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Table 1 Effect of PPARGC1A rs3736265 on AO

From: A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort

 

rs3736265 genotype

P1

P2

 

CC

CT

TT

  

All

     

N

1518

186

2

  

HD CAG repeat size

44.7 (4.6)

44.7 (3.8)

46.0 (2.8)

n.s.

n.s.

non-HD CAG repeat size

18.5 (3.4)

18.5 (3.3)

19.0 (2.8)

n.s.

n.s

CAG-product3

828 (178)

831 (185)

870 (76)

n.s.

n.s.

Log AO4

1.641 (0.128)

1.627 (0.126)

1.601 (0.088)

0.0519

0.0170

AO5

43.75

42.36

39.9

  

Men

     

N

784

84

1

  

HD CAG repeat size

44.8 (4.5)

44.5 (.2)

44.0 (0)

n.s.

n.s.

non-HD CAG repeat size

18.6 (3.5)

18.8 (3.5)

21.0 (0)

n.s.

n.s

CAG-product3

836 (185)

840 (176)

924 (0)

n.s.

n.s.

Log AO4

1.655 (0.128)

1.629 (0.126)

1.638 (0)

0.0164

0.0042

AO5

45.19

42.56

43.45

  

Women

     

N

734

102

1

  

HD CAG repeat size

44.5 (4.7)

44.8 (4.2)

48.0 (0)

n.s.

n.s.

non-HD CAG repeat size

18.4 (3.4)

18.3 (3.2)

17.0 (0)

n.s.

n.s.

CAG-product3

818 (170)

823 (192)

816

n.s.

n.s.

Log AO4

1.626 (0.128)

1.622 (0.127)

1.568 (0)

0.6732

0.5705

AO5

42.27

41.88

36.98

  
  1. Data are means (SD); P1, additive model; P2, dominant model; ANOVA; 3product of the CAG sizes in the two alleles 4adjusted for HD CAG and non-HD CAG sizes and their products. 5ANOVA was used and the p-values refer to the log-transformed age-at-onset. The age-at-onset is only shown to give an estimate of the effects that is easier to interpret. All genotype distributions are in HW equilibrium, MAF in entire population 0.0554.
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BMC Neurology

ISSN: 1471-2377

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