Objective: To investigate the association of Glu298Asp polymorphism of theeNOS gene with essential hypertension in elderly people. Methods: Ninety-five cases of essentialhypertension were randomly chosen from outpatie...Objective: To investigate the association of Glu298Asp polymorphism of theeNOS gene with essential hypertension in elderly people. Methods: Ninety-five cases of essentialhypertension were randomly chosen from outpatients and inpatients as the study group, and an equalnumber of sexes, age-matched healthy people as the control group. Their height, weight and bloodpressure were recorded and their fasting plasma lipid concentrations were measured. Glu298Asppolymorphism of the eNOS gene was measured using the methods of PCR and RFLP. Results: Theconstituent ratio of Genotype Glu/Asp in the study group (26.3%) was higher than that in the controlgroup (12.6%, x^2 = 5. 67, P<0.05), the allelic frequency of 298Asp in the study group (13.2%) wassignificantly higher than that in the control group (6.3%, x^2 = 5.06, P<0.05). Conclusion: Glu298Asp variant of the eNOS gene may be an independent predictor in essential hypertension.展开更多
AIM:To investigate the contribution of fucosyltransferase 2 (FUT2) variants to the genetic susceptibility and clinical heterogeneity of ulcerative colitis (UC) between Han and Uyghur patients in Xinjiang, China. METHO...AIM:To investigate the contribution of fucosyltransferase 2 (FUT2) variants to the genetic susceptibility and clinical heterogeneity of ulcerative colitis (UC) between Han and Uyghur patients in Xinjiang, China. METHODS:A total of 102 UC patients (53 Han patients including 22 men and 31 women, and 49 Uyghur patients including 25 men and 24 women; aged 48 ± 16 years) and 310 age-and sex-matched healthy controls were enrolled from January 2010 to May 2011 in Xinjiang People's Hospital of China. UC was diagnosed based on the clinical, endoscopic and histological findings following Lennard-Jones criteria. Blood samples were collected and genomic DNA was extracted by the routine laboratory methods. Polymerase chain reaction-sequence-based typing method was used to identify FUT2 variants rs281377, rs1047781, rs601338 and rs602662. Genotypic and allelic frequencies were documented and compared between the UC patients and the healthy controls. Genotypic frequencies were also compared between Han and Uyghur patients. Potential association of genetic variation and UC between Han and Uyghur patients was examined. RESULTS: rs281377 was found significantly associated with UC in the Han population as compared with the controls (P = 0.011) while rs281377 was not associated with UC in the Uyghur population (P = 0.06). TT homozygous rs281377 frequencies were higher in the UC groups than in the controls (88.7% vs 68.7% and 55.1% vs 50.3%). rs1047781 was specifically associated with UC in the Uyghur population (P = 0.001), but not associated with UC in the Han population (P = 0.13). TT homozygous rs1047781 frequencies were lower in the UC groups than in the controls (9.5% vs 11.8% and 4.0% vs 6.7%). rs601338 was statistically related to UC in both populations (Han, P = 0.025; Uyghur, P = 8.33 × 10 -5 ). AA homozygous rs601338 frequencies were lower in the UC groups than in the controls (0% vs 1.8% and 12.2% vs 13.4%). No association was found between rs602662 and UC in both Han and the Uyghur populations. Allelic analysis showed that rs281377 allele was significantly associated with UC in the Han population as compared with the controls [P = 0.001, odd ratio (OR) = 0.26], however, it was not associated with UC in the Uyghur population (P = 0.603, OR = 1.14), and rs1047781 allele was associated with UC in the Uyghur population (P = 0.001, OR = 0.029) while it was not associated with UC in the Han population (P = 0.074, OR = 0.62). Moreover, rs601338 was associated with UC in both Han (P = 0.005, OR = 0.1) and Uyghur pop- ulations (P = 0.002, OR = 0.43). Meta analysis showed that rs1047781 and rs601338 conferred risk of UC as compared with the controls [P = 0.005, OR = 0.47; P = 0.0003, OR = 0.35; 95% confidence interval (CI) = 0.31-0.72 and 0.21-0.58], but rs281377 and rs602662 showed no statistically significant differences betweenpatients with UC and controls (P = 0.10, OR = 0.71; P = 0.68, OR = 0.09; 95% CI = 0.47-1.07 and 0.56-1.47). CONCLUSION:Functionally relevant FUT2 gene variants are associated with UC, suggesting that they play a potential role in the pathogenesis of UC and may contribute to the clinical heterogeneity of UC between Han and Uyghur patients.展开更多
