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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 17, 2016 - Issue 7-8
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Research Article

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

Benjamin GaastraMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
Aleksey ShatunovMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
Sara PulitUniversity Medical Centre Utrecht, Utrecht, The Netherlands,
,
Ashley R. JonesMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
William SprovieroMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
Alexandra GillettDepartment of Statistical Genetics, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
Zhongbo ChenMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
Janine KirbySheffield Institute for Translational Neuroscience, Sheffield, UK,
,
Isabella FoghMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
John F. PowellMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
P. Nigel LeighBrighton and Sussex Medical School, Brighton, UK, and
,
Karen E. MorrisonFaculty of Medicine, University of Southampton, Southampton, UK
,
Pamela J. ShawSheffield Institute for Translational Neuroscience, Sheffield, UK,
,
Christopher E. ShawMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
,
Leonard H. van den BergUniversity Medical Centre Utrecht, Utrecht, The Netherlands,
,
Jan H. VeldinkUniversity Medical Centre Utrecht, Utrecht, The Netherlands,
,
Cathryn M. LewisDepartment of Statistical Genetics, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK,
&
Ammar Al-ChalabiMaurice Wohl Clinical Neuroscience Institute, King’s College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK, Correspondence[email protected]
 show all
Pages 593-599 | Received 29 Apr 2016, Accepted 13 Jun 2016, Published online: 01 Sep 2016

Figures & data

Figure 1. Kaplan–Meier survival curve for the whole population from which the study groups were derived.

Figure 1. Kaplan–Meier survival curve for the whole population from which the study groups were derived.

Figure 2. Visual representation of location of rare and common SNVs within UNC13A and associated LD plot. Intron/exon status and number of individuals in long/short survival groups given for rare SNVs.

Figure 2. Visual representation of location of rare and common SNVs within UNC13A and associated LD plot. Intron/exon status and number of individuals in long/short survival groups given for rare SNVs.

Table I. Demographic features of the long and short survival groups (UK cohort).

Table II. Linkage disequilibrium values for SNPs in UNC13A associated with extremes of survival in a UK population.

Table III. SNV minor allele frequency (MAF) for UK study population and 1000 Genomes Project.

Table IV. Genotype count data for variants of interest in UK discovery cohort.

Figure 3. Long-range LD plot of UNC13A SNV rs10419420. The position of the KCNN1 gene, for which the common rs12608932 SNV in UNC13A acts as an eQTL, is shown with an arrow. Generated using SNP Annotation and Proxy Search (www.broadinstitute.org/mpg/snap/ldplot.php).

Figure 3. Long-range LD plot of UNC13A SNV rs10419420. The position of the KCNN1 gene, for which the common rs12608932 SNV in UNC13A acts as an eQTL, is shown with an arrow. Generated using SNP Annotation and Proxy Search (www.broadinstitute.org/mpg/snap/ldplot.php).
Supplemental material

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