Association of ANRIL polymorphism (rs1333049:C&gt;G) with myocardial infarction and its pharmacogenomic role in hypercholesterolemia

Ahmed, Waqas; Ali, Imran Saeed; Riaz, Moeen; Younas, Asma; Sadeque, Ahmed; Niazi, Asfandyar Khan; Niazi, Saad Hameed; Ali, Sajid; Azam, Maleeha; Qamar, Raheel

doi:10.1016/j.gene.2012.12.044

Cited by 32 publications

(33 citation statements)

References 22 publications

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“…ncRNAs have roles in XCI, imprinting, polycomb repressive complex recruitment, and as discussed earlier, cardiomyogenesis and MI/HF (van Rooij et al, 2006;Ishii et al, 2006;Ikeda et al, 2007;Zaratiegui et al, 2007;Sucharov et al, 2008;Wang et al, 2010;Hoekstra et al, 2010;Sondermeijer et al, 2011;Papait et al, 2013;Ahmed et al, 2013;Jaguszewski et al, 2014;Kumarswamy et al, 2014;Matkovich et al, 2014). A number of studies have established lncRNA and miRNA expression to occur in a developmentalspecific manner including numerous ncRNAs uniquely expressed or upregulated in CM differentiation (Fu et al, 2011;Klattenhoff et al, 2013;Matkovich et al, 2014;Zhu et al, 2014).…”

Section: Epigenetics Of Pluripotent-cm Differentiationmentioning

confidence: 93%

“…To date, only a handful of studies have directly considered lncRNAs and MI/ HF, but given tissue-specific expression of these RNAs Klattenhoff et al, 2013) and associations of specific lncRNAs expression levels or polymorphisms with MI (Ishii et al, 2006;Ahmed et al, 2013;Papait et al, 2013;Kumarswamy et al, 2014;Matkovich et al, 2014), it is expected that confirmed lncRNA contributions to cardiac remodeling will significantly increase. Indeed, Han et al very recently investigated a lncRNA cluster, Myheart, which is transcribed antisense from the myosin heavy chain (Myh7) promoter, operates by antagonizing Brg1/BAF-Hdac-Parp stress induced chromatin repressive activity, and ultimately provides a cardioprotective effect from pathological hypertrophy .…”

Section: Lncrnas and Mirnas In Hfmentioning

confidence: 99%

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An epigenetic perspective on the failing heart and pluripotent-derived-cardiomyocytes for cell replacement therapy

Tompkins

Riggs

2014

Front. Biol.

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As life expectancy rises, the prevalence of heart failure is steadily increasing, while donors for organ transplantation remain in short supply (Zwi-Dantsis and Gepstein, 2012). Indeed, myocardial infarction represents the foremost cause of death within industrialized nations (Henning, 2011) and further, approximately 1% of all newborns harbor a congenital heart defect. Although medical interventions allow > 80% of those with cardiac defects to survive to adulthood, there are often extreme emotional and financial burdens that accompany such congenital anomalies, and many individuals will remain at a heightened risk for myocardial infarction throughout the remainder of their lives (Verheugt et al., 2010;Amianto et al., 2011). In this review, we will discuss the nature of the failing heart and strategies for repair from an epigenetic standpoint. Significant focus will reside on pluripotent-to-cardiomyocyte differentiation for cell replacement, epigenetic mechanisms of cardiomyocyte differentiation, epigenetic "memories," and epigenetic control of cardiomyocyte cell fate toward translational utility.

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Section: Epigenetics Of Pluripotent-cm Differentiationmentioning

confidence: 93%

Section: Lncrnas and Mirnas In Hfmentioning

confidence: 99%

An epigenetic perspective on the failing heart and pluripotent-derived-cardiomyocytes for cell replacement therapy

Tompkins

Riggs

2014

Front. Biol.

