检索范围:
排序: 展示方式:
Song-Song XU, Meng-Hua LI
《农业科学与工程前沿(英文)》 2017年 第4卷 第3期 页码 279-288 doi: 10.15302/J-FASE-2017151
关键词: sheep high-throughput screening productive traits genome-wide studies
null
《医学前沿(英文)》 2015年 第9卷 第2期 页码 146-161 doi: 10.1007/s11684-014-0373-8
Obesity prevalence has increased in recent years. Lifestyle change fuels obesity, but genetic factors cause more than 50% of average variations in obesity. The advent of genome-wide association studies (GWAS) has hastened the progress of polygenic obesity research. As of this writing, more than 73 obesity susceptibility loci have been identified in ethnic groups through GWAS. The identified loci explain only 2% to 4% of obesity heritability, thereby indicating that a large proportion of loci remain undiscovered. Thus, the next step is to identify and confirm novel loci, which may exhibit smaller effects and lower allele frequencies than established loci. However, achieving these tasks has been difficult for researchers. GWAS help researchers discover the causal loci. Moreover, numerous biological studies have been performed on the polygenic effects on obesity, such as studies on fat mass- and obesity-associated gene (FTO), but the role of these polygenic effects in the mechanism of obesity remains unclear. Thus, obesity-causing variations should be identified, and insights into the biology of polygenic effects on obesity are needed.
关键词: obesity genetics genome-wide association studies body mass index fat mass- and obesity-associated gene
SARS-CoV-2 variants, immune escape, and countermeasures
《医学前沿(英文)》 2022年 第16卷 第2期 页码 196-207 doi: 10.1007/s11684-021-0906-x
关键词: SARS-CoV-2 COVID-19 vaccine immune escape breakthrough prevention
A review on the electric vehicle routing problems: Variants and algorithms
Hu QIN , Xinxin SU, Teng REN, Zhixing LUO
《工程管理前沿(英文)》 2021年 第8卷 第3期 页码 370-389 doi: 10.1007/s42524-021-0157-1
关键词: electric vehicles routing recharging stations exact algorithms metaheuristics
Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
《医学前沿(英文)》 2021年 第15卷 第6期 页码 877-886 doi: 10.1007/s11684-021-0863-4
关键词: penetrance PRRT2 paroxysmal kinesigenic dyskinesia infantile convulsions
《医学前沿(英文)》 doi: 10.1007/s11684-023-1009-7
《医学前沿(英文)》 2021年 第15卷 第3期 页码 438-447 doi: 10.1007/s11684-020-0826-1
关键词: sporadic thoracic aortic dissection exome sequencing gene COL3A1 case–control study extracellular matrix
R158Q and G212S, novel pathogenic compound heterozygous variants in of Gitelman syndrome
《医学前沿(英文)》 2022年 第16卷 第6期 页码 932-945 doi: 10.1007/s11684-022-0963-9
关键词: Gitelman syndrome mouse model compound heterozygous hypokalemia Slc12a3
null
《医学前沿(英文)》 2015年 第9卷 第4期 页码 478-486 doi: 10.1007/s11684-015-0420-0
Telomeres play a critical role in biological ageing by maintaining chromosomal integrity and preventing chromosome ends fusion. Epidemiological studies have suggested that inter-individual differences of telomere length could affect predisposition to multiple cancers, but evidence regarding esophageal squamous cell carcinoma (ESCC) was still uncertain. Several telomere length-related single nucleotide polymorphisms (TL-SNPs) in Caucasians have been reported in genome-wide association studies. However, the effects of telomere length and TL-SNPs on ESCC development are unclear. Therefore, we conducted a case-control study (1045 ESCC cases and 1433 controls) to evaluate the associations between telomere length, TL-SNPs, and ESCC risk in Chinese population. As a result, ESCC cases showed overall shorter relative telomere length (RTL) (median: 1.34) than controls (median: 1.50, P<0.001). More interestingly, an evident nonlinear U-shaped association was observed between RTL and ESCC risk (P<0.001), with odds ratios (95% confidence interval) equal to 2.40 (1.84–3.14), 1.36 (1.03–1.79), 1.01 (0.76–1.35), and 1.37 (1.03–1.82) for individuals in the 1st (the shortest), 2nd, 3rd, and 5th (the longest) quintile, respectively, compared with those in the 4th quintile as reference group. No significant associations were observed between the eight reported TL-SNPs and ESCC susceptibility. These findings suggest that either short or extremely long telomeres may be risk factors for ESCC in the Chinese population.
