Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
文献类型：期刊论文
| 作者 | Justice, Anne E.228,229; Highland, Heather M.225,225,229,229,229; Young, Kristin L.229,229; Graff, Mariaelisa229,229; North, Kari E.6,229,229; Justice, Anne E.228,229; van Duijn, Cornelia M.228; Karaderi, Tugce226,227; Mahajan, Anubha227,227,227,227; Gan, Wei227 |
| 刊名 | NATURE GENETICS
 |
| 出版日期 | 2019 |
| 卷号 | 51期号:3页码:452-+ |
| ISSN号 | 1061-4036 |
| DOI | 10.1038/s41588-018-0334-2 |
| 文献子类 | Article |
| 英文摘要 | Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants. |
| 学科主题 | Genetics & Heredity |
| WOS关键词 | GENOME-WIDE ASSOCIATION ; TYPE-2 DIABETES SUSCEPTIBILITY ; ADIPOSE-TISSUE ; KINASE 7 ; ADIPOCYTE DIFFERENTIATION ; RS11209026 POLYMORPHISM ; ABDOMINAL ADIPOSITY ; WAIST CIRCUMFERENCE ; INSULIN-RESISTANCE ; RECEPTOR ALK7 |
| 语种 | 英语 |
| WOS记录号 | WOS:000459947200014 |
| 出版者 | NATURE PUBLISHING GROUP |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/495]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Ctr Noncommunicable Dis, Karachi, Pakistan; 2.Brigham & Womens, Div Prevent Med, Boston, MA USA; 3.Harvard Med Sch, Boston, MA 02115 USA; 4.AREA Sci Pk, Ilaria Gandin Res Unit, Trieste, Italy; 5.Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, England, 6.Univ N Carolina, Carolina Ctr Genome Sci, Chapel Hill, NC 27515 USA; 7.Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA; 8.Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA; 9.Lausanne Univ Hosp, Inst Social & Prevent Med, Lausanne, Switzerland; 10.King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, Jeddah, Saudi Arabia; |
| 推荐引用方式 GB/T 7714 | Justice, Anne E.,Highland, Heather M.,Young, Kristin L.,et al. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution[J]. NATURE GENETICS,2019,51(3):452-+. |
| APA | Justice, Anne E..,Highland, Heather M..,Young, Kristin L..,Graff, Mariaelisa.,North, Kari E..,...&,.(2019).Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.NATURE GENETICS,51(3),452-+. |
| MLA | Justice, Anne E.,et al."Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution".NATURE GENETICS 51.3(2019):452-+. |
入库方式： OAI收割
来源：上海营养与健康研究所
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