymerase chain reaction (PCR) technique and PCR/restriction fragment length polymorphism (PCR/RFLP) analysis, respective- ly. Results. The differences of D allele frequency and genotype distribution of the ACE gene between NT and HT groups were statistically significant (X^2=18.12, P<0. 005 ). The T235 allele frequency of the AGT gene was 69% in NT Chinese group (approximately 1. 38 to l. 64 fold that in Caucasians), and was greater in female HT than in NT (0. 82 vs 0. 72, X^2= 8. l, P<0. 025). A correlation between M235T molecular variant of the AGT gene and I/D molecular variant of ACE gene to hypertension was found. Cbeclusions. The possession of D allele of the ACE gene might be a marker for predisposition to hyper- tension. The T235 allele of the AGT gene was more common in Chinese than in Caucasians, and might contribute to the risk for hypertension in female Chinese.
文摘Objective To explore the relationship between polymorphisms of XbaI and MspI loci of apolipoprotein B （ApoB） gene and -75 bp,＋83 bp loci of apolipoprotein AI （ApoAI） gene and coronary heart disease （CHD） in Kazaks of Xinjiang Uyghur Autonomous Region,China.Methods These loci were analyzed by PCR-restriction fragment length polymorphism （PCR-PFLP）.Two hundred and five patients with CHD and two hundred and thirty six controls were involved.Results There were significant distinctions among low-density lipoprotein cholesterol （LDL-C）,triglyceride （TG） and the ApoAI/ApoB ratio between the two groups,but no significant distinction among the polymorphism frequencies of the four sites between the two groups.The polymorphism coalition frequency of X-/Ms＋＋/M1＋-/M2＋＋ （named Coalition 11） was significantly higher in CHD compared to the control group （14.6％ vs.7.2％,P ＜ 0.05）.The level of total cholesterol （TC） in Coalition 1 1 was significantly higher and the level of the ApoAI/ApoB ratio in Coalition 11 was significantly lower than Coalition 1～10 in CHD patients.The level of the ApoAI/ApoB ratio of Coalition 11 was significantly lower than the Coalition 1～10 in control group.The levels of ApoAI/ApoB ratio of Coalition 3 were significantly higher compared to Coalition 11 in the two groups,respectively.The level of LDL-C of Coalition 3 was significantly lower than in the Coalition 11 in control group.The level of TC of Coalition 5 was significantly higher than Coalition 3 in the CHD group.The level of the ApoAI/ApoB ratio of Coalition 5 was significantly lower than in Coalition 3 or Coalition 1～10 of the two groups,respectively.The level of LDL-C of Coalition 5 was significantly higher than in Coalition 3 in control group.The ratio of ApoAI/ApoB was negatively related to TC,LDL-C and was positively related to HDL-C,both in CHD and control groups.Conclusion Coalition 11 of the 4 loci polymorphisms of the ApoB and ApoAI genes was correlated with CHD in Kazaks,and perhaps the ratio of ApoAI/ApoB was the most diagnostic parameter related with CHD among all lipid parameters.CHD may also be associated with Coalition 5,and,perhaps,Coalition 3 may have been confirmed as a protection factor against CHD,if more samples were enrolled.
文摘The polymorphisms of variable number of tandem repeats (VNTR) 3’to the apolipoprotein B (apo B) gene were investigated using polymerase chain reaction (PCR) in a sample of 103 patients with documented coronary heart disease (CHD) and 100 healthy individuals selected from Chinese Han nationality.Twelve segregating alleles (3’β29 -51) were observed in the pooled total of 203 subjects. The most common allele was 3’β 37. followed by 3’β39 with frequencies of 0. 362 and 0. 296, respectively. This model of allele distribution was coincident with the results form different ethnic groups, but the relative frequencies of alleles were different. In comparison with the allele frequencies between the patients and controls,alleles bigger than 3’β39 (3’VNTR-B) were significantly more common among the patients than among the controls (P<0. 001). Moreover. in the CHD group patients with plasma levels of TC≥3.88 mmol/L,LDL-C≥2. 59 mmol/L and HDL-C<l. 16mmol/L had significantly higher frequencies of 3’ VNTR-B allele (P<0. 01). Therefore,it is suggested that 3’ VNTR-B allele might be involved in the development of coronary atherosclerosis, presumably through their influences on lipid metabolism.This study supported by “8. 5” grant from Ministry of PublicHealth.
文摘The klotho gene has been identified as an aging suppressor that encodes a protein involved in cardiovascular disease （CVD）. The inac- tivation of the klotho gene causes serious systemic disorders resembling human aging, such as atherosderosis, diffuse vascular calcification and shortened life span. Klotho has been demonstrated to ameliorate vascular endothelial dysfunction and delay vascular calcification. Fur- thermore, klotho gene polymorphisms in the human are associated with various cardiovascular events. Recent experiments show that klotho may reduce transient receptor potential canonical6 （TRPC6） channels, resulting in protecting the heart from hypertrophy and systolic dys- function. Fibroblast growth factor23 （FGF23） is a bone-derived hormone that plays an important role in the regulation of phosphate and vi- tamin D metabolism. FGF23 accelerates urinary phosphate excretion and suppresses 1,25-dihydroxy vitaminD3 （1,25（OH）2D3）synthesis in the presence ofFGF receptorl （FGFR1） and its co-receptor ldotho, principally in the kidney. The hormonal affects of circulating klotho pro- tein and FGF23 on vascular and heart have contributed to an understanding of their roles in the pathophysiology of arterial stiffness and left ventricular hypertrophy. Klotho and FGF23 appear to play a critical role in the pathogenesis of vascular disease, and may represent a novel potential therapeutic strategy for clinical intervention.
