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PCSK6 与阅读障碍个体的利手性有关。

PCSK6 is associated with handedness in individuals with dyslexia.

机构信息

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.

出版信息

Hum Mol Genet. 2011 Feb 1;20(3):608-14. doi: 10.1093/hmg/ddq475. Epub 2010 Nov 4.

Abstract

Approximately 90% of humans are right-handed. Handedness is a heritable trait, yet the genetic basis is not well understood. Here we report a genome-wide association study for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)]. The most highly associated marker, rs11855415 (P = 4.7 × 10(-7)), is located within PCSK6. Two independent cohorts with RD show the same trend, with the minor allele conferring greater relative right-hand skill. Meta-analysis of all three RD samples is genome-wide significant (n = 744, P = 2.0 × 10(-8)). Conversely, in the general population (n = 2666), we observe a trend towards reduced laterality of hand skill for the minor allele (P = 0.0020). These results provide molecular evidence that cerebral asymmetry and dyslexia are linked. Furthermore, PCSK6 is a protease that cleaves the left-right axis determining protein NODAL. Functional studies of PCSK6 promise insights into mechanisms underlying cerebral lateralization and dyslexia.

摘要

大约 90%的人是右撇子。惯用手是一种可遗传的特征,但遗传基础尚不清楚。在这里,我们报告了一项针对阅读障碍(RD)个体相对手部技能的定量测量的全基因组关联研究。最相关的标记 rs11855415(P=4.7×10(-7))位于 PCSK6 内。两个具有 RD 的独立队列都显示出相同的趋势,次要等位基因赋予更大的相对右手技能。所有三个 RD 样本的荟萃分析在全基因组范围内具有统计学意义(n=744,P=2.0×10(-8))。相反,在普通人群(n=2666)中,我们观察到次要等位基因对手部技能的左右侧性降低的趋势(P=0.0020)。这些结果提供了分子证据,表明大脑不对称性和阅读障碍是相关的。此外,PCSK6 是一种蛋白酶,可切割左右轴决定蛋白 NODAL。PCSK6 的功能研究有望深入了解大脑偏侧化和阅读障碍的机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53c3/3016905/139cc7627a39/ddq47501.jpg

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