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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans
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Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans

机译:GPCPD1中常见遗传变异与人类视觉皮层表面积缩放的关联

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摘要

Visual cortical surface area varies two- to threefold between human individuals, is highly heritable, and has been correlated with visual' acuity and visual perception. However, it is still largely unknown what specific genetic and environmental factors contribute to normal variation in the area of visual cortex. To identify SNPs associated with the proportional surface area of visual cortex, we performed a genome-wide association study followed by replication in two independent cohorts. We identified one SNP (rs6116869) that replicated in both cohorts and had genome-wide significant association (P_(combined) = 3.2 ×10~(-8)). Furthermore, a metaanalysis of imputed SNPs in this genomic region identified a more significantly associated SNP (rs238295; P = 6.5 ×10~(-9)) that was in strong linkage disequilibrium with rs6116869. These SNPs are located within 4 kb of the 5' UTR of GPCPD1, glycerophosphocholine phosphodiester-ase GDE1 homolog (Saccharomyces cerevisiae), which in humans, is more highly expressed in occipital cortex compared with the remainder of cortex than 99.9% of genes genome-wide. Based on these findings, we conclude that this common genetic variation contributes to the proportional area of human visual cortex. We suggest that identifying genes that contribute to normal cortical architecture provides a first step to understanding genetic mechanisms that underlie visual perception.
机译:视觉皮层表面积在人与人之间变化两倍至三倍,具有很高的遗传力,并与视觉敏锐度和视觉感知相关。然而,仍然不清楚什么特定的遗传和环境因素导致视觉皮层区域的正常变化。为了鉴定与视觉皮层比例表面积相关的SNP,我们进行了全基因组关联研究,然后在两个独立的队列中进行复制。我们确定了一个在两个队列中均复制并具有全基因组显着关联的SNP(rs6116869)(P_(combined)= 3.2×10〜(-8))。此外,对该基因组区域内推算的SNP进行的荟萃分析发现,与rs6116869存在强烈连锁不平衡的关联性更高的SNP(rs238295; P = 6.5×10〜(-9))。这些SNP位于GPCPD1(甘油糖磷酸胆碱磷酸二酯酶GDE1同源物)(Saccharomyces cerevisiae)的GPCPD1的5'UTR的4 kb之内,在人类中,枕叶皮质中的表达高于皮质的其余部分,而基因组中99.9%的基因宽。基于这些发现,我们得出结论,这种常见的遗传变异有助于人类视觉皮层的比例区域。我们建议鉴定有助于正常皮层结构的基因提供了第一步,以了解基础视觉感知的遗传机制。

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  • 作者单位

    Medical Scientist Training Program, University of California at San Diego, La Jolla, CA 92093,Scripps Genomic Medicine and Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037;

    Department of Neurosciences, University of California at San Diego, La Jolla, CA 92093;

    lnstitute of Clinical Medicine, University of Oslo, 0450 Oslo, Norway,Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway;

    Center for Human Development, University of California at San Diego, La Jolla, CA 92093,Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093;

    Department of Psychiatry and Behavioral Sciences, University of California at Davis, Sacramento, CA 95817;

    Scripps Genomic Medicine and Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037;

    Sackler Institute for Developmental Psychobiology, Weill Cornell Medical College, New York, NY 10065;

    Department of Medicine, University of Hawaii and Queen's Medical Center, Honolulu,HI 96813;

    Department of Medicine, University of Hawaii and Queen's Medical Center, Honolulu,HI 96813;

    Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520;

    Center for Human Development, University of California at San Diego, La Jolla, CA 92093,Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093,Sackler Institute for Developmental Psychobiology, Weill Cornell Medical College, New York, NY 10065,Department of Radiology, University of California at San Diego, La Jolla, CA 92093;

    Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

    Department of Neurology and Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Charlestown, MA 02129;

    Department of Psychiatry, University of Massachusetts Medical School, Worcester,MA 01605;

    Department of Radiology, University of California at San Diego, La Jolla, CA 92093;

    Scripps Genomic Medicine and Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037;

    Department of Pediatrics, University of Southern California, Los Angeles, CA 90027,Department of Pediatrics, Children's Hospital Los Angeles,Los Angeles, CA 90027;

    lnstitute of Clinical Medicine, University of Oslo, 0450 Oslo, Norway;

    lnstitute of Clinical Medicine, University of Oslo, 0450 Oslo, Norway,Division of Mental Health and Addiction, Oslo University Hospital, 0424 Oslo, Norway;

    lnstitute of Clinical Medicine, University of Oslo, 0450 Oslo, Norway,Division of Mental Health and Addiction, Oslo University Hospital, 0424 Oslo, Norway;

    lnstitute of Clinical Medicine, University of Oslo, 0450 Oslo, Norway,Department of Research and Development,Diakonhjemmet Hospital, 0319 Oslo, Norway;

    lnstitute of Clinical Medicine, University of Oslo, 0450 Oslo, Norway,Division of Mental Health and Addiction, Oslo University Hospital, 0424 Oslo, Norway;

    Scripps Genomic Medicine and Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037,Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037;

    Department of Neurosciences, University of California at San Diego, La Jolla, CA 92093,Department of Radiology, University of California at San Diego, La Jolla, CA 92093;

    Scripps Genomic Medicine and Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037;

    Scripps Genomic Medicine and Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037;

  • 收录信息 美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    allometry; brain morphometry; imaging genetics; V1;

    机译:异速脑形态计量学成像遗传学;V1;

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