BACKGROUND：Matrix metalloproteinase-9 （MMP-9） plays a pivotal role in early atherosclerosis, vascular remodeling and development of atherosclerotic lesion. The potentially functional MMP-9 gene polymorphism may con...BACKGROUND：Matrix metalloproteinase-9 （MMP-9） plays a pivotal role in early atherosclerosis, vascular remodeling and development of atherosclerotic lesion. The potentially functional MMP-9 gene polymorphism may contribute to the susceptibility of acute coronary syndrome （ACS）. This study aimed to investigate the association between two single nucleotide polymorphisms （-1562C〉T, R279Q） of the MMP-9 gene in patients with ACS in the Uygur population of China. METHODS：This case-control study was composed of 361 ACS patients and 432 control subjects, who had undergone coronary angiography. Among the ACS patients, 162 （44.9%） had single-vessel disease, 145 （40.2%） had two-vessel disease, and 54 （14.9%） had three-vessel disease. The genotypes of the two selected SNPs were determined by the method of polymerase chain reaction and restriction fragment length polymorphism （RFLP-PCR）. The relationship between the polymorphism of the MMP-9 gene and the severity of coronary arterial stenosis was analyzed.RESULTS： Analysis of the two SNPs showed that the frequency of CT and TT genotypes in patients with ACS was significantly higher than that in the control group （ACS vs. controls; CT＋TT： 25.5% vs. 15.8%, P=0.001）. And the -1562 gene allele （C/T） was significantly associated with acute coronary syndrome （ACS vs. controls; C allele： 85.7% vs. 91.5%, T allele： 14.3% vs. 8.5%, P〈0.001）. But the frequencies of CT＋TT and CC genotypes were not statistically different among ACS patients with one, two and three or more significantly diseased vessels （P=0.55）. The R279Q polymorphism site with regard to the association with ACS was not significant （P〉0.05）. The presence of CT or TT genotypes, assuming codominant effect of the T allele, was independently associated with increased risk of coronary artery disease when adjustment was made for age, body mass index, smoking, hypertension and diabetes mellitus [odds ratio=1.737 （95% confidence interval, 1.337-2.257）, P=0.018]. CONCLUSIONS： MMP-9-1562C〉T polymorphism is associated with the susceptibility to ACS in the Uygur population of China. However, this mutation apparently is not related to the severity of coronary arterial stenosis. Another SNP （R279Q） polymorphism of MMP-9 is not significantly associated with the risk of ACS.展开更多
Idiopathic dilated cardiomyopathy ( IDC) is characterized by dilation andimpaired contraction of the left ventricle or both, and it is a relevant cause of heart failure anda common indication for heart transplantation...Idiopathic dilated cardiomyopathy ( IDC) is characterized by dilation andimpaired contraction of the left ventricle or both, and it is a relevant cause of heart failure anda common indication for heart transplantation. The major pathogenetic hypothesis in IDC involvesautoimmune mediated damage to myocytes. The development of autoimmune inflammatory damage occursonly in patients with a predisposing genetic background. Changes in the immune system concerningcell-mediated and humoral immunity have been detected. The immune system is strictly related tohuman leukocyte antigen (HLA), which is located on the surface of antigen presenting cells. Itsprimary function is to restrict T-cell receptors in the process of recognizing auto- or exteriorantigen, and thus participates in or mediates immunological recognition, immunological response andimmune regulation at various levels. HLA is a genetic marker of susceptibility to autoimmunemyocardial damage. In the present study, the HLA-DQA1 and -DQB1 alleles in IDC patients weredetected with the techniques of polymerase chain reaction-sequence specific primers ( PCR-SSP) toexplore the immunogenetic mechanisms involved in the pathogenesis of IDC.展开更多
基金Supported by the National Science of Foundation of Jiangsu Province(BK 2001162)
