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Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10 被引量:8
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作者 Jing Yan Feng Jiang +7 位作者 Rong Zhang Tongfu Xu Zhou Zhou Wei Ren Danfeng Peng Yong Liu Cheng Hu Weiping Jia 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2017年第5期376-383,共8页
Monognnic diabetes is often misdiagnosed with type 2 diabetes due to overlapping characteristics. This study aimed to discover novel causative mutations of monogenic diabetes in patients with clinically diagnosed type... Monognnic diabetes is often misdiagnosed with type 2 diabetes due to overlapping characteristics. This study aimed to discover novel causative mutations of monogenic diabetes in patients with clinically diagnosed type 2 diabetes and to explore potential molecular mechanisms. Whole-exome sequencing was performed on 31 individuals clinically diagnosed with type 2 diabetes. One novel heterozygnus mutation (p^la2Thr) in INS was identified. It was further gnnotyped in an additional case-control population (6523 cases and 4635 controls), and this variant was observed in 0.09% of cases. IntraceUular trafficking of insulin proteins was assessed in INSl-E and HEK293T cells, p.Ala2Thr preproinsuUn-GFP was markedly retained in the endoplasmic reticulum (ER) in INS1-E cells. Activation of the PERK-elF2a-ATF4, IREla-XBP1, and ATF6 pathways as well as upregulated ER chaperones were detected in INS1-E cells transfected with the p.Ala2Thr mutant. In conclusion, we identified a causative mutation in IN5 respon- sible for maturity-onset diabetes of the young 10 (MODYIO) in a Chinese population and demonstrated that this mutation affected 13 cell function by inducing ER stress. 展开更多
关键词 whole-exome sequencing causative mutation MODYIO endoplasmic reticulum stress
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Healthy lifestyles in relation to cardiometabolic diseases among schoolteachers:A cross-sectional study
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作者 Liyan Huang Mengjie He +9 位作者 Jie Shen Yiying Gong Hui Chen Xiaolin Xu Geng Zong Yan Zheng Chao Jiang Baohong Wang Ronghua Zhang Changzheng Yuan 《Health Care Science》 2023年第4期223-232,共10页
Background:We aimed to explore the associations of adherence to an overall healthy lifestyle with cardiometabolic diseases(CMDs)among schoolteachers in China.Methods:We conducted a cross-sectional analysis among 2983 ... Background:We aimed to explore the associations of adherence to an overall healthy lifestyle with cardiometabolic diseases(CMDs)among schoolteachers in China.Methods:We conducted a cross-sectional analysis among 2983 teachers(aged 39.8±9.3 years,73.8%women)in Zhejiang Province,China.A healthy lifestyle score(0–7)was constructed based on seven low-risk factors:healthy diet,noncurrent smoking,noncurrent drinking,regular exercise,normal body mass index(BMI),adequate sleep duration,and limited sedentary behavior.CMDs included self-reported hyperlipidemia,hypertension,diabetes,coronary heart disease,and stroke.Multivariable-adjusted logistic regression models were used to evaluate the associations between healthy lifestyle and CMD.Results:A total of 493(16.5%)participants had at least one CMD,with hyperlipidemia,hypertension,and diabetes being the three leading CMDs.ach point increment in a healthy lifestyle score was associated with 20%lower odds of having CMD(p-trend<0.001).Compared with 0–3 low-risk factors,the odds ratios(ORs)and 95%confidence intervals(CIs)were 0.66(0.50–0.88)for 4 low-risk factors and 0.51(0.39–0.67)for 5–7 low-risk factors.We observed independent associations for normal BMI(OR=0.50,95%CI=0.40–0.63),noncurrent drinking(OR=0.53,95%CI=0.36–0.77),and limited sedentary behavior(OR=0.77,95%CI=0.62–0.96)in relation to CMD.Healthy diet(OR=0.75,95%CI=0.55–1.01)exhibited marginally significant association with CMD.Conclusions:Our findings suggest that adherence to an overall healthy lifestyle is associated with lower odds of CMD among schoolteachers. 展开更多
关键词 healthy lifestyle cardiometabolic diseases schoolteachers cross-sectional study
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