生物谷报道:目前,科学家已揭开人们在身材尺寸上有明显差异的谜底。一项国际范围内的基因组研究发现了影响身高的10个新的基因,从而提供了对人类成长很重要的生物学方面的新视角。
这项分析得出了一些生物学方面的深刻发现。几个可识别的基因被名为let-7的小分子 RNA当作靶点,从而影响了其他基因的秩序,基因之间的这种联系直到现在才被发现。一些其他的单核苷酸多态性(SNPs)可能影响染色体周围的蛋白质,影响染色质的结构。而且,这项研究结果可能与患有遗传性生长疾病或是有骨骼发育问题的病人有关,因为一些最新发现的基因具有与反常的骨骼发育有关的罕见变异。要完全阐明与身高有关的生长基因序列背后的生物学机制,还需要进一步的功能性研究。
这项整合分析是在超过2.6万个研究参与者的数据基础上产生的,它刊登在《自然—遗传学》(Nature Genetics)杂志上。(生物谷www.bioon.com)
生物谷推荐原始出处:
Nature Genetics,doi:10.1038/ng.125,Guillaume Lettre,Joel N Hirschhorn
Identification of ten loci associated with height highlights new biological pathways in human growth
Guillaume Lettre1,2, Anne U Jackson3,25, Christian Gieger4,5,25, Fredrick R Schumacher6,7,25, Sonja I Berndt8,25, Serena Sanna3,9,25, Susana Eyheramendy4,5, Benjamin F Voight1,10, Johannah L Butler2, Candace Guiducci1, Thomas Illig4, Rachel Hackett1, Iris M Heid4,5, Kevin B Jacobs11, Valeriya Lyssenko12, Manuela Uda9, The Diabetes Genetics Initiative24, FUSION24, KORA24, The Prostate, Lung Colorectal and Ovarian Cancer Screening Trial24, The Nurses' Health Study24, SardiNIA24, Michael Boehnke3, Stephen J Chanock13, Leif C Groop12,14, Frank B Hu6,7,15, Bo Isomaa16,17, Peter Kraft7, Leena Peltonen1,18,19, Veikko Salomaa20, David Schlessinger21, David J Hunter1,6,7,15, Richard B Hayes8, Gonçalo R Abecasis3, H-Erich Wichmann4,5, Karen L Mohlke22 & Joel N Hirschhorn1,2,23
Abstract
Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in >10,000 subjects. Ten newly identified and two previously reported loci were strongly associated with variation in height (P values from 4 10- 7 to 8 10- 22). Together, these 12 loci account for 2% of the population variation in height. Individuals with 8 height-increasing alleles and 16 height-increasing alleles differ in height by 3.5 cm. The newly identified loci, along with several additional loci with strongly suggestive associations, encompass both strong biological candidates and unexpected genes, and highlight several pathways (let-7 targets, chromatin remodeling proteins and Hedgehog signaling) as important regulators of human stature. These results expand the picture of the biological regulation of human height and of the genetic architecture of this classical complex trait.