Appendix e-1 - Neurology

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2 Οκτ 2013 (πριν από 3 χρόνια και 11 μήνες)

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Appendix e
-
1

C9ORF72

repeat and the 9p21.2 haplotype
.
For 630 patients with ALS and a
known
C9ORF72

genotype, SNP genotypes were available from genome wide
association studies that we have performed earlier.
e
1

For these patients, 40 carried
the repeat expansion (2 fALS and 38 sALS) and 590 patients were homozygous for
the wild
-
type
C9ORF72

gene (5 fALS and 58
5 sALS). Quality control for these data
was performed as described earlier.
e
1

We tested 20 SNPs within the previously
reported haplotype block at chromos
ome 9p21.2 (chr9:27468052
-
27579657) for an
association with the
C9ORF72

repeat expansion.
e
2

This was
done in Haploview v4.2
software for the detection of haplotypes.
e
3

We used the
Χ
2
-
test to determine the
assoc
i
ation between different haplotypes and the
C9ORF72

repeat expansion.


e
-
References


e
1.

van Es M, Veldink J, Saris C, et al. Genome
-
wide association study identifies
19p13. 3 (UNC13A) and 9p21. 2 as susceptibility loci for sporadic amyotrophic lateral
sclerosis. Nature Genetics 2009;41:1083
-
1087.

e
2.

Mok K,

Traynor BJ, Schymick J, et al. The chromosome 9 ALS and FTD locus
is probably derived from a single founder. Neurobiology of aging 2012;33:209.e203
-
208.

e
3.

Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of
LD and haplotype ma
ps. Bioinformatics (Oxford, England) 2005;21:263
-
265.