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Table 2 Comparison of genotype and allele frequencies of EHMT1 and EHMT2 missense variants between autism spectrum disorder (ASD) cases and controls

From: Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects

Gene

Variant

Subject

Genotype

P-value

Allele

P-value

MAFa(%)

EHMT1

c.2903A > G

 

A/A

A/G

G/G

 

A

G

 

G

Lys968Arg

Autism

292

1

0

0.14

585

1

0.46

0.170

(ANK repeat domain)

Control

1,139

0

0

 

2,278

0

 

0

EHMT2

c.2882C > T

 

C/C

C/T

T/T

 

C

T

 

T

Thr961Ile

Autism

292

1

0

0.14

585

1

0.46

0.170

 

(SET domain)

Control

1,139

0

0

 

2,278

0

 

0

  1. aMAF: minor allele frequency. ANK, ankyrin repeat domain; SET, Su(var)3-9-Enhancer of zeste-Trithorax domain.
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Molecular Autism

ISSN: 2040-2392