Bax gene G(-248)A promoter polymorphism is associated with increased lifespan of the neutrophils of patients with osteomyelitis

Ocaña, Marcos G.; Valle-Garay, Eulalia; Montes, A. Hugo; Meana, Álvaro; Cartón, José A.; Fierer, Joshua; Celada, Antonio; Asensi, Vı́ctor

doi:10.1097/gim.0b013e318039b23d

Cited by 22 publications

(22 citation statements)

References 49 publications

(48 reference statements)

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“…The BAX gene has been mapped to chromosome 19q13.3. A SNP located within the 5 0 untranslated region of the BAX promoter, -248G[A (rs4645878), has been described, and the A allele was reported to be associated with both reduced expression of BAX protein [14] and altered susceptibility to chronic lymphocytic leukemia [15][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Polymorphism in apoptotic BAX (-248G>A) gene but not in anti-apoptotic BCL2 (-938C>A) gene and its protein and mRNA expression are associated with cervical intraepithelial neoplasia

et al. 2015

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HPV is associated with cervical cancer and plays a crucial role in tumor formation. Apoptosis is regulated by different pathways involving genes that either promote (BCL2 gene) or inhibit (BAX gene) cell death. Our goal was to determine whether the BCL2-938C>A (rs2279115) and BAX-248G>A (rs4645878) single nucleotide polymorphisms (SNPs) are associated with squamous intraepithelial neoplasia (SIL) risk, and whether their phenotypic expression was impaired in these lesions. Two hundred and thirty-one cases showing SIL were classified as low SIL (LSIL, n = 101) or high SIL (HSIL, n = 130), and control subjects (n = 266) with no gynecologically proven SIL were recruited. No statistical difference in the genotype and allelic frequency of the BCL-2-938C>A polymorphism was observed among the groups. BCL2-938C/A and A/A homozygotes carriers had higher distribution of BCL-2-expressing cells in stroma in the SIL group. BCL2 mRNA-expression was not correlated with BCL2-938C>A SNPs in both groups. We did find a strong association of the BAX GG genotype and risk for SIL. No difference was observed between LSIL and HSIL groups. In BAX-248G/A and A/A homozygote carriers, the number of BAX-expressing cells was lower the epithelium area in SIL. However, mRNA expression was higher in SIL patients than in the control group. In conclusion, our data provide evidence that allele G carriers in the BAX-248G>A promoter SNP may influence the development of SIL. However, this genotype does not influence the SIL outcome. Additionally, we suggest a possible role of HPV infection in the inhibition of the expression of BAX protein, decreasing cell death, and favoring cervical carcinogenesis.

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Section: Introductionmentioning

confidence: 99%

Polymorphism in apoptotic BAX (-248G>A) gene but not in anti-apoptotic BCL2 (-938C>A) gene and its protein and mRNA expression are associated with cervical intraepithelial neoplasia

et al. 2015

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“…Die Autoren konnten in ihren Untersuchungen erstmalig den Zusammenhang zwischen TLR-4-Polymorphismus und Anfälligkeit für gramnegative hämatogene Osteomyelitiden nachweisen. Im Jahr 2007 berichteten Ocaña et al [13], dass die Substitution eines Nukleotids (G:A) in Position 248 im sog. "bax gene" bei Patienten mit Osteomyelitis gehäuft auftritt.…”

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“…"bax gene" bei Patienten mit Osteomyelitis gehäuft auftritt. Gleichzeitig beschrieben sie eine verlängerte Lebensdauer der neutrophilen Zellen im peripheren Blut bei analog geringerer PAX-Protein-Expression [13]. Sie vermuteten diesbezüglich einen Zusammenhang mit der Entstehung von Osteomyelitiden.…”

Section: Diskussionunclassified

Immunologische Risikostratifizierung bei Osteitistherapie

Tiemann

Langwald

Heyne

et al. 2012

Trauma Berufskrankh

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“…In fact, carriers of the A allele of the G(-248)A polymorphism of the promoter region of the BAX gene were more frequent among osteomyelitis patients compared to healthy donors, and the apoptosis of neutrophils of carriers of this variant A allele was delayed compared to carriers of the wild type GG genotype of this polymorphism [42]. …”

Section: Genetic Aspects and Apoptosis Of The Neutrophilsmentioning

confidence: 99%

“…Different reports have shown that the G(-248)A polymorphism of the promoter of the BAX gene delayed cellular apoptosis of leukemic cells [40,41], and this polymorphism could also influence the lifespan of peripheral blood neutrophils of patients with osteomyelitis [42].…”

Section: Genetic Aspects and Apoptosis Of The Neutrophilsmentioning

confidence: 99%

Role of Neutrophils Apoptosis in Osteomyelitis Pathogenesis

Asensi¹,

Collazos²,

Valle-Garay³

2017

Clin Microbiol

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EditorialOsteomyelitis is a bone infection characterized by progressive inflammatory destruction of the infected bone and new apposition of bone at the site of infection. In adults, osteomyelitis is usually a complication of open wounds due to fractures, surgery, or both, with or without the presence of foreign bodies such as prosthetic devices. In fact, it is estimated that about 0.4 to 7% of trauma and orthopaedic interventions are complicated by osteomyelitis [1][2][3][4][5][6].Bone infections can also be the result of bacteraemia, mostly in children and in elderly patients, in whom the infection involves mainly the axial skeleton. The microorganism most frequently isolated in both post-traumatic and haematogenous cases is Staphylococcus aureus.Osteomyelitis constitutes a difficult-to-treat infection, with high rates of recurrence of about 20-30% despite appropriate medical and surgical therapies, causing significant morbidity and mortality [7][8][9][10][11][12][13].Much attention has been dedicated to improving the medical and surgical treatments of osteomyelitis, but little progress has been made toward understanding its pathogenesis. It is clear that it is multifactorial and influenced mainly by local factors related to the bone lesion and microorganisms inoculated into the bone, but inherited factors and cell immunity dysfunctions could play some role as well [14][15][16][17][18][19][20][21][22][23][24][25][26].

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Bax gene G(-248)A promoter polymorphism is associated with increased lifespan of the neutrophils of patients with osteomyelitis

Cited by 22 publications

References 49 publications

Polymorphism in apoptotic BAX (-248G>A) gene but not in anti-apoptotic BCL2 (-938C>A) gene and its protein and mRNA expression are associated with cervical intraepithelial neoplasia

Polymorphism in apoptotic BAX (-248G>A) gene but not in anti-apoptotic BCL2 (-938C>A) gene and its protein and mRNA expression are associated with cervical intraepithelial neoplasia

Immunologische Risikostratifizierung bei Osteitistherapie

Role of Neutrophils Apoptosis in Osteomyelitis Pathogenesis

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