1.Association of CYP2C19 and CYP3A5 gene polymorphisms with myocardial infarction.
Lin QI ; Wei LIANG ; Hui QIAO ; Ruimin WANG ; Jingxian HAN ; Xiaofei XING ; Yuwei HU
Chinese Journal of Medical Genetics 2021;38(1):87-91
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.
Cytochrome P-450 CYP2C19/genetics*
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Cytochrome P-450 CYP3A/genetics*
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Gene Frequency
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Genotype
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Humans
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Myocardial Infarction/genetics*
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Polymorphism, Genetic
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Polymorphism, Single Nucleotide
2. Identification and application of pig model with bilateral external ear defects accompanied by aural atresia
Bo PAN ; Ruimin QIAO ; Meirong YANG ; Changchen WANG ; Ye ZHANG ; Chuan LI ; Haiyue JIANG
Chinese Journal of Plastic Surgery 2018;34(3):232-236
Objective:
To identify a pig model with bilateral external ear defects accompanied by aural atresia and investigate its application in plastic surgery.
Methods:
Erhualian×Shaziling F2 pig inbreeding population was introduced, and examination of external ear morphology was conducted in all individuals. Temporal computed tomography scanning and mutational detection of HOXA1 gene were conducted in one affected and one normal individuals.
Results:
In Erhualian×Shaziling F2 pig inbreeding population, there were 57 normal and 18 affected individuals among the 75 pigs. Affected subjects presented bilateral external ear defects accompanied by aural atresia; temporal computed tomography scanning showed bilateral aural atresia and dysplasiaof middle ear; and gene detection identified homozygous mutation of HOXA1 gene.
Conclusions
Pig model with HOXA1 gene homozygous mutation resembles human microtia at different levels. Our findings provide the theoretical basis for its application to study further pathological mechanism for human microtia.
3.Current trends in research on pulmonary fibrosis and metabolites: A bibliometric analysis
Ruimin MA ; Yali FAN ; Qiao YE
Journal of Environmental and Occupational Medicine 2022;39(4):434-438
Background Certain metabolites are closely related to the occurrence and development of pulmonary fibrosis, and the related mechanism has not been fully elucidated. It is necessary to explore the trends of various metabolites and causes of pulmonary fibrosis. Objective To discuss the trends of publication and research hotspots of pulmonary fibrosis-related metabolites by bibliometrics. Methods With "pulmonary fibrosis" and "metabolites" in both Chinese and English as primary keywords, literature search was conducted through public online databases: PubMed, Web of Science, SinoMed, and CNKI. NoteExpress 3.0 and Excel 2019 were used to store and organize the collected literature. Analyses included publication year, number of papers, institution, country/region, and journal title. VOSviewer 1.6.10 was used for visual analysis. Keyword co-occurrence was analyzed by setting the minimum threshold for the occurrence of keywords to 5 times. Results The research on pulmonary fibrosis and associated metabolites in foreign language was earlier than that in Chinese language. Since the 1990s, the number of literature showed an increasing trend in both foreign and Chinese language literature. A total of 1 062 articles were published in foreign languages, of which 864 articles contained the authors’ address information. The authors in the United States published 340 articles, followed by China with 196 articles, and then Japan, Germany, and Italy. There were 728 relevant pieces of literature published in Chinese, 709 of which included the authors’ institution information and 350 institutions were involved. North China University of Science and Technology, Shanxi Medical University, Peking University, Zhengzhou University, China Medical University,and Soochow University were the top 6 by number of publication. A total of 255 Chinese journals published 728 Chinese articles, and among them 242 articles (33.24%) were published by 12 journals having published more than ten articles per journal. A total of 1062 articles were published in 609 foreign language journals, and among them 179 articles (16.85%) were published by 8 journals with more than 15 articles published by each journal. The results of keywords co-occurrence analysis suggested that pulmonary fibrosis in association with glucose metabolism, lipid metabolism, amino acid metabolism, nucleotide metabolism, and biological oxidation were the common themes studied at home and abroad. Conclusion The number of publications on pulmonary fibrosis and metabolites has been on the rise in recent years, and the research hotspots include glucose metabolism, lipid metabolism, amino acid metabolism, nucleotide metabolism, and biological oxidation.