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Objective To investigate the relationship between polymorphism of resistin(RETN)gene and metabolic associated fatty liver disease(MAFLD)in type 2 diabetes mellitus(T2DM)patients in middle and high altitude areas.Methods A total of 400 patients with T2DM in Qinghai area were recruited and divided into simple T2DM group(T2DM,n=200)and T2DM combined with MAFLD group(T2DM+ MAFLD,n=200)according to liver ultrasonography.Healthy individuals confirmed by physical examination were selected as the normal control group(NC,n=180).Plasma resistin levels were measured by ELISA.The polymorphism of RETN-420C/G and +299G/A genes were detected by PCR sequencing.Results By comparing the polymorphism of RETN-420C/G gene in each group,it was found that the frequencies of G/G genotype and G allele frequency in T2DM+MAFLD group were higher than those in NC group and T2DM group(P<0.05),while the frequencies of C/C genotype and C allele frequency were lower than those in NC group and T2DM group(P<0.05).The risk of MAFLD increased by 1.571,2.126 and 1.537 times respectively in T2DM patients with C/G,G/G genotype and G allele.Logistic regression analysis showed that G/G genotype was a risk factor for MAFLD in T2DM patients.By comparing the polymorphism of RETN+299G/A gene in each group,it was found that A allele frequency in T2DM+MAFLD group was higher than that in NC group and T2DM group,while G allele frequency was lower than that in NC group and T2DM group(P<0.05).The allele A increased the risk of MAFLD in T2DM patients by 1.432 times compared to allele G.Conclusion RETN gene-420C/G locus G/G genotype increases the risk of T2DM combined with MAFLD in middle and high altitudeareas.
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Objective To determine the association between weight gain induced by atypical antipsychotic and the polymorphisms of MC4R gene rs12970134.Methods 62 patients who had weight gain more than 7% of their pre -drug body weight were selected as study group,and 62 patients who had weight gain less than 7% of their pre -drug body weight were selected as control group.The polymorphism of MC4R gene rs12970134 was analyzed by using polymerase chain reaction and directly sequencing technology.Results There were no significant differences in the frequency of MC4R gene rs12970134 genotypes and alleles between the two groups(χ2 =0.648,P =0.723;χ2 =0.679,P =0.410).While after the treatment with atypical antipsychotic,the weight gain degree in patients with GG genotypes was less than patients with GA /AA genotypes[(22.18 ±0.33)kg/m2 vs.(23.53 ±0.58)kg/m2 ](t =-2.167,P =0.032).Conclusion The polymorphisms of MC4R gene rs12970134 maybe affect the weight gain degree in patients after treatment with antipsychotic.
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Objective To investigate the relationship between CYP2J2*7 mutation(G-76T) and coronary heart disease (CHD) in Chinese Hanpopulation and to study the effects of CYP2J2 geneover-expressionon the proliferation and migrationof aortic smooth muscle cells of ApoE-/- mice. Methods CYP2J2*7 genotype was detectedin 500 patients with CHD and 478 controlsubjects by the Polymerase Chain Reaction-Restriction Frag-ment Length Polymorphism (PCR-RFLP). Culturedaortic smooth muscle cells of ApoE-/- mice were divided into control group, sham transfectiongroup and CYP2J2 over-expression group. Cell proliferation and migration were investigated after CYP2J2 over-expressionby MTS and Transwell assay. Results The frequency of CYP2J2*7 in CHD group was significantly higher than that incontrol group (10.00% vs. 6.49%, P = 0.046). Same is the case in female cases(P = 0.026). Compared with these of aortic smooth muscle cells incontrol group and sham trans-fectiongroup, the cell proliferation in 24, 48, 72 h, and the cell migration in 48 h after CYP2J2 over-expression in CYP2J2 group were significantly suppressed. Conclusions CYP2J2*7 mutation might increase the risk of CHD in Chinese Han population. CYP2J2 over-expression can suppress the proliferation and migration of aortic smooth muscle cells and CYP2J2 might have the effect of anti-atherosclerosis.
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Objective:To explore the association between interleukin(IL)-28B single nucleotide polymorphisms and natural outcome of hepatitis C virus.Methods:The IL-28B rs12979860 locus was genotyped in 266 HCV infected volunteer blood donors(107 spontaneous cleared and 159 chronic infection) and 97 healthy controls using Sanger sequencing assay.The difference in rs12979860 genotypes and allele frequencies between the six groups(107 spontaneous cleared and 159 chronic infection,266 HCV infection and 97 healthy controls,159 chronic infection and 97 healthy controls) were analyzed by statistics.Results:159 HCV chronic infection,107 spontaneous cleared and 97 healthy controls,were shown more CC genotype,accounting for 83.6%,95.3%and 86.6%,respectively, while the CT genotype accounted for 16.4%,4.7%and 13.4%respectively.No TT genotype was found.The CC/CT genotype was not significant difference between HCV infection and healthy controls,chronic infection and healthy controls(χ2=0.204,P=0.652;χ2=0.406,P=0.524),but between chronic infections and spontaneous clearance had statistically significant(χ2=8.474,P=0.004),the frequence of C allele in spontaneous cleared was higher than HCV chronic infection(χ2=7.949,P=0.005).Conclusion: The gene polymorphism of IL-28B rs12979860 is not related to HCV susceptibility,but there are differences in chronic infection and spontaneous cleared,showing the C allelic in favor of HCV spontaneous cleaed.
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Objective To study the relationship among the angiotensinogen (AGT)gene T174M,M235T polymorphisma,blood glucose level and atherosclerotic cerebral infarction.Methods The polymerase chain reaction-restriction fragment length polymor-phism (PCR-RFLP)method was adopted to detecte the gene polymorphisms of AGT gene 174,235 sites and the fully automatic bi-ochemical analyzer was used to detect the biochemical indexes of GLU,etc.in 396 patients with atherosclerotic cerebral infarction and 360 normal controls.Results The GLU level in the patients of the ACI group carrying genotype TT and TM at AGT gene T174M site was higher than that in the normal control group with statistical differences(P 0.05);the glucose level in the patients carrying genotypes MM,MT and TT at M235T site in the ACI group was higher than that in the normal group,and the difference was statistically significant(P0.05 ).Conclusion No correlation is found among AGT gene T174M,M235T polymorphism,blood glucose level and atherosclerotic cerebral infarction;hyperglycemia is one of the risk factors of atherosclerotic cerebral infarction occurrence.
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Thyroid-associated ophthalmopathy (TAO) is an autoimmune disease,and the pathogenesis of TAO is still unclear at present,so it is difficult to take proper prevention and treatment.TAO is a polygenic disease,it is a result of both genetic and environmental factors.Now a large number of researchers showed genetic predisposition of TAO,such as associated genes about cytokine (CK),human leukocyte antigen DR gene (HLA-DR),uridine diphosphate glucose phosphate dehydrogenase gene (UGDH),parathyroid hormone-like hormone gene (PTHLH),human beta defensin-2 gene (HBD-2),cytotoxic T lymphocyte associated antigen-4 gene (CTLA4),cluster of defferentiation 86 gene (CD86) and CD103 gene,cardiac calsequestrin-2 gene (CASQ-2),Toll-like receptor-9 gene (TLR-9),peroxisome proliferation factor receptorγ activation gene (PPAR-γ2),hyaluronan synthase gene (HAS),hyaluronidase gene (HYAL),etc.This review summarizes the corresponding associations respectively based on specific genetic research,so as to have a system understanding to TAO susceptibility genes.
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Cyclophosphamide is a widely used drug in clinic,which is a non-specific cell cycle nitrogen mustard cytotoxic drug.It is mainly used in the chemotherapy of malignant tumors and autoimmune diseases.Recent studies have found that its differences of metabolism in vivo are connected with the differences of individual genetic level.Some drugs can enhance the anti-tumor effect of cyclophosphamide.There age some progress in the treatment of acute leukemia and lymphadenoma in children.
