The Influence of Promoter –202 A/C Polymorphism (rs2854744) of the IGFBP-3 Gene on Erectile Dysfunction Risk and Serum Levels of IGF-I and IGFBP-3

Safarinejad, Mohammad Reza; Shafiei, Nayyer; Safarinejad, Shiva

doi:10.1016/j.juro.2012.08.176

Journal of Urology

2013

DOI: 10.1016/j.juro.2012.08.176

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The Influence of Promoter –202 A/C Polymorphism (rs2854744) of the IGFBP-3 Gene on Erectile Dysfunction Risk and Serum Levels of IGF-I and IGFBP-3

Mohammad Reza Safarinejad¹,

