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Objective:To investigate the relationship between the E2 and E4 alleles of apolipoprotein E (apoE) gene and myocardial infarction (MI) in type 2 diabetes Mellitus (T2DM) patients, and to explore the relationship between apoE polymorphism and blood lipid metabolism.Methods:This case control study was conducted from August 2016 to March 2020 in China-Japan Friendship Hospital, 3 459 inpatients with T2DM were included including 3 044 patients without MI (T2DM group) and 415 patients with MI (T2DM+MI group). Real time fluorescent quantitative PCR was used to detect apoE polymorphism. Automatic biochemical analyzer was used to detect lipid levels. Logistic regression analyses were performed to determine the association of apoE with risk of MI in patients with T2DM.Results:(1) The frequency of E4 allele in T2DM+MI group (12.29%, 102/830) was significantly higher than in T2DM group (9.13%,556/6 088), while the frequency of E2 allele in T2DM+MI group (7.35%,61/830) was significantly lower than that in T2DM group (8.21%,500/6 088), P=0.012. Logistic regression analyses showed that E4 allele carrier (E3/E4+E4/E4) faced a higher risk for MI in T2DM patients ( OR=1.48, 95% CI 1.14-1.92, P=0.003), while E2 allele carrier(E2/E3+E2/E2)did not face a higher risk of MI in T2DM patients ( OR=0.88, P=0.642). (2) The levels of apoE polymorphism and blood lipid: The levels of TC, LDL-C and apoB increased in the order of E4 allele, wild type and E2 allele ( P<0.05). The levels of HDL-C, apoA1 and apoE decreased in the order of E4 allele, Wild type and E2 allele ( P<0.05). Conclusion:The E4 allele is a risk factor for MI in T2DM patients, and apoE polymorphism can affect blood lipid level in this patent cohort.
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Objective To explore the interaction of angiotensin converting enzyme (ACE) insertion/deletion(I/D) polymorphism(rs1799752)with diabetic kidney disease (DKD) development as well as its interaction with smoking and obesity in Chinese type 2 diabetic mellitus (T2DM) using the improved experiment method. Methods From June 2016 to March 2018, 300 T2DM patients with DKD [DKD(+)] and 300 T2DM patients without DKD[DKD(-)] were selected from China-Japan Friendship Hospital. The improved Triple Primer Method that combined PCR with capillary electrophoresis was established in this study to detect the ACE genotype. The relevant clinical data as well as the frequencies of genotype and allele of ACE gene I/D polymorphism between two groups were statistically analyzed. Patients were further grouped based on smoking status and obesity for multivariate regression. Results Frequency of the DD genotype and D allele were significantly higher in DKD(+) group than in DKD(-) group [DD genotype:15.0％ (45 cases) vs 7.3％(22 cases),χ2=10.8, P=0.004;D allele:36.5％(219 cases) vs 28.0％(168 cases),χ2=9.92, P=0.02]. Multivariate logistic regression analysis found that D allele of rs1799752 was associated with a significantly higher risk of DKD in both recessive model(OR=1.45, 95％CI:1.06-2.00, P=0.022 after adjustments) and additive model(OR=1.41, 95％CI:1.04-1.90, P=0.025 after adjustments). In the smoker group and the obese group, D allele showed significant relationship with DKD incidence (P<0.05 after adjustments) in both recessive model and dominant model. No such relationships were observed in non-smoker group and non-obese group (P>0.05). Conclusions I/D polymorphism of ACE gene is associated with the incidence of DKD in T2DM patients. DD genotype of the ACE gene is the risk factor for T2DM patients with DKD. D allele may increase DKD incidence in the presence of smoking and obesity.
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Diabetic nephropathy ( DN) is one of the most serious chronic complications of diabetes and it is the main reason leading to end-stage renal disease.Epidemiological studies have shown that genetic susceptibility is one of the important factors in the development of DN . Regions coded by exon 4 of apolipoprotein E ( ApoE ) gene involved in lipid metabolism , which is considered to be a candidate susceptible gene for diabetic nephropathy .Articles on the relationship of APOE and diabetic nephropathy including case-control study , prospective follow-up study and meta-analysis are reviewed , and the conclusion suggests that APOE E2 allele may be one of the genetic risk factors for DN , and APOE E4 allele may be a protective factor.APOE may play its role in the development of DN through the participation in the lipid metabolism, regulation of cell growth factor activity in extracellular matrix and regulating gene expression in kidney protection and other aspects .However, the detailed mechanism of APOE polymorphism in diabetic nephropathy is unclear and needs further research .
