Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia.
CTG18.1 is a highly polymorphic and unstable CTG repeat within an intron of the SEF2-1 gene. We tested the CTG18.1 repeat length in affective disorder, schizophrenia, and nonspecific ataxia; these diseases all have shown clinical evidence for anticipation. There was no difference in the allele frequencies comparing the controls and disease groups. The most common allele contains 11 CAGs (35%) followed by alleles with 14-17 CAGs (35%). There was no difference in the distribution of the alleles in the cases vs controls for ataxia (P = 0.11), affective disorders (P = 0.21), or schizophrenia (P = 0.26). The frequency of unstable CTG18.1 alleles was approximately 3% in a population of N. European descent and is not related to the phenotypes tested.
McInnis
M G
MG
Dept of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Swift-Scanlanl
T
T
Mahoney
A T
AT
Vincent
J
J
Verheyen
G
G
Lan
T H
TH
Oruc
L
L
Riess
O
O
Van Broeckhoven
C
C
Chen
H
H
Kennedy
J L
JL
MacKinnon
D F
DF
Margolis
R L
RL
Simpson
S G
SG
McMahon
F J
FJ
Gershon
E
E
Nurnberger
J
J
Reich
T
T
DePaulo
J R
JR
Ross
C A
CA
D000483:Alleles; D001259:Ataxia / Q000235:genetics*; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D001714:Bipolar Disorder / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D012559:Schizophrenia / Q000235:genetics*; D051820:TCF Transcription Factors; D015534:Trans-Activators / Q000235:genetics*; D000073940:Transcription Factor 4; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors; D018911:Trinucleotide Repeats; D044465:White People / Q000235:genetics
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; D051820:TCF Transcription Factors; C532096:TCF4 protein, human; C544894:TCF7L2 protein, human; D015534:Trans-Activators; D000073940:Transcription Factor 4; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors