Polymorphism of the renalase gene in gestational diabetes mellitus

Fatima, Syeda Sadia; Jamil, Zehra; Alam, Faiza; Malik, Hajra Arshad; Madhani, Sarosh Irfan; Ahmad, Muhammad Saad; Shabbir, Tayyab; Rehmani, Muhammed Noman; Rabbani, Amna

doi:10.1007/s12020-016-1058-7

Cited by 21 publications

(14 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The rs10509540 polymorphism has been shown to have, in interaction with IL-2 gene polymorphism, an age-at-diagnosis effect on pediatric-onset T1DM [ 29 ]. The association was also found between RNLS rs10887800 polymorphism and gestational diabetes mellitus [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

Renalase gene Glu37Asp polymorphism affects susceptibility to diabetic retinopathy in type 2 diabetes mellitus

et al. 2021

View full text Add to dashboard Cite

Aims Renalase (RNLS) is an enzyme with monoamine oxidase activity that metabolizes circulating catecholamines. The RNLS gene Asp37Glu missense polymorphism (rs2296545) has been associated with hypertension, cardiac hypertrophy and dysfunction, and stroke. The purpose of our study was to investigate the potential involvement of this polymorphism in the microvascular complications of type 2 diabetes (T2DM). Methods In this case–control study, the polymorphism was genotyped in 860 patients with T2DM and 400 healthy controls. The genotype and allele distribution was compared in subgroups of patients: with diabetic nephropathy (DN+) (n = 405) versus DN− (independently of the presence of DR) and, similarly, patients with diabetic retinopathy (DR+) (n = 328) versus DR− (independently of the presence of DN). Results No significant association was detected between analyzed polymorphism and DN. In contrast, the retinopathy subgroup showed a significantly higher frequency of G allele (OR 1.4, 95% CI 1.16–1.72, p = 0.0005) and GG genotype (OR 1.86, 95% CI 1.26–2.75, p = 0.001) than DR− patients. The effect of RNLS Glu37Asp polymorphism on DR remained significant after adjustments for age, gender, BMI, and duration of T2DM (p = 0.005). Conclusions This is the first study to investigate RNLS gene polymorphism in microvascular complications of T2DM. The results suggest that RNLS rs2296545 SNP might be considered a risk factor for diabetic retinopathy in T2DM patients. This can provide new insight into the role of renalase gene in the pathophysiology of microvascular complications of diabetes.

show abstract

Section: Discussionmentioning

confidence: 99%

Renalase gene Glu37Asp polymorphism affects susceptibility to diabetic retinopathy in type 2 diabetes mellitus

et al. 2021

View full text Add to dashboard Cite

show abstract

“…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%

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

View full text Add to dashboard Cite

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

show abstract

“…Genetic discrepancies have also been established as the solid grounds in around 5%‐10% of infertile females 18 . Since SIRT1 is capable of moderating the key target proteins maintaining mitochondrial function, 19,20 it is expected that SIRT1 polymorphism (Tag SNPs rs10509291 and rs12778366) in females can cause a decrease in antioxidants, which may disturb the microenvironment hence causing infertility.…”

Section: Introductionmentioning

confidence: 99%

Suggested role of silent information regulator 1 (SIRT1) gene in female infertility: A cross‐sectional study in Pakistan

et al. 2021

Self Cite

View full text Add to dashboard Cite

Aim & Objective Silent information regulator 1 (SIRT1) gene stimulates the expression of antioxidants and repairs damaged cells. It affects the mitochondrial activity within the oocytes to overcome the oxidant stress. We aimed to assess an association of SIRT1 polymorphism (Tag SNPs rs10509291 and rs12778366) with fertility, and assess serum levels of follicle stimulating hormone (FSH), luteinizing hormone (LH), oestradiol, progesterone, manganese superoxide (MnSOD) and SIRT1. Material and Methods In this cross‐sectional study, 207 fertile and 135 infertile subjects between the ages of 18‐45 years were recruited. Polymerase chain reaction (PCR) was performed; products were electrophoresed in a 2% agarose gel. Descriptive analysis of continuous variables was expressed as mean ± standard deviation. Mann‐Whitney test was performed for comparison of groups, P value <.001 was considered significant. Single Nucleotide Polymorphism (SNP) data were analysed by applying chi‐squared statistics. Results All subjects were age matched (P = .896). SIRT1 levels were significantly lower in infertile females when compared with fertile subjects (P < .001). AA (rs10509291) and CC (rs12778366) variant frequency was higher in the infertile than fertile subjects (P < .01). Similarly, the frequency of A allele (rs10509291) and C allele (rs12778366) was higher in infertile subjects (P < .001). Infertile females (29%) showed existence of SNP rs10509291 while 49% demonstrated genetic variation of rs12778366. MnSOD and SIRT1 levels were found to be lower in these subjects. Conclusion The presence of SIRT1 genetic variants (rs10509291 and rs12778366) apparently disturbs the expression of SIRT1 deteriorating mitochondrial antioxidant function within the oocytes, instigating oxidative stress within. Their probable effect on modulating oocyte maturation may be the cause of infertility in females.

show abstract

Polymorphism of the renalase gene in gestational diabetes mellitus

Cited by 21 publications

References 35 publications

Renalase gene Glu37Asp polymorphism affects susceptibility to diabetic retinopathy in type 2 diabetes mellitus

Renalase gene Glu37Asp polymorphism affects susceptibility to diabetic retinopathy in type 2 diabetes mellitus

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

Suggested role of silent information regulator 1 (SIRT1) gene in female infertility: A cross‐sectional study in Pakistan

Contact Info

Product

Resources

About