4p16.3 haplotype modifying age at onset of Huntington disease

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Standard

4p16.3 haplotype modifying age at onset of Huntington disease. / Nørremølle, A; Budtz-Jørgensen, E; Fenger, K; Nielsen, Jørgen Erik; Sørensen, S A; Hasholt, L.

I: Clinical Genetics, Bind 75, Nr. 3, 2009, s. 244-50.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Nørremølle, A, Budtz-Jørgensen, E, Fenger, K, Nielsen, JE, Sørensen, SA & Hasholt, L 2009, '4p16.3 haplotype modifying age at onset of Huntington disease', Clinical Genetics, bind 75, nr. 3, s. 244-50. https://doi.org/10.1111/j.1399-0004.2008.01136.x

APA

Nørremølle, A., Budtz-Jørgensen, E., Fenger, K., Nielsen, J. E., Sørensen, S. A., & Hasholt, L. (2009). 4p16.3 haplotype modifying age at onset of Huntington disease. Clinical Genetics, 75(3), 244-50. https://doi.org/10.1111/j.1399-0004.2008.01136.x

Vancouver

Nørremølle A, Budtz-Jørgensen E, Fenger K, Nielsen JE, Sørensen SA, Hasholt L. 4p16.3 haplotype modifying age at onset of Huntington disease. Clinical Genetics. 2009;75(3):244-50. https://doi.org/10.1111/j.1399-0004.2008.01136.x

Author

Nørremølle, A ; Budtz-Jørgensen, E ; Fenger, K ; Nielsen, Jørgen Erik ; Sørensen, S A ; Hasholt, L. / 4p16.3 haplotype modifying age at onset of Huntington disease. I: Clinical Genetics. 2009 ; Bind 75, Nr. 3. s. 244-50.

Bibtex

@article{77d493406a0e11de8bc9000ea68e967b,
title = "4p16.3 haplotype modifying age at onset of Huntington disease",
abstract = "Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset.",
author = "A N{\o}rrem{\o}lle and E Budtz-J{\o}rgensen and K Fenger and Nielsen, {J{\o}rgen Erik} and S{\o}rensen, {S A} and L Hasholt",
note = "Keywords: Age of Onset; Chromosomes, Human, Pair 4; Haplotypes; Humans; Huntington Disease; Polymorphism, Genetic; Trinucleotide Repeats",
year = "2009",
doi = "10.1111/j.1399-0004.2008.01136.x",
language = "English",
volume = "75",
pages = "244--50",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "3",

}

RIS

TY - JOUR

T1 - 4p16.3 haplotype modifying age at onset of Huntington disease

AU - Nørremølle, A

AU - Budtz-Jørgensen, E

AU - Fenger, K

AU - Nielsen, Jørgen Erik

AU - Sørensen, S A

AU - Hasholt, L

N1 - Keywords: Age of Onset; Chromosomes, Human, Pair 4; Haplotypes; Humans; Huntington Disease; Polymorphism, Genetic; Trinucleotide Repeats

PY - 2009

Y1 - 2009

N2 - Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset.

AB - Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset.

U2 - 10.1111/j.1399-0004.2008.01136.x

DO - 10.1111/j.1399-0004.2008.01136.x

M3 - Journal article

C2 - 19250382

VL - 75

SP - 244

EP - 250

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 3

ER -

ID: 13012643