文摘Objective: To investigate the association of Glu298Asp polymorphism of theeNOS gene with essential hypertension in elderly people. Methods: Ninety-five cases of essentialhypertension were randomly chosen from outpatients and inpatients as the study group, and an equalnumber of sexes, age-matched healthy people as the control group. Their height, weight and bloodpressure were recorded and their fasting plasma lipid concentrations were measured. Glu298Asppolymorphism of the eNOS gene was measured using the methods of PCR and RFLP. Results: Theconstituent ratio of Genotype Glu/Asp in the study group (26.3%) was higher than that in the controlgroup (12.6%, x^2 = 5. 67, P<0.05), the allelic frequency of 298Asp in the study group (13.2%) wassignificantly higher than that in the control group (6.3%, x^2 = 5.06, P<0.05). Conclusion: Glu298Asp variant of the eNOS gene may be an independent predictor in essential hypertension.
基金Supported by National Natural Science Foundation of China,No. 30871148 and No. 81160052Natural Science Foundation of Xinjiang Uyghur Autonomous Region of China, No.2009211A26
文摘AIM:To investigate the contribution of fucosyltransferase 2 (FUT2) variants to the genetic susceptibility and clinical heterogeneity of ulcerative colitis (UC) between Han and Uyghur patients in Xinjiang, China. METHODS:A total of 102 UC patients (53 Han patients including 22 men and 31 women, and 49 Uyghur patients including 25 men and 24 women; aged 48 ± 16 years) and 310 age-and sex-matched healthy controls were enrolled from January 2010 to May 2011 in Xinjiang People's Hospital of China. UC was diagnosed based on the clinical, endoscopic and histological findings following Lennard-Jones criteria. Blood samples were collected and genomic DNA was extracted by the routine laboratory methods. Polymerase chain reaction-sequence-based typing method was used to identify FUT2 variants rs281377, rs1047781, rs601338 and rs602662. Genotypic and allelic frequencies were documented and compared between the UC patients and the healthy controls. Genotypic frequencies were also compared between Han and Uyghur patients. Potential association of genetic variation and UC between Han and Uyghur patients was examined. RESULTS: rs281377 was found significantly associated with UC in the Han population as compared with the controls (P = 0.011) while rs281377 was not associated with UC in the Uyghur population (P = 0.06). TT homozygous rs281377 frequencies were higher in the UC groups than in the controls (88.7% vs 68.7% and 55.1% vs 50.3%). rs1047781 was specifically associated with UC in the Uyghur population (P = 0.001), but not associated with UC in the Han population (P = 0.13). TT homozygous rs1047781 frequencies were lower in the UC groups than in the controls (9.5% vs 11.8% and 4.0% vs 6.7%). rs601338 was statistically related to UC in both populations (Han, P = 0.025; Uyghur, P = 8.33 × 10 -5 ). AA homozygous rs601338 frequencies were lower in the UC groups than in the controls (0% vs 1.8% and 12.2% vs 13.4%). No association was found between rs602662 and UC in both Han and the Uyghur populations. Allelic analysis showed that rs281377 allele was significantly associated with UC in the Han population as compared with the controls [P = 0.001, odd ratio (OR) = 0.26], however, it was not associated with UC in the Uyghur population (P = 0.603, OR = 1.14), and rs1047781 allele was associated with UC in the Uyghur population (P = 0.001, OR = 0.029) while it was not associated with UC in the Han population (P = 0.074, OR = 0.62). Moreover, rs601338 was associated with UC in both Han (P = 0.005, OR = 0.1) and Uyghur pop- ulations (P = 0.002, OR = 0.43). Meta analysis showed that rs1047781 and rs601338 conferred risk of UC as compared with the controls [P = 0.005, OR = 0.47; P = 0.0003, OR = 0.35; 95% confidence interval (CI) = 0.31-0.72 and 0.21-0.58], but rs281377 and rs602662 showed no statistically significant differences betweenpatients with UC and controls (P = 0.10, OR = 0.71; P = 0.68, OR = 0.09; 95% CI = 0.47-1.07 and 0.56-1.47). CONCLUSION:Functionally relevant FUT2 gene variants are associated with UC, suggesting that they play a potential role in the pathogenesis of UC and may contribute to the clinical heterogeneity of UC between Han and Uyghur patients.
