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Objective:To observe the lipid-lowering effect of atorvastatin on patients with acute cerebral infarction with different ATP-binding cassette subfamily B member 1(ABCB1) genotypes, and thus to provide clinical research evidence for individual application of atorvastatin in patients with acute cerebral infarction.Methods:From March 2021 to December 2021, 131 patients with acute cerebral infarction admitted to the Department of Neurology of Xuchang Central Hospital were included. The ABCB1 G2677T gene polymorphism rs2032582 of patients was detected by fluorescence staining in situ hybridization.Based on the detection results, patients were divided into GG group, GT group and TT group.All patients were given atorvastatin (20 mg/d) for lipid-lowering treatment.The levels of low density lipoprotein cholesterol(HDL-C), high density lipoprotein cholesterol(HDL-C), total cholesterol(TC)and triglyceride(TG) in serum of patients in the three groups before and 2 months after treatment were recorded and analyzed.The adverse drug reactions in the three groups were recorded. When the serum LDL-C level was less than 1.8 mmol/L, it was considered that the lipid-lowering treatment was effective.The binary Logistic regression analysis was used to explore the influencing factors of atorvastatin lipid lowering therapy.The software of SPSS 25.0 was used for statistical analysis.Results:There were 50 (38.17%), 49 (37.40%) and 32 (24.43%) patients in GG group, GT group and TT group, respectively. The serum TC levels of patients in GG group, GT group and TT group after treatment were (3.47±0.70) mmol/L, (3.59±1.09) mmol/L and (3.48±1.02) mmol/L, respectively, which were lower than those before treatment ((4.27± 0.99) mmol/L, (4.02±0.98) mmol/L and (4.03±1.31) mmol/L), all of which were statistically significant ( t=7.652, 3.092, 5.593, all P<0.01). The serum LDL-C levels in GG group, GT group and TT group after treatment were (1.89±0.53) mmol/L, (2.07±0.92) mmol/L and (1.96±0.79) mmol/L, respectively, which were lower than those before treatment ((2.87±0.92) mmol/L, (2.56±0.89) mmol/L and (2.55±1.11) mmol/L) ( t=9.896, 4.055, 5.980, all P<0.001). The differences of serum LDL-C level before and after treatment in GG group, GT group and TT group were (-0.97±0.69) mmol/L, (-0.50±0.86) mmol/L and (-0.59±0.56) mmol/L, respectively. The difference of serum LDL-C level before and after treatment in the three groups was statistically significant ( F=5.614, P=0.005). The difference of TC, TG and HDL-C before and after treatment was not statistically significant( F=2.783, 0.490, 1.677, all P>0.05). The binary Logistic regression analysis showed that ABCB1 G2677T gene type and staying up late were independent influencing factors for atorvastatin lipid-lowering therapy. The probability of effective lipid-lowering in GT patients with ABCB1 G2677T gene was 27.9% of that in GG patients ( OR=0.279, 95% CI: 0.110-0.709, P=0.007), and the probability of TT type patients was 33.8% of GG type patients ( OR=0.338, 95% CI: 0.121-0.943, P=0.038). The probability of effective lipid-lowering in patients who had the habit of staying up late was 26.4% of the patients who did not stay up late ( OR=0.264, 95% CI: 0.118-0.591, P=0.001). There was no significant difference in the total incidence of adverse drug reactions among the three groups( χ2=0.868, P=0.648). Conclusion:The lipid-lowering effect in patients with GG type of ABCB1 G2677T is better than that of GT type and TT type when atorvastatin is used to treat patients with acute cerebral infarction.
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Objective:To investigate the association between recurrent spontaneous abortion (RSA) and methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphism in pregnant women of appropriate age, and to observe the difference of the serum concentration of patients with different MTHFR genotypes after taking different does of folic acid.Methods:A prospective case-control study was conducted, one handred and eleven pregnant women with a history of unexplained RSA and gestation less than 12 weeks who visited the Department of Obstetrics and Gynecology of Xuancheng People's Hospital of Anhui Province from January 2019 to June 2021 were enrolled into the RSA group, and 100 normal women of childbearing age in the same area with no history of abortion were included in the control group. After venous blood was extracted, the polymorphisms of MTHFR gene C677T, A1298C PAI-1 and the serum folic acid concentration were detected.The comparison between the measurement data groups with normal distribution adopts t-test, and the counting data adopts t-test χ 2 test, Logistic regression analysis was used for multivariate analysis. Results:The genotype and allele of MTHFR C677T (CC:21.62%(24/111) and 51.00%(51/100), TT: 28.83%(32/111) and 12%(12/100)) and allele (C: 46.40%(103/222) and 69.50% (139/200), T: 53.60%(119/222) and 30.50%(61/200)) and PAI-1 (5G5G: 22.52%(25/111) and 48.00%(48/100), 4G4G: 44.14%(49/111)and 16.00%(16/100); 5G: 39.19%(87/222) and 66.00%(132/200), 4G: 60.81%(135/222) and 34.00%(68/200)) were significantly different (χ 2 values were 21.82, 22.96 and 23.51, 30.30; all P <0.001) between the RSA group and control group. Logistic analysis showed that MTHFR C677T ( OR=0.477, 95% CI 0.303-0.750) and PAI-1 genotype ( OR=0.451, 95% CI 0.306-0.665) were closely related to recurrent abortion ( P=0.001 and P<0.001). There were no significant differences in genotype and allele of MTHFR A1298C between the two groups ( P values were 0.270 and 0.149).There was no significant difference in serum concentration of folic acid between the two groups ( P=0.355 for 0.4 mg folic acid and P=0.786 for 0.8 mg or more folic acid) at the same dose of folic acid. Conclusion:The occurrence of recurrent spontaneous abortion in women of childbearing age may be related to MTHFR C677T and PAI-1 site mutation, and may not be related to MTHFR A1298C site mutation.
