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| 1 | 骨质疏松症相关基因研究进展显示文摘骨质疏松症(osteoporosis)是一种常见的全身性、代谢性骨病,其特征为骨量减少和骨组织结构破坏,导致骨密度(bone mineral density,BMD)下降和脆性骨折的风险增加[1-2]。在成年期,随着年龄的增长,骨量逐渐减少,所以骨质疏松症是公认的老年人常见疾病。骨质疏松症影响了全世界范围内三分之一的女性和八分之一50岁以上的男性[3]。 | 赵航 马慧娟 王超 | 2019 | 实用老年医学2019，33，6： | 9 |
| 2 | Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications显示文摘Osteoporosis is a common skeletal disease,affecting-200 million people around the world.As a complex disease,osteoporosis is influenced by many factors,including diet(e.g.calcium and protein intake),physical activity,endocrine status,coexisting diseases and genetic factors.In this review,we first summarize the discovery from genome-wide association studies(GWASs)in the bone field in the last 12 years.To date,GWASs and meta-analyses have discovered hundreds of loci that are associated with bone mineral density(BMD),osteoporosis,and osteoporotic fractures.However,the GWAS approach has sometimes been criticized because of the small effect size of the discovered variants and the mystery of missing heritability,these two questions could be partially explained by the newly raised conceptual models,such as omnigenic model and natural selection.Finally,we introduce the clinical use of GWAS findings in the bone field,such as the identification of causal clinical risk factors,the development of drug targets and disease prediction.Despite the fruitful GWAS discoveries in the bone field,most of these GWAS participants were of European descent,and more genetic studies should be carried out in other ethnic populations to benefit disease prediction in the corresponding population. | Xiaowei Zhu Weiyang Bai Houfeng Zheng | 2021 | Bone Research2021，9，3： | 5 |
| 3 | A genome-wide association study of Alzheimer's disease using random forests and enrichment analysis显示文摘Alzheimer's disease(AD) is a serious neurodegenerative disorder and its cause remains largely elusive.In past years,genome-wide association(GWA) studies have provided an effective means for AD research.However,the univariate method that is commonly used in GWA studies cannot effectively detect the biological mechanisms associated with this disease.In this study,we propose a new strategy for the GWA analysis of AD that combines random forests with enrichment analysis.First,backward feature selection using random forests was performed on a GWA dataset of AD patients carrying the apolipoprotein gene(APOEε4) and 1058 susceptible single nucleotide polymorphisms(SNPs) were detected,including several known AD-associated SNPs.Next,the susceptible SNPs were investigated by enrichment analysis and significantly-associated gene functional annotations,such as 'alternative splicing','glycoprotein',and 'neuron development',were successfully discovered,indicating that these biological mechanisms play important roles in the development of AD in APOEε4 carriers.These findings may provide insights into the pathogenesis of AD and helpful guidance for further studies.Furthermore,this strategy can easily be modified and applied to GWA studies of other complex diseases. | ZOU Liang HUANG Qiong LI Ao WANG MingHui | 2012 | Science China(Life Sciences)2012，55，7： | 2 |
| 4 | 骨质疏松易感SNP rs4325274通过增强子远程调控SOX6基因的功能机制研究显示文摘骨质疏松症是一种典型的多基因复杂疾病,遗传力高达85%,其发病率已跃居常见疾病的第5位。尽管已经鉴定出大量骨质疏松易感SNP,但大多数SNP位点位于基因组非编码区,且功能机制未知。本研究旨在通过生物信息学分析和功能实验探究骨质疏松非编码功能性易感SNP rs4325274的分子调控机制。首先,通过表观注释发现该SNP所在区域处在增强子上,eQTL和Hi-C分析结果发现SNP调控的潜在靶基因是SOX6;然后,利用多种数据库进行Motif预测,并结合GEO数据库中的ChIP-seq数据分析进行了验证,结果发现转录因子HNF1A更倾向于结合SNP rs4325274-G碱基;进一步通过双荧光素酶报告基因实验验证了该SNP对SOX6基因表达的增强作用;最后,利用shRNA敲低转录因子HNF1A实验,检测靶基因SOX6的表达变化。以上研究结果初步解析了非编码区功能性SNPrs4325274作为增强子远程调控SOX6基因表达的分子机制,为复杂疾病非编码易感SNP的遗传调控研究提供新思路。 | 妥晓梅 朱东丽 陈晓峰 荣誉 郭燕 杨铁林 | 2020 | 遗传2020，42，9： | 1 |
| 5 | Latest notable achievements in genomics显示文摘Within the past 10 years, the progress of genomics development in China exhibited a frogleap in terms of scale,quality, organization, and international collaboration. | WU JiaYan XIAO JingFa YU Jun | 2012 | Science China(Life Sciences)2012，55，7： | 0 |
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