Rare variant associations with waist-to-hip ratio in european-american and african-american women from the nhlbi-exome sequencing project
文献类型：期刊论文
| 作者 | Kan, Mengyuan1,2; Auer, Paul L.3,25; Wang, Gao T.1; Bucasas, Kristine L.1; Hooker, Stanley1; Rodriguez, Alejandra1,26; Li, Biao1; Ellis, Jaclyn4; Cupples, L. Adrienne5,6; Chen, Yii-Der Ida7,8,9 |
| 刊名 | European journal of human genetics
 |
| 出版日期 | 2016-08-01 |
| 卷号 | 24期号:8页码:1181-1187 |
| ISSN号 | 1018-4813 |
| DOI | 10.1038/ejhg.2015.272 |
| 通讯作者 | Leal, suzanne m.(sleal@bcm.edu) |
| 英文摘要 | Waist-to-hip ratio (whr), a relative comparison of waist and hip circumferences, is an easily accessible measurement of body fat distribution, in particular central abdominal fat. a high whr indicates more intra-abdominal fat deposition and is an established risk factor for cardiovascular disease and type 2 diabetes. recent genome-wide association studies have identified numerous common genetic loci influencing whr, but the contributions of rare variants have not been previously reported. we investigated rare variant associations with whr in 1510 european-american and 1186 african-american women from the national heart, lung, and blood institute-exome sequencing project. association analysis was performed on the gene level using several rare variant association methods. the strongest association was observed for rare variants in ikbkb (p = 4.0 x 10(-8)) in european-americans, where rare variants in this gene are predicted to decrease whrs. the activation of the ikbkb gene is involved in inflammatory processes and insulin resistance, which may affect normal food intake and body weight and shape. meanwhile, aggregation of rare variants in cobll1, previously found to harbor common variants associated with whr and fasting insulin, were nominally associated (p = 2.23 x 10(-4)) with higher whr in european-americans. however, these significant results are not shared between african-americans and european-americans that may be due to differences in the allelic architecture of the two populations and the small sample sizes. our study indicates that the combined effect of rare variants contribute to the inter-individual variation in fat distribution through the regulation of insulin response. |
| WOS关键词 | BODY-FAT DISTRIBUTION ; NF-KAPPA-B ; INDUCED INSULIN-RESISTANCE ; GENOME-WIDE ASSOCIATION ; CORONARY-HEART-DISEASE ; IKK-BETA ; ABDOMINAL ADIPOSITY ; GENERAL FRAMEWORK ; QUALITY-CONTROL ; OBESITY |
| WOS研究方向 | Biochemistry & Molecular Biology ; Genetics & Heredity |
| WOS类目 | Biochemistry & Molecular Biology ; Genetics & Heredity |
| 语种 | 英语 |
| 出版者 | NATURE PUBLISHING GROUP |
| WOS记录号 | WOS:000380390300017 |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2374462 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Leal, Suzanne M. |
| 作者单位 | 1.Baylor Coll Med, Dept Mol & Human Genet, Ctr Stat Genet, One Baylor Plaza 700D, Houston, TX 77030 USA 2.Chinese Acad Sci, Grad Sch, Shanghai Inst Biol Sci, Inst Nutr Sci, Shanghai, Peoples R China 3.Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA 4.Univ N Carolina, Dept Genet, Chapel Hill, NC USA 5.Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02215 USA 6.NHLBI, Framingham Heart Study, Framingham, MA USA 7.Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA 8.Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA 9.Harbor UCLA Med Ctr, Dept Med, Torrance, CA 90509 USA 10.Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, Minneapolis, MN USA |
| 推荐引用方式 GB/T 7714 | Kan, Mengyuan,Auer, Paul L.,Wang, Gao T.,et al. Rare variant associations with waist-to-hip ratio in european-american and african-american women from the nhlbi-exome sequencing project[J]. European journal of human genetics,2016,24(8):1181-1187. |
| APA | Kan, Mengyuan.,Auer, Paul L..,Wang, Gao T..,Bucasas, Kristine L..,Hooker, Stanley.,...&Leal, Suzanne M..(2016).Rare variant associations with waist-to-hip ratio in european-american and african-american women from the nhlbi-exome sequencing project.European journal of human genetics,24(8),1181-1187. |
| MLA | Kan, Mengyuan,et al."Rare variant associations with waist-to-hip ratio in european-american and african-american women from the nhlbi-exome sequencing project".European journal of human genetics 24.8(2016):1181-1187. |
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来源：中国科学院大学
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