Renalase gene polymorphisms (rs2576178 and rs10887800) in Egyptian hypertensive end stage renal disease patients

Kandil, Noha Said; Sharkawy, Rania Mohamed El; Desouky, Lubna M.; Masoud, Inas M.; Amin, Noha Gaber

doi:10.1016/j.ejmhg.2018.02.004

Cited by 8 publications

(10 citation statements)

References 16 publications

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“…Among all potentially applicable records only 43 focused on the subject by title and abstract. These papers were screened and divided into three areas: renalase enzymatic activity (16 records), 1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17 renalase polymorphisms (16 records) [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] and renalase non-enzymatic activity (11 records). [34][35][36][37][38][39][40][41][42][43][44]…”

Section: Me Thodsmentioning

confidence: 99%

“…24 In contrast, Chinese cohort study failed to demonstrate such an association. 25 Other renalase gene polymorphisms included in scientific research are SNP rs2576178 and SNP rs10887800. In rs2576178, polymorphism adenine is replaced by guanine in the 5′-flanking region of the gene, which may possibly affect the binding of transcription factors.…”

Section: Renalase -Polymorphysmsmentioning

confidence: 99%

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Renalase—A new understanding of its enzymatic and non‐enzymatic activity and its implications for future research

Czerwińska

Poręba

Gać

2021

Clin Exp Pharma Physio

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Renalase was first described in 2005 by the research team of Gary V.Desir who aimed to find additional proteins that may be involved in endocrine function of the kidneys. 1 To do so, the scientists searched the Mammalian Gene Collection (MCG) for genes that: encode proteins, have <20% sequence similarity to known proteins, contain a signal peptide sequence and do not contain transmembrane domains. Their initial search identified 114 candidate genes encoding novel secretory proteins; however, in further Northern blot analysis only one of them was preferably expressed in human kidney.The cDNA of this gene was then applied to the Human Genome Project database, identified to residue on chromosome 10 at q23.33 and named renalase. 1 Further analysis of the gene showed that it encompasses ~309,469 base pairs (bp), has 10 exons and at least four alternatively spliced isoforms with renalase1 being the most highly expressed. 2 The protein encoded by renalase1 is the most abundant one in the human body and can be detected in plasma, kidney, heart, skeletal muscle and liver. 2 The fact that it incorporates three main functional domains (i.e., a signal peptide, a flavin adenine dinucleotide (FAD)-binding region and an amine oxidase domain) (Figure 1) became the basis for its classification as a novel flavin adenine dinucleotide-dependent amine oxidase. 1,2 The main representatives of this group are monoamine oxidases A and B (MAO-A and MAO-B), both known to catalyse the intracellular oxidation of monoamine neurotransmitters, such as dopamine, serotonin, epinephrine and norepinephrine. 3 This prompted scientists to hypothesize that renalase is a sister enzyme to MAO-A and MAO-B and is also engaged into the oxidation of neurotransmitters, but unlike aforementioned enzymes it is secreted into plasma and acts

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Section: Me Thodsmentioning

confidence: 99%

Section: Renalase -Polymorphysmsmentioning

confidence: 99%

Renalase—A new understanding of its enzymatic and non‐enzymatic activity and its implications for future research

Czerwińska

Poręba

Gać

2021

Clin Exp Pharma Physio

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“…Genotyping of renalase polymorphisms (rs10887800, rs2576178 and rs2296545) were performed by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) as described earlier by various groups [16,17]. Different primers pairs were used for ampli cation of genetic fragment anking respective mutant positions-rs2576178: F-5'-CAGGAAAGAAAGAGTTGACAT-3', R-5'-AAGTTGTTCCAGCTACTGT-3'; rs10887800: F-5'-AGCAGAGAAGCAGCTTAACCT-3', R-5'-TTATCTGCAAGTCAGCGTAAC-3'; rs2296545: F-5'-GGAAGTCCCC GATCACGTGAC-3', R-5'-TGCTGTGTGGGACAAGGCTGA-3'.…”

Section: Genotyping Of Renalase (Rs10887800 Rs2576178 and Rs2296545)mentioning

confidence: 99%

Renalase levels and genetic variants are associated with preeclampsia: a hospital based study in Chinese cohort