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“…In combination with Polycomb Repressing Complexes 1 and 2 (PRC1 and 2), ANRIL negatively regulates the transcription of the entire INK4‐ARF locus (including p15 , p14ARF , and p16 genes), thus simultaneously modulating both the p53 and pRb pathways (Figure ) . Emerging evidence has shown that a number of single nucleotide polymorphisms (SNPs) in ANRIL are associated with susceptibility to different types of cancer and some degenerative diseases (such as type‐2 diabetes and atherosclerosis) …”

Section: Introductionmentioning

confidence: 99%

Polymorphism in ANRIL is associated with relapse in patients with multiple myeloma after autologous stem cell transplant

Poi

Sborov

VanGundy

et al. 2017

Molecular Carcinogenesis

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Multiple myeloma (MM) is a hematologic malignancy characterized by clonal proliferation of plasma cells and overproduction of monoclonal immunoglobins. Treatment with melphalan is currently standard of care for younger and fit patients when followed by hematopoietic stem cell transplantation (HSCT), and in transplant ineligible patients when used in combination regimens. It has been previously shown that changes in the p53 pathway are associated with melphalan efficacy, but the regulatory role of the p14ARF-MDM2-p53 axis has yet to be fully explored. Recently, a non-coding RNA, ANRIL (antisense non-coding RNA in the INK4-ARF locus) has been shown to negatively regulate the transcription of the entire INK4-ARF locus and simultaneously modulate the p53 and pRb pathways. Moreover, some single nucleotide polymorphisms (SNPs) in ANRIL have previously been associated with susceptibility to several malignancies. Here we investigated select ANRIL SNPs in DNA from patient-derived peripheral blood mononuclear cells obtained from 108 MM patients treated with high-dose melphalan followed by HSCT. Our results show that the rs2151280 (CàT) SNP in ANRIL was associated with worse progression-free survival (TC/CC vs TT: HR = 0.53, 95%CI, [0.26, 1.07], P = 0.07; adjusted HR = 0.39, 95%CI, [0.18, 0.84], P = 0.016), and the TT variant had higher ANRIL expression and lower p15, p14ARF, and p16 expression compared to the TC/CC variants. Our results indicate that ANRIL may be involved in melphalan-mediated apoptosis via down-regulating p14ARF and subsequent p53, and that the rs2151280 polymorphism may be a potential prognostic biomarker for relapse in melphalan-treated MM patients.

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“…Therefore, variants on lncRNA promoter and exon regions deserve our attention in studying disease susceptibility. To date, studies of the 9p21.3 variants on CAD risk mainly focus on the non-coding region of ANRIL , such as SNP rs1333049, rs10757274, rs2383206 and so on [9, 20, 22]. However, the effect of variants in ANRIL promoter and exon regions on MI risk is still unknown.…”

Section: Introductionmentioning

confidence: 99%

Variants in ANRIL gene correlated with its expression contribute to myocardial infarction risk

et al. 2017

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ANRIL (antisense non-coding RNA in the INK4 locus), located at the 9p21.3 locus, has been known to be closely associated with the risk of coronary artery disease (CAD). To date, studies of the 9p21.3 variants on CAD risk mainly focus on the non-coding region of ANRIL. However, the biological significance of the variants on ANRIL promoter and exons is still unknown. Here we investigate whether the variants on ANRIL promoter and exons have an effect on myocardial infarction (MI) risk, and further analyze the association of these variants with the expression of ANRIL transcript. We did not find any common variants with minor allele frequencies (MAF) larger than 5% in ANRIL promoter by sequencing 1.6kb upstream of the start codon. Unconditional logistic regression analysis revealed that two SNPs in ANRIL exons, rs10965215 and rs10738605, were significantly associated with MI risk. Further studies revealed that ANRIL transcript EU741058.1 expression levels of rs10965215 and rs10738605 risk genotypes were borderline lower than those of protective genotypes. Our data provide the evidence that the variants rs10965215 and rs10738605 in ANRIL exons contribute to MI risk in the Chinese Han population which might be correlated with the expression of its transcript EU741058.1.

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Association of ANRIL polymorphism (rs1333049:C>G) with myocardial infarction and its pharmacogenomic role in hypercholesterolemia

Cited by 32 publications

References 22 publications

An epigenetic perspective on the failing heart and pluripotent-derived-cardiomyocytes for cell replacement therapy

An epigenetic perspective on the failing heart and pluripotent-derived-cardiomyocytes for cell replacement therapy

Polymorphism in ANRIL is associated with relapse in patients with multiple myeloma after autologous stem cell transplant

Variants in ANRIL gene correlated with its expression contribute to myocardial infarction risk

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