关键词: esophageal squamous cell carcinoma telomere length genetic variants susceptibility genome-wide association study
Jennifer Welsh
《工程(英文)》 2021年 第7卷 第6期 页码 712-714 doi: 10.1016/j.eng.2021.04.005
Na Qin, Yuancheng Li, Cheng Wang, Meng Zhu, Juncheng Dai, Tongtong Hong, Demetrius Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Gary Goodman, Stig E. Bojesen, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeboller, Gadi Rennert, Susanne Arnold, Paul Brennan, John K. Field, Sanjay Shete, Loic Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J. Hung, Angeline Andrew, Lambertus A. Kiemeney, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Penella Woll, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Victoria L. Stevens, Guangfu Jin, David C. Christiani, Zhibin Hu, Christopher I. Amos, Hongxia Ma, Hongbing Shen
《医学前沿(英文)》 2021年 第15卷 第2期 页码 275-291 doi: 10.1007/s11684-020-0779-4
关键词: lung cancer genome-wide association study function annotation immune homologous recombination repair deficiency genetic heterogeneity
Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature
《医学前沿(英文)》 doi: 10.1007/s11684-023-0982-1
关键词: machine learning methods hypertrophic cardiomyopathy genetic risk
《医学前沿(英文)》 doi: 10.1007/s11684-022-0954-x
关键词: COVID-19 convalescent SARS-CoV-2 inactivated vaccination neutralizing antibody B cell response
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in
《医学前沿(英文)》 2022年 第16卷 第5期 页码 808-814 doi: 10.1007/s11684-021-0878-x
关键词: epidermolysis bullosa LAMA3 COL7A1 KRT5 Chinese families
Interplay between diet and genetic susceptibility in obesity and related traits
Tiange Wang, Min Xu, Yufang Bi, Guang Ning
《医学前沿(英文)》 2018年 第12卷 第6期 页码 601-607 doi: 10.1007/s11684-018-0648-6
The incidence of obesity has been rapidly increasing, and this condition has become a major public health threat. A substantial shift in environmental factors and lifestyle, such as unhealthy diet, is among the major driving forces of the global obesity pandemic. Longitudinal studies and randomized intervention trials have shown that genetic susceptibility to obesity may interact with dietary factors in relation to the body mass index and risk of obesity. This review summarized data from recent longitudinal studies and intervention studies on variations and diets and discussed the challenges and future prospects related to this area and public health implications.
标题 作者 时间 类型 操作
Recent advances in understanding genetic variants associated with economically important traits in sheep
Song-Song XU, Meng-Hua LI
期刊论文
Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies
null
期刊论文
A review on the electric vehicle routing problems: Variants and algorithms
Hu QIN , Xinxin SU, Teng REN, Zhixing LUO
期刊论文
Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
期刊论文
High frequency of alternative splicing variants of the oncogene in neuroendocrine tumors of the pancreas
期刊论文
Identification of variants associated with sporadic thoracic aortic dissection: a case--control study
期刊论文
U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population
null
期刊论文
Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between
Na Qin, Yuancheng Li, Cheng Wang, Meng Zhu, Juncheng Dai, Tongtong Hong, Demetrius Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Gary Goodman, Stig E. Bojesen, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeboller, Gadi Rennert, Susanne Arnold, Paul Brennan, John K. Field, Sanjay Shete, Loic Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J. Hung, Angeline Andrew, Lambertus A. Kiemeney, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Penella Woll, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Victoria L. Stevens, Guangfu Jin, David C. Christiani, Zhibin Hu, Christopher I. Amos, Hongxia Ma, Hongbing Shen
期刊论文
Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature
期刊论文
Neutralization against SARS-CoV-2 Delta/Omicron variants and B cell response after inactivated vaccination
期刊论文
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in
期刊论文