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The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

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Abstract
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype epsilon 3/epsilon 3 or epsilon 3/epsilon 4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with sporadic inclusion body myositis (sIBM) compared with controls and associated with a later age of sIBM symptom onset, suggesting a protective effect of this haplotype. To further investigate the influence of these genetic factors in sIBM, we analyzed a large sIBM cohort of 158 cases as part of an International sIBM Genetics Study. No significant association was found between APOE or TOMM40 genotypes and the risk of developing sIBM. We found that the presence of at least 1 VL polyT repeat allele in TOMM40 was significantly associated with about 4 years later onset of sIBM symptoms. The age of onset was delayed by 5 years when the patients were also carriers of the APOE genotype epsilon 3/epsilon 3. In addition, males were likely to have a later age of onset than females. Therefore, the TOMM40 VL polyT repeat, although not influencing disease susceptibility, has a disease-modifying effect on sIBM, which can be enhanced by the APOE genotype epsilon 3/epsilon 3.
Keywords
sIBM, Sporadic inclusion body myositis, APOE, TOMM40, Age of onset, ONSET, AGE

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MLA
Gang, Qiang et al. “The Effects of an Intronic Polymorphism in TOMM40 and APOE Genotypes in Sporadic Inclusion Body Myositis.” NEUROBIOLOGY OF AGING 36.4 (2015): n. pag. Print.
APA
Gang, Q., Bettencourt, C., Machado, P. M., Fox, Z., Brady, S., Healy, E., Parton, M., et al. (2015). The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. NEUROBIOLOGY OF AGING, 36(4).
Chicago author-date
Gang, Qiang, Conceicao Bettencourt, Pedro M Machado, Zoe Fox, Stefen Brady, Estelle Healy, Matt Parton, et al. 2015. “The Effects of an Intronic Polymorphism in TOMM40 and APOE Genotypes in Sporadic Inclusion Body Myositis.” Neurobiology of Aging 36 (4).
Chicago author-date (all authors)
Gang, Qiang, Conceicao Bettencourt, Pedro M Machado, Zoe Fox, Stefen Brady, Estelle Healy, Matt Parton, Janice L Holton, David Hilton-Jones, Perry B Shieh, Edmar Zanoteli, Boel De Paepe, Jan De Bleecker, Aziz Shaibani, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Richard J Barohn, Mazen M Dimachkie, Marina Mora, Renato Mantegazza, Simona Zanotti, Michael G Hanna, and Henry Houlden. 2015. “The Effects of an Intronic Polymorphism in TOMM40 and APOE Genotypes in Sporadic Inclusion Body Myositis.” Neurobiology of Aging 36 (4).
Vancouver
1.
Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, et al. The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. NEUROBIOLOGY OF AGING. 2015;36(4).
IEEE
[1]
Q. Gang et al., “The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis,” NEUROBIOLOGY OF AGING, vol. 36, no. 4, 2015.
@article{6854539,
  abstract     = {A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype epsilon 3/epsilon 3 or epsilon 3/epsilon 4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with sporadic inclusion body myositis (sIBM) compared with controls and associated with a later age of sIBM symptom onset, suggesting a protective effect of this haplotype. To further investigate the influence of these genetic factors in sIBM, we analyzed a large sIBM cohort of 158 cases as part of an International sIBM Genetics Study. No significant association was found between APOE or TOMM40 genotypes and the risk of developing sIBM. We found that the presence of at least 1 VL polyT repeat allele in TOMM40 was significantly associated with about 4 years later onset of sIBM symptoms. The age of onset was delayed by 5 years when the patients were also carriers of the APOE genotype epsilon 3/epsilon 3. In addition, males were likely to have a later age of onset than females. Therefore, the TOMM40 VL polyT repeat, although not influencing disease susceptibility, has a disease-modifying effect on sIBM, which can be enhanced by the APOE genotype epsilon 3/epsilon 3.},
  articleno    = {1766.e1},
  author       = {Gang, Qiang and Bettencourt, Conceicao and Machado, Pedro M and Fox, Zoe and Brady, Stefen and Healy, Estelle and Parton, Matt and Holton, Janice L and Hilton-Jones, David and Shieh, Perry B and Zanoteli, Edmar and De Paepe, Boel and De Bleecker, Jan and Shaibani, Aziz and Ripolone, Michela and Violano, Raffaella and Moggio, Maurizio and Barohn, Richard J and Dimachkie, Mazen M and Mora, Marina and Mantegazza, Renato and Zanotti, Simona and Hanna, Michael G and Houlden, Henry},
  issn         = {0197-4580},
  journal      = {NEUROBIOLOGY OF AGING},
  keywords     = {sIBM,Sporadic inclusion body myositis,APOE,TOMM40,Age of onset,ONSET,AGE},
  language     = {eng},
  number       = {4},
  pages        = {3},
  title        = {The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis},
  url          = {http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039},
  volume       = {36},
  year         = {2015},
}

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