1.Advances in the research of genome-wide association studies on healthy adult height and missing heritability
Huiyong JIAO ; Wenting ZHAO ; Caixia LI ; Yanmei HUANG ; Jian YE
Chinese Journal of Forensic Medicine 2017;32(1):36-39
Human height, a complex trait with over 80% heritability, is determined by genetic and environment factors. Currently, a certain amount of specific variants about human height have been found, especially with the widely used of genome-wide association studies (GWAS) in genetics research, making it a great progress for the discovering of height associated genes. However, single nucleotide polymorphisms (SNPs) found by GWAS can only explain a minority of the heritable. This article reviews the progress of GWAS about height associated genes and missing heritability domestic and overseas.
2.BRD4 interacts with PML/RARα in acute promyelocytic leukemia.
Qun LUO ; Wanglong DENG ; Haiwei WANG ; Huiyong FAN ; Ji ZHANG
Frontiers of Medicine 2018;12(6):726-734
Bromodomain-containing 4 (BRD4) has been considered as an important requirement for disease maintenance and an attractive therapeutic target for cancer therapy. This protein can be targeted by JQ1, a selective small-molecule inhibitor. However, few studies have investigated whether BRD4 influenced acute promyelocytic leukemia (APL), and whether BRD4 had interaction with promyelocytic leukemia-retinoic acid receptor α (PML/RARα) fusion protein to some extent. Results from cell viability assay, cell cycle analysis, and Annexin-V/PI analysis indicated that JQ1 inhibited the growth of NB4 cells, an APL-derived cell line, and induced NB4 cell cycle arrest at G1 and apoptosis. Then, we used co-immunoprecipitation (co-IP) assay and immunoblot to demonstrate the endogenous interaction of BRD4 and PML/RARα in NB4 cells. Moreover, downregulation of PML/RARα at the mRNA and protein levels was observed upon JQ1 treatment. Furthermore, results from the RT-qPCR, ChIP-qPCR, and re-ChIP-qPCR assays showed that BRD4 and PML/RARα co-existed on the same regulatory regions of their target genes. Hence, we showed a new discovery of the interaction of BRD4 and PML/RARα, as well as the decline of PML/RARα expression, under JQ1 treatment.
Apoptosis
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drug effects
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Azepines
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pharmacology
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Cell Differentiation
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Down-Regulation
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Gene Expression Regulation, Neoplastic
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drug effects
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Humans
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Leukemia, Promyelocytic, Acute
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drug therapy
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genetics
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Nuclear Proteins
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genetics
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Promyelocytic Leukemia Protein
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genetics
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RNA, Messenger
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genetics
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Retinoic Acid Receptor alpha
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genetics
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Transcription Factors
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genetics
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Triazoles
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pharmacology
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Tumor Cells, Cultured
3.Potential risk factors for mild cognitive impairment in the elderly population in communities of Shanghai
Yuqing TANG ; Jingyu TAN ; Xin HU ; Guangcheng HUANG ; Jiaye GONG ; Qing XU ; Huiyong CAI ; Yulan QIU ; Nannan FENG
Journal of Public Health and Preventive Medicine 2020;31(2):126-130
Objective To investigate the potential risk factors for mild cognitive impairment (MCI) in the elderly population in the community, and to provide a basis for the primary prevention of MCI. Methods A cross-sectional study of elderly population in communities of Shanghai, China was conducted. A total of 368 subjects including both males and females, aged 65-80 years old, were selected to complete the mini-mental state examination (MMSE), basic information questionnaires, and physical examinations. Logistic regression analysis was used to analyze the potential risk factors of MCI. Results Of the 368 subjects participating in the study, 53 were found to have MCI and the prevalence rate was 14.4%. Univariate analysis found that older age, low education, no folic acid supplementation, stroke, osteoporosis and hyperlipidemia were risk factors of MCI. Multiple logistic regression analysis showed that advanced age [OR=1.146 (95%CI: 1.052-1.249)] and osteoporosis [OR=2.371 (95%CI: 1.042-5.396)] were the independent risk factors for MCI, while higher education [OR=0.073 (95%CI: 0.011-0.478)] was a protective factor. Age influenced all the aspects of MMSE scores (all P values <0.05). In addition, the analysis of the results suggested that subjects with regular folic acid supplementation got higher MMSE scores, especially in the aspect of language and praxis (P=0.002). On the contrary, patients with osteoporosis had lower attention and computing power scores (P=0.022). Conclusion The prevalence of MCI increased with age. Low education and osteoporosis may be the independent risk factors for MCI in the elderly population. Although no association was observed between folic acid supplementation and MCI, folic acid supplementation could improve the performance of language and praxis.