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The present study reported the mutation C189G in the T gene (Brachyury gene) as the cause of malformation in the tail of the Labrador dog. One litter of Labradors, from a mating between a female with short tail and a male with normal tail admitted at the Veterinary Teaching Hospital of Universidade Federal de Mato Grosso do Sul, Campo Grande, Brazil, was evaluated in this study. Blood samples were collected from the female and her puppies. After DNA extraction, sequencing and PCR-RFLP were carried out. The C189G mutation was identified through both techniques only in dogs with short tail.(AU)
No presente trabalho relata-se a mutação C189G no gene T (Brachyury gene) como causa da malformação da cauda em cães da raça Labrador. Uma ninhada de labradores, provenientes do acasalamento entre uma fêmea com a cauda curta e um macho com a cauda normal, encaminhados ao Hospital Veterinário da Universidade Federal de Mato Grosso do Sul, Campo Grande, Brasil, foi avaliada nesse estudo. Amostras de sangue da cadela e filhotes foram coletadas. Após extração de DNA, sequenciamento e PCR-RFLP foram realizados. A mutação C189G foi identificada por meio de ambas as técnicas apenas nos cães com a cauda malformada.(AU)
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Animals , Dogs , Tail/abnormalities , Dogs/abnormalities , Genotyping Techniques/veterinaryABSTRACT
OBJECTIVE:To systematically evaluate the relationship of multi-drug resistance gene MDR1 C3435T gene polymor-phism with therapeutic efficacy of proton pump inhibitors (PPIs)-based triple therapy for Helicobacter pylori eradication. METH-ODS:Retrieved from PubMed,EMBbase,CBM,CJFD,Wanfang database and VIP,clinical studies about MDR1 C3435T gene polymorphism and PPIs-based triple therapy for the eradication of H. pylori infection were collected. Meta-analysis was performed by using Rev Man 5.3 statistical software after data extraction and quality evaluation by using STREGA statement. RESULTS:A to-tal of 7 studies were included,involving 1019 patients. The results of MDR1 C3435T genotyping in patients were classified as wild homozygote genotype(CC),mutant heterozygous genotype(CT)and mutant homozygote genotype(TT). The results of Me-ta-analysis showed that there was no statistical significance in the eradication rate of H. pylori among CC,CT and TT groups of MDR1 C3435T gene polymorphism [CC vs. CT:OR=0.99,95%CI(0.69,1.42) ,P=0.95;CC vs.TT:OR=1.44,95%CI(0.66, 3.15),P=0.36;CT vs.TT:OR=1.54,95%CI(0.86,2.73),P=0.14]. Subgroup analysis showed the eradication rate of H. pylori in CT genotype group was higher than that in TT genotype group among Asian population [OR=2.35,95%CI(1.53,3.62),P<0.001]. CONCLUSIONS:MDR1 C3435T gene polymorphism basically do not affect therapeutic efficacy of PPIs-based triple thera-py for H. pylori eradication. For Asian population,gene detection is useful for the treatment.
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Objective:To investigate the association of single nucleotide polymorphism in mdr1C3435T with susceptibility to ovarian cancer.Methods:mdr1C3435T gene was determined by PCR-RFLP method in 135 ovarian cancer patients(cases group) and 146 healthy women(control group).Results:The frequency of C/C genotype in cases group(30.37%) was significantly lower than that in controls(47.95%),and the frequencies of T/C(44.44%)and T/T(25.19%) respectively in cases group were significantly higher than those in controls(T/C38.35%,T/T13.7%).The frequency of mdr1C3435T null genotype in cases group(25.19%) was higher than that in control group(13.7%).Compared with controls,the susceptibility of ovarian cancer with the T/T genotype was increased by 2.121-fold.There was significant difference in frequency of mdr1C3435T null and nonnull genotype between cases and controls of average age(P
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0.05).Conclusion On clinical,MMP-9 C-1562T genotype of IgA nephropathy patients may impact on the degree of urinary protein,but not other clinical manifestations,and prognosis of IgA nephropathy.