Association of CYP2C19 and CYP3A5 gene polymorphisms with myocardial infarction / 中华医学遗传学杂志

OBJECTIVE@#To assess the association of CYP2C19 and CYP3A5 gene polymorphisms with the risk of myocardial infarction.@*METHODS@#Five hundred patients with myocardial infarction and 500 healthy controls were randomly selected. Fluorescent PCR and Sanger sequencing were used to detect the CYP2C19 and CYP3A5 gene polymorphisms. Logistic regression was used to analyze the correlation between the polymorphisms and myocardial infarction. Quanto software was used to evaluate the statistical power.@*RESULTS@#The two groups had significant difference in the frequency of AG, GG genotypes and A allele of the CYP2C19 gene rs4986893 locus and the AA, AG, GG genotypes and G allele of the CYP3A5 gene rs776746 locus ( P<0.05), but not in the frequency of genotypes and alleles of CYP2C19 gene rs4244285 and rs12248560 loci, and the AA genotype of the rs4986893 locus. After correction for age, gender, and body mass index, Logistic regression indicated that the AG genotype and A allele of the CYP2C19 gene rs4986893 locus, and the GG genotype and G allele of CYP3A5 gene rs776746 locus are associated with susceptibility of myocardial infarction, while rs4986893 GG genotype and AA and AG genotypes of rs776746 may confer a protective effect. Based on the sample size and allele frequency, analysis with Quanto software suggested that the result of this study has a statistical power of 99%.@*CONCLUSION@#CYP2C19 and CYP3A5 gene polymorphisms may increase the risk for myocardial infarction.

MRI features of the parotid gland in Sj?gren syndrome / 中华放射学杂志

Objective To investigate MR imaging features of parotid gland in Sj?gren′s syndrome ( SS).Methods Twenty-seven cases of xerostomia patients were collected and divided into SS group ( n=21) and non-SS group (n=6) according to the international classification (diagnosis) criteria for SS.Ten healthy volunteers were recruited as the control group.All the subjects underwent conventional MRI of parotid gland and MR sialography ( MRS).Standard deviation of T 1 WI and T2 WI signal intensity among 3 groups was observed, meanwhile, grading was made according to parotid glands , fat signal and parotid duct expansion degree respectively.With clinical diagnosis as the gold standard , diagnostic value of conventional MRI , MRS and their combination used in SS was compared.One-way ANOVA was used in comparison of standard deviation of parotid gland′s signal intensity among 3 groups , and Chi-square test was applied in comparison of conventional MRI and MRS diagnostic value.Moreover , Kappa value was calculated to assess the consistency of two grading results in SS.Results Signal intensity of parotid glands in control group and non-SS group was homogeneous.However , bilaterally diffused and heterogeneous high signal intensity on both T1WI and T2WI was found in SS patients, which was depressed on T2WI fat suppression sequences.Forty-two parotid glands were graded by fat signal:Grade 0 (n=2 glands), Grade 1 (n=10), Grade 2 (n=10), Grade 3 (n=6) and Grade 4 (n=14).Parotid peripheral ducts of control group and non-SS group were unexpanded , while bilaterally expanded parotid peripheral ducts were shown in SS patients.The grading of 42 parotid glands by expansion degree of parotid duct , Grade 0 was rated in 12, Grade 1 in 8, Grade 2 in 10, Grade 3 in 5, and Grade 4 in 7.Standard deviation of T1WI signal intensity of parotid glands among SS group , non-SS group and control group were 124.1 ±30.0, 81.8 ±27.6, and 86.3 ±35.0 respectively;and standard deviation of T 2 WI signal intensity were 115.1 ±35.2, 69.8 ±23.5, and 80.1 ±31.4 respectively; the standard deviation of T 1 WI and T2 WI signal intensity of SS group was higher than both non-SS group and control group′s ( F value =13.780 and 13.301, respectively, P 0.05).Among 42 parotid glands with SS, conventional MRI and MRS showed parotid gland lesions in 40 and 30 respectively , and the difference was statistically significant (χ2 =13.04, P=0.013).There was no false positive result.The combination of the two methods detected all 42 lesions.The consistency of detecting parotid abnormalities with SS between conventional MRI and MRS was poor (Kappa=0.12, P=0.092).Conclusions Diffuse fatty infiltration on conventional MRI and diffuse peripheral duct dilatation on MRS in the parotid gland are characteristic features of SS , and conventional MRI could be used as the preferred technique for the SS.combination with MRS may improve diagnostic accuracy.