Genetic analysis of FMR1 repeat expansion in essential tremor

L. N. Clark; X. Ye; X. Liu; E. D. Louis

doi:10.1016/j.neulet.2015.03.027

Genetic analysis of FMR1 repeat expansion in essential tremor

L. N. Clark, X. Ye, X. Liu, E. D. Louis

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12 Scopus citations

Abstract

We performed an association analysis of Fragile X mental retardation 1 (FMR1) CGG repeats in 321 essential tremor (ET) cases and 296 controls at Columbia University. In addition to analyzing the allele distribution (10-49 CGG repeats) in the entire sample, we also performed a screen for ET cases with the FMR1 premutation allele (55-200 CGG repeats), and evaluated an association between ET and FMR1 alleles that included gray zone alleles (41-54 CGG repeats). CGG premutation alleles and gray zone alleles were rare in ET cases, and we found no evidence for association of premutation or gray zone alleles with ET. These data suggest that FMR1 CGG repeats are not a genetic risk factor for ET.

Original language	English (US)
Pages (from-to)	114-117
Number of pages	4
Journal	Neuroscience letters
Volume	593
DOIs	https://doi.org/10.1016/j.neulet.2015.03.027
State	Published - Apr 3 2015
Externally published	Yes

Keywords

Essential tremor
FMR1
Fragile X
Genetics
Gray zone alleles
Premutation alleles

ASJC Scopus subject areas

General Neuroscience

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10.1016/j.neulet.2015.03.027

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title = "Genetic analysis of FMR1 repeat expansion in essential tremor",

abstract = "We performed an association analysis of Fragile X mental retardation 1 (FMR1) CGG repeats in 321 essential tremor (ET) cases and 296 controls at Columbia University. In addition to analyzing the allele distribution (10-49 CGG repeats) in the entire sample, we also performed a screen for ET cases with the FMR1 premutation allele (55-200 CGG repeats), and evaluated an association between ET and FMR1 alleles that included gray zone alleles (41-54 CGG repeats). CGG premutation alleles and gray zone alleles were rare in ET cases, and we found no evidence for association of premutation or gray zone alleles with ET. These data suggest that FMR1 CGG repeats are not a genetic risk factor for ET.",

keywords = "Essential tremor, FMR1, Fragile X, Genetics, Gray zone alleles, Premutation alleles",

author = "Clark, {L. N.} and X. Ye and X. Liu and Louis, {E. D.}",

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doi = "10.1016/j.neulet.2015.03.027",

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T1 - Genetic analysis of FMR1 repeat expansion in essential tremor

AU - Clark, L. N.

AU - Ye, X.

AU - Liu, X.

AU - Louis, E. D.

PY - 2015/4/3

Y1 - 2015/4/3

N2 - We performed an association analysis of Fragile X mental retardation 1 (FMR1) CGG repeats in 321 essential tremor (ET) cases and 296 controls at Columbia University. In addition to analyzing the allele distribution (10-49 CGG repeats) in the entire sample, we also performed a screen for ET cases with the FMR1 premutation allele (55-200 CGG repeats), and evaluated an association between ET and FMR1 alleles that included gray zone alleles (41-54 CGG repeats). CGG premutation alleles and gray zone alleles were rare in ET cases, and we found no evidence for association of premutation or gray zone alleles with ET. These data suggest that FMR1 CGG repeats are not a genetic risk factor for ET.

AB - We performed an association analysis of Fragile X mental retardation 1 (FMR1) CGG repeats in 321 essential tremor (ET) cases and 296 controls at Columbia University. In addition to analyzing the allele distribution (10-49 CGG repeats) in the entire sample, we also performed a screen for ET cases with the FMR1 premutation allele (55-200 CGG repeats), and evaluated an association between ET and FMR1 alleles that included gray zone alleles (41-54 CGG repeats). CGG premutation alleles and gray zone alleles were rare in ET cases, and we found no evidence for association of premutation or gray zone alleles with ET. These data suggest that FMR1 CGG repeats are not a genetic risk factor for ET.

KW - Essential tremor

KW - FMR1

KW - Fragile X

KW - Genetics

KW - Gray zone alleles

KW - Premutation alleles

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JO - Neuroscience letters

JF - Neuroscience letters

ER -

Genetic analysis of FMR1 repeat expansion in essential tremor

Abstract

Keywords

ASJC Scopus subject areas

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