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Objective To explore the relationship between NF-kB1-94ins/delATTG gene polymorphism and acute progressive cerebral infarction(APCD ofChinese Hart population in Qingdaodistrict Methods We detected the polymorphism of NF-κB1 -94ins/delA TTG gene in 100 patients with acute cerebral infarction (ACI group) and 99 patients with acute progressive cerebral infarction (APCI group) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)analysis. The changes of expression of NF-κBp65 in PBMC cellular nucleus in the 2 groups were detected by cell immunohistochemistry. Results The frequency of TT genetype and T allele in the APCI group was significantly higher than that in the ACI group (P<0.05). Analysis on the relative risk of allele frequency showed that patients with T allele had 1.622 times of risk in having APCI than patients with C allele; logistic regressive analysis indicated that NF-κB1 TT genotype was independently related to the attacking of APCI (OR=2.14, 95% CI: 2.654-8.296, P<0.05). The expressions of NF-κBp65 of PBMC cellular nucleus of TT genotypic individuals in APCI group were significantly higher than those in ACI group (P<0.05); logistic regressive analysis indicated that the expressions of NF-KBp65 in PBMC cellular nucleus of TT genotypic individuals were independently related to the attacking of APCI (OR=1.96; 95% CI: 2.267-7.691; P<0.05). Conclusion The NF-κB1 gene polymorphism might participate in the onset of APCI and T allele of NF-κB1 gene might be a genetic risk factor of getting APCI for Chinese Han populations in Qingdao district. The NF-κB1 T allele carrier might increase the happening of APCI through up regulating the expression of NF-kB1.
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Objective To investigate the association of serum angiotensin converting enzyme(ACE)activity and ACE gene polymorphism with vascular dementia(VD)and Alzheimer's disease(AD).Methods Using the polymerase chain reaction(PCR),ACE gene polymorphism was analyzed in 62 patients with VD,39 patients with AD and 50 healthy controls.The ACE activity in 56 patients with VD,33 patients with AD and 46 healthy controls was measured by means of capillary electrophoresis ultraviolet detection.Results The ACE activity showed no significant difference between VD,AD and healthy controls.We did not find any association of ACE gene polymorphism in patients with VD.The frequency of I allele was significantly higher in AD group than that in the controls(P
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BACKGROUND: Angiotensin converting enzyme (ACE) is heavily expressed in the lung and plays a role in the metabolism of angiotensin II, bradykinin and substance P. Nitric oxides, including those produced by endothelial nitric oxide synthase (ecNOS), may regulate vascular and airway tone in the lung and influence various aspects of airway homeostasis. They are potentially involved in the pathogenesis of asthma, but the role of ACE and ecNOS gene in bronchial asthma is not completely understood. OBJECTIVE: To examine the possible involvement of ACE and ecNOS genes in the genetic basis for bronchial asthma, we investigated the association between genetic polymorphism and bronchial asthma, and its severity. METHOD: We determined the ACE and ecNOS genotypes by the polymerase chain reaction in 160 patients with bronchial asthma and 121 healthy subjects. Severity of asthma was classified by the guideline of NHLBI/WHO workshop. RESULTS: The frequency of the ID genotypes of ACE and bb genotype of ecNOS was highest in both groups, respectively. The distribution of ACE genotypes did not differ between the two groups (p=0.27). There was a higher frequency of the bb genotype of ecNOS in the asthma group than in the control population (p=0.004). In asthmatic patients, there were no differences in the distribution of ACE and ecNOS genotypes in different severity groups (p= 0.17, 0.06). CONCLUSION: These results suggest that the polymorphism of the ecNOS gene, not ACE gene, may be associated with development of asthma. But, the severity of asthma may not be influenced by polymorphisms of the ecNOS and ACE genes.