BAK1 gene variation and abdominal aortic aneurysms

Bruce Gottlieb, Lorraine E. Chalifour, Benjamin Mitmaker, Nathan Sheiner, Daniel Obrand, Cherrie Abraham, Melissa Meilleur, Tomoko Sugahara, Ghassan Bkaily, Morris Schweitzer

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

We sought to examine the role of genetics in the multifactorial disease, abdominal aortic aneurysm (AAA), by studying sequence variation in the BAK1 gene (BAK1) that codes for an apoptotic-promoting protein, as chronic apoptosis activation has been linked to AAA development and progression. BAK1 abdominal aorta cDNA from AAA patients and nondiseased individuals were compared with each other, as well as to the BAK1 genomic sequence obtained from matching blood samples. We found specific BAK1 single nucleotide polymorphism (SNP) containing alleles in both aneurysmic (31 cases) and healthy aortic tissue (5 cases) without seeing them in the matching blood samples. These same BAK1 SNPs have been reported, although rarely (average frequency

Original languageEnglish (US)
Pages (from-to)1043-1047
Number of pages5
JournalHuman Mutation
Volume30
Issue number7
DOIs
StatePublished - Jul 2009
Externally publishedYes

Fingerprint

Abdominal Aortic Aneurysm
Single Nucleotide Polymorphism
Genes
Abdominal Aorta
Complementary DNA
Alleles
Apoptosis
Proteins

Keywords

  • Abdominal aortic aneurysm
  • BAK1
  • Intercellular gene variation
  • Tissue specific gene alterations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Gottlieb, B., Chalifour, L. E., Mitmaker, B., Sheiner, N., Obrand, D., Abraham, C., ... Schweitzer, M. (2009). BAK1 gene variation and abdominal aortic aneurysms. Human Mutation, 30(7), 1043-1047. https://doi.org/10.1002/humu.21046

BAK1 gene variation and abdominal aortic aneurysms. / Gottlieb, Bruce; Chalifour, Lorraine E.; Mitmaker, Benjamin; Sheiner, Nathan; Obrand, Daniel; Abraham, Cherrie; Meilleur, Melissa; Sugahara, Tomoko; Bkaily, Ghassan; Schweitzer, Morris.

In: Human Mutation, Vol. 30, No. 7, 07.2009, p. 1043-1047.

Research output: Contribution to journalArticle

Gottlieb, B, Chalifour, LE, Mitmaker, B, Sheiner, N, Obrand, D, Abraham, C, Meilleur, M, Sugahara, T, Bkaily, G & Schweitzer, M 2009, 'BAK1 gene variation and abdominal aortic aneurysms', Human Mutation, vol. 30, no. 7, pp. 1043-1047. https://doi.org/10.1002/humu.21046
Gottlieb B, Chalifour LE, Mitmaker B, Sheiner N, Obrand D, Abraham C et al. BAK1 gene variation and abdominal aortic aneurysms. Human Mutation. 2009 Jul;30(7):1043-1047. https://doi.org/10.1002/humu.21046
Gottlieb, Bruce ; Chalifour, Lorraine E. ; Mitmaker, Benjamin ; Sheiner, Nathan ; Obrand, Daniel ; Abraham, Cherrie ; Meilleur, Melissa ; Sugahara, Tomoko ; Bkaily, Ghassan ; Schweitzer, Morris. / BAK1 gene variation and abdominal aortic aneurysms. In: Human Mutation. 2009 ; Vol. 30, No. 7. pp. 1043-1047.
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