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Objective To study the correlation between serum homocysteine ( Hcy ) level and C677T polymorphism of methylenetetrahydrofolate reductase ( MTHFR ) gene C677T polymorphism ( rs1801133) in patients with cerebral infarction, and feature of rs1801133 polymorphism and serum Hcy level in cerebral infarction patients with or without diabetes mellitus.Methods Case-control study.Five hundred and fifty six patients with cerebral infarction admitted to China-Japan Friendship Hospital from January 2014 to January 2015 were included as the case group while 275 subjects from medical examination center without cerebral infarction and diabetes mellitus matched with the case group.MTHFR C677T polymorphism was determined by pyrosequencing and serum Hcy was determined by circulating enzymatic.Chi-square test was used to analyze the distribution of genotype in different group; ANVOA was used to analyze the Hcy level with different genotype in patients with cerebral infarction, and LSD-t was used to pairwise comparison.Results Among the 556 patients with cerebral infarction ,TT genotype were 202 cases (36.33%), CT genotype were 257 cases(46.22%), CC genotype were 97 cases(17.45%).The T allele 44%, higher than the control group T allele frequencies 46.91%(χ2 =23.385,P0.05), while the level of serum Hcy in Cerebral infarction patients with diabetes mellitus ( 18.16 ±12.90 )μmol/L is lower than Cerebral infarction patients without diabetes mellitus(23.47 ±19.53) μmol/L in TT genotype( F=4.652, P<0.05).Conclusions MTHFR TT genotype was related to serum hyperhomocysteine, and maybe save as the risk of cerebral infarction.The Hcy level in TT genotype cerebral infarction patients with DM is lower than the same genotype patients without DM.(Chin J Lab Med, 2016, 39:205-209 )
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Objective To detect the related genes with rifampin and isoniazid in Mycobacterium tuberculosis in sputums using the DNA chip technique and evaluate the fensibility of the clinical application of the DNA chip technique.Methods 586 sputum smear specimen was detected using the L-J cultivation to determine their drug resistance.Simultaneously.DNA chip was employed to detect the mutation of the frequent mutable points rpoB,katG/inhA in mycobaeterium tuberculosis isolates.These two assays were compared and samples showing discrepancy were chosen for additional sequencing to evaluate the accuracy of the detection.Results(1)There were 584 culture positive sputum smear specimens including 3(+)163 specimens,2(+)204 specimens,and 1(+)217 specimens.The drug fast results displayed that 361 strains were sensitive to INH,223 strains tolerated INH in which 93 strains tolerated it in low concentration while sensitive to it in high concentration.and 130 strains tolerated it in both low and high concentration.While 327 strains were sensitive to RFP.247 strains tolerated RFP in which 59 strains tolemted it in low concentration while sensitive to it in high concentration,and 188 strains tolerated it in both low and high concentration.(2)There were 367 positive strains(62.8%)and 217 negative strains(37.2%)identified by PCR amplification of the specific resistance gene fragments.The detection rate of the katG/inhA was 28.4%,and the mutation sites were mainly focused on the katG315(89.8%).The detection rate of the rpoB was 55.9%(137/247),and the mutation sites were mainly focused on rpoB531(68.6%)and rpoB 526(16.1%).(3)The sequencing of sample,which showed discrepancy with L-J cultivation and the DNA chip confirm a certain omission ratio.Conclusions It is feasible to detect the related resistant genes in Mycobacterium tuberculosis isolates using the DNA chip technique.The key factor is to raise the efficiency of the DNA extraction,the effciency of the PCR and the quality control of the experiment to facilitate its clinical application.
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Objective To reduce the misdiagnosis of the inpatients admitted to digest department with abdominal pain through analyzing the consultation undertaken by surgeon.Method The causes and the constituent ratio according to the case records of those inpatients admitted to digest department because of abdominal pain were analyzed.Results The obstruction of hollow viscus was the first cauge(51.07%),and the tumor of digestive tract(17.78%)was the second cause for invitation for consultation to surgeon of the inpatients with abdominal pain in digest department wards.The ultrasound 32.78%,CT 26.67% and gastroenterological endoscope 13.89% were definite diagnosis,and should shorten the time of consultation.Conclusion Whether inpatient or outpatient with abdominal pain should be planned to be examined by ultrasound,CT or gastroenterological endoscope,obgerve the changes of the symptom and sign so that the misdiagnosis can be avoided.