文摘BACKGROUND：Matrix metalloproteinase-9 （MMP-9） plays a pivotal role in early atherosclerosis, vascular remodeling and development of atherosclerotic lesion. The potentially functional MMP-9 gene polymorphism may contribute to the susceptibility of acute coronary syndrome （ACS）. This study aimed to investigate the association between two single nucleotide polymorphisms （-1562C〉T, R279Q） of the MMP-9 gene in patients with ACS in the Uygur population of China. METHODS：This case-control study was composed of 361 ACS patients and 432 control subjects, who had undergone coronary angiography. Among the ACS patients, 162 （44.9%） had single-vessel disease, 145 （40.2%） had two-vessel disease, and 54 （14.9%） had three-vessel disease. The genotypes of the two selected SNPs were determined by the method of polymerase chain reaction and restriction fragment length polymorphism （RFLP-PCR）. The relationship between the polymorphism of the MMP-9 gene and the severity of coronary arterial stenosis was analyzed.RESULTS： Analysis of the two SNPs showed that the frequency of CT and TT genotypes in patients with ACS was significantly higher than that in the control group （ACS vs. controls; CT＋TT： 25.5% vs. 15.8%, P=0.001）. And the -1562 gene allele （C/T） was significantly associated with acute coronary syndrome （ACS vs. controls; C allele： 85.7% vs. 91.5%, T allele： 14.3% vs. 8.5%, P〈0.001）. But the frequencies of CT＋TT and CC genotypes were not statistically different among ACS patients with one, two and three or more significantly diseased vessels （P=0.55）. The R279Q polymorphism site with regard to the association with ACS was not significant （P〉0.05）. The presence of CT or TT genotypes, assuming codominant effect of the T allele, was independently associated with increased risk of coronary artery disease when adjustment was made for age, body mass index, smoking, hypertension and diabetes mellitus [odds ratio=1.737 （95% confidence interval, 1.337-2.257）, P=0.018]. CONCLUSIONS： MMP-9-1562C〉T polymorphism is associated with the susceptibility to ACS in the Uygur population of China. However, this mutation apparently is not related to the severity of coronary arterial stenosis. Another SNP （R279Q） polymorphism of MMP-9 is not significantly associated with the risk of ACS.
文摘Idiopathic dilated cardiomyopathy ( IDC) is characterized by dilation andimpaired contraction of the left ventricle or both, and it is a relevant cause of heart failure anda common indication for heart transplantation. The major pathogenetic hypothesis in IDC involvesautoimmune mediated damage to myocytes. The development of autoimmune inflammatory damage occursonly in patients with a predisposing genetic background. Changes in the immune system concerningcell-mediated and humoral immunity have been detected. The immune system is strictly related tohuman leukocyte antigen (HLA), which is located on the surface of antigen presenting cells. Itsprimary function is to restrict T-cell receptors in the process of recognizing auto- or exteriorantigen, and thus participates in or mediates immunological recognition, immunological response andimmune regulation at various levels. HLA is a genetic marker of susceptibility to autoimmunemyocardial damage. In the present study, the HLA-DQA1 and -DQB1 alleles in IDC patients weredetected with the techniques of polymerase chain reaction-sequence specific primers ( PCR-SSP) toexplore the immunogenetic mechanisms involved in the pathogenesis of IDC.