Li¹,

Huang²,

2020

Preprint

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Background Pre-eclampsia (PE) is a major contributor of maternal and fetal morbidity and mortality. There are many host related biomolecules that regulate the pathophysiology PE. Critical analysis of these parameters is of crucial importance as some of these may be used as prognostic/diagnostic marker of this serious ailment and can be targeted for developing therapeutic measures against the disease. The aim of the current study is to examine the role of renalse in the context PE in a Chinese cohort. Methods A hospital based case control study was designed to investigate role of renalase in PE. 384 Chinese women consisting of subjects with normotensive pregnancy (n = 105), women with PE (n = 121) and healthy pregnancy (n = 158) were included in the study. Serum renalse level was measured in recruited subjects by ELISA. Renalase gene polymorphisms (rs10887800, rs2576178 and rs2296545) were genotyped by PCR-RFLP. Results A higher level of serum renalse in healthy pregnant women compared to controls, whereas, subjects with PE demonstrated a reduced level of this enzyme. Renalse level was negatively correlated with systolic as well as diastolic blood pressure, whereas, a positive association was observed with glomerular filtration rate. Prevalence of homozygous mutant (GG) and minor allele (G) of rs10887800 and rs2576178 polymorphisms were higher in PE patients compared to normotensive pregnant women and healthy controls. Furthermore, association of G-G-C haplotype with susceptibility to PE was observed. Conclusions Low level of renalse may be associated with high risk of PE during pregnancy. Renalase gene polymorphisms (rs10887800 and rs2576178) are correlated with with serum renalase and associated with predisposition to development of PE in Chinese cohort.

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“…Also, the SNP position, rs10887800 in intron 6 within the same gene is reported as a susceptibility variant in various diseases, such as developing ESRD in Egypt (Abdallah and Sabry, 2013;Kandil et al, 2018 andAbou Zaghla et al, 2020) and for hypertension in ESRD Polish Caucasian (Stec et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

A Genetic Risk Factor in Egyptian Children with A Family History of End-Stage Renal Disease

Ghazy

Salam

Rady

et al. 2021

Egyptian Academic Journal of Biological Sciences. C, Physiology

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Background: Family history of end-stage renal disease (ESRD) is a significant risk factor for the subsequent development of nephropathy. Recently, several studies have shed light on single-nucleotide polymorphisms (SNPs) within the renalase gene that is believed to be associated with this disease. Objective: Investigate the association of the susceptibility of rs2296545 and rs10887800 genotypes/alleles within the renalase (RNLS) gene in children with family history of ESRD. Methods:The study included eight children on regular hemodialysis with a family history of chronic kidney disease (CKD), thirty children their ages range from 4-18 years without a family history, and 27 controls. We evaluated demographic and biochemical information, and renalase genotypes/alleles of rs2296545 and rs10887800 by the Sanger sequencing method. All data, including genotypes and alleles frequencies, were analyzed. Results:The statistical evaluation of the rs2296545 showed significant increase relatively in CC genotypes and C alleles in dialyzed patients with a family history of CKD to those without family history with odds ratio of 7.70 (95%CI=3.35-17.72) and 3.16(95% CI=1.77-5.63); respectively. In rs10887800, there was a significant increase in GC and GG genotype distribution in dialyzed patients without a family history of CKD compared to the control group, odds ratio of 2.095 (95% CI=1.0057 -5.265) and 2.301 (1.0057 -5.265) (1.0322 -4.254); respectively. Conclusion: rs2296545 C allele may be considered as one of the genetic risk factors for ESRD pathogenesis in children with family history, and its corresponding G allele may have a protective role.

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Renalase gene polymorphisms (rs2576178 and rs10887800) in Egyptian hypertensive end stage renal disease patients

Cited by 8 publications

References 16 publications

Renalase—A new understanding of its enzymatic and non‐enzymatic activity and its implications for future research

Renalase—A new understanding of its enzymatic and non‐enzymatic activity and its implications for future research

Renalase levels and genetic variants are associated with preeclampsia: a hospital based study in Chinese cohort

A Genetic Risk Factor in Egyptian Children with A Family History of End-Stage Renal Disease

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