Investigation of OPG/RANK/RANKL Genes as a Genetic Marker for Cardiac abnormalities in Thalassemia Major Patients

Singh, Mable Misha; Kumar, Ravindra; Tewari, Satyendra; Agarwal, Sarita

doi:10.1111/ahg.12189

Cited by 6 publications

(4 citation statements)

References 43 publications

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“…Following our findings, many studies demonstrated the relation of different polymorphisms of this axis with cardiac diseases ; Singh et al study determined that thalassemia patients having RANK rs75404003 (C > DEL), OPG rs2073618 (G > C), and minor C allele of OPG rs2073618, were at high risk for developing left ventricular hypertrophy 25 . A meta-analysis done by Song et al in 2016 showed that the OPG rs2073618 genotype is related to cardiovascular disorders such as left ventricle hypertrophy, carotid plaques, and increased risk of stroke 26 .…”

Section: Discussionsupporting

confidence: 77%

OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia

Sayed

El-Hafez

El-ela

et al. 2023

Sci Rep

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OPG/RANK/RANKL axis was reportedly involved in initiating various diseases, especially bone and cardiovascular diseases. This study aimed to assess the relationship between some OPG, RANK, and RANKL polymorphisms and alleles and iron-overload-induced cardiomyopathy in children with transfusion-dependent thalassemia (TDT). This study included 80 TDT children and 80 age and sex-matched controls. Real-time PCR was done for rs207318 polymorphism for the OPG gene and rs1805034, rs1245811, and rs75404003 polymorphisms for the RANK gene, and rs9594782 and rs2277438 polymorphisms for the RANKL gene. Cardiac T2* MRI and ejection fraction (EF) were done to assess the myocardial iron status and cardiac function. In this study, there were no significant differences in frequencies of the studied polymorphisms between cases and controls (p > 0.05 in all). In TDT children, OPG rs2073618 (G > C) had a significant relation to myocardial iron overload (p = 0.02). Its C allele had significantly more frequent normal EF than its G allele (p = 0.04). RANK rs75404403 (C > DEL) had a significant relation to cardiac dysfunction (p = 0.02). Moreover, the C allele of that gene had significantly more frequent affected EF than its DEL allele (p = 0.02). The A allele of RANKL rs2277438 (G > A) had significantly less frequent severe cardiac iron overload than the G allele (p = 0.04). In conclusion, the OPG/ RANK/RANKL genes may act as genetic markers for iron-induced cardiomyopathy in TDT children. Some of the studied genes’ polymorphisms and alleles were significantly related to myocardial iron overload and cardiac dysfunction in TDT children.

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Section: Discussionsupporting

confidence: 77%

OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia

Sayed

El-Hafez

El-ela

et al. 2023

Sci Rep

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“…The study also found a statistically significant negative correlation between osteoprotgrin and hemoglobin and vitamin D-3 [23].…”

Section: Discussionmentioning

confidence: 54%

Estimation of Osteoprotgrin Level in B Thalassemia Children

Abd Elhameed Ibrahim,

Dabour,

Khashaba

et al. 2023

Benha Medical Journal

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“…The TNFSF11 gene structure is highly conserved among mammals, consisting of five exons that span 33.9 kb in humans (10). SNPs located near TNFSF11, TNFRSF11A, and TNFRSF11B have been reported to be closely associated with Paget's disease (20), osteoporotic fractures (21), cardiovascular diseases (22), ankylosing spondylitis (11), and breast (23), and esophageal cancers (24). In this study, we showed that subjects who carried the rs9525641-C allele were more likely to develop HCV chronicity than those with the rs9525641-T allele.…”

Section: Discussionmentioning

confidence: 99%

Genetic Mutations in TNFSF11 Were Associated With the Chronicity of Hepatitis C Among Chinese Han Population

Huang

Hou

et al. 2021

Front. Med.

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Background: Recently, several studies have reported that the host immune response can be related to the RANKL/RANK/OPG signaling pathway. However, the associations of TNFSF11, TNFRSF11A, and TNFRSF11B gene polymorphisms in the RANKL/RANK/OPG pathway with hepatitis C virus (HCV) infection outcomes remain unclear.Methods: In this case-control study, 768 persistent HCV infection and 503 spontaneous HCV clearance cases, and 1,259 control subjects were included. The Taman-MGB probe method was utilized to detect TNFSF11 rs9525641, TNFRSF11A rs8686340, and TNFRSF11B rs2073618 genotypes. The distribution of three single nucleotide polymorphisms (SNPs) genotypes was analyzed using stata14.0.Results: SNPs rs9525641, rs8086340, and rs2073618 genotype frequencies followed the Hardy-Weinberg natural population equilibrium (p = 0.637, 0.250, and 0.113, respectively). Also, rs9525641 was significantly associated with HCV chronicity risk in recessive (OR = 1.203, 95% CI: 1.018–1.420, p = 0.030) and additive models (OR = 1.545, 95% CI: 1.150–2.075, p = 0.004). The stratified analysis showed that rs9525641 variant genotypes were associated with HCV chronicity among people older than 50 years (OR =1.562, 95% CI: 1.079–2.262, p = 0.018), females (OR = 1.667, 95% CI: 1.145–2.429, p = 0.008), ALT <40 U/L (OR = 1.532, 95% CI: 1.074–2.286, p = 0.018), and AST < 40 U/L (OR = 1.552, 95% CI: 1.095–2.201, p = 0.014).Conclusion:TNFRSF11 rs9525641 was significantly associated with HCV chronicity in the Chinese population.

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Investigation of OPG/RANK/RANKL Genes as a Genetic Marker for Cardiac abnormalities in Thalassemia Major Patients

Abstract: OPG rs2073618, RANK rs75404003, and RANKL rs9594782 SNPs may predispose LVH in thalassemia patients. Patients with diastolic dysfunction showed increased levels of serum OPG.

Cited by 6 publications

References 43 publications

OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia

OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia

Estimation of Osteoprotgrin Level in B Thalassemia Children

Genetic Mutations in TNFSF11 Were Associated With the Chronicity of Hepatitis C Among Chinese Han Population

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