We analyzed the genomic architecture of neuroanatomical diversity using magnetic resonance imaging and single nucleotide polymorphism (SNP) data from >26 000 individuals from the UK Biobank project and 5 other projects that had previously participated in the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) consortium. Our results confirm the polygenic architecture of neuroanatomical diversity, with SNPs capturing from 40% to 54% of regional brain volume variance. Chromosomal length correlated with the amount of phenotypic variance captured, r ~ 0.64 on average, suggesting that at a global scale causal variants are homogeneously distributed across the genome. At a local scale, SNPs within genes (~51%) captured ~1.5 times more genetic variance than the rest, and SNPs with low minor allele frequency (MAF) captured less variance than the rest: the 40% of SNPs with MAF <5% captured <one fourth of the genetic variance. We also observed extensive pleiotropy across regions, with an average genetic correlation of r_G ~ 0.45. Genetic correlations were similar to phenotypic and environmental correlations; however, genetic correlations were often larger than phenotypic correlations for the left/right volumes of the same region. The heritability of differences in left/right volumes was generally not statistically significant, suggesting an important influence of environmental causes in the variability of brain asymmetry. Our code is available athttps://github.com/neuroanatomy/genomic-architecture.

中文翻译：

---

人类神经解剖学多样性的多基因体系结构

我们使用磁共振成像和来自英国生物库项目以及之前参与过ENIGMA（通过元分析来增强神经成像遗传学）的其他5个项目的> 26 000名个体的单核苷酸多态性（SNP）数据，分析了神经解剖多样性的基因组结构。财团。我们的研究结果证实了神经解剖学多样性的多基因结构，SNPs捕获了40％至54％的区域大脑体积变化。染色体长度与捕获的表型变异量相关，r 平均约为0.64，这表明在全球范围内，因果变异在基因组中均匀分布。在局部范围内，基因内的SNP（〜51％）捕获的遗传变异是其余基因的1.5倍，而次要等位基因频率较低（MAF）的SNP捕获的遗传变异要比其余基因少：MAF <5的SNP占40％捕获的百分比<遗传变异的四分之一。我们还观察到了区域之间广泛的多效性，平均遗传相关性为r _G 〜0.45。遗传相关性类似于表型和环境相关性。然而，对于同一区域的左/右体积，遗传相关性通常大于表型相关性。左/右体积差异的遗传性通常没有统计学意义，表明环境原因在脑不对称性变异中具有重要影响。我们的代码可从https://github.com/neuroanatomy/genomic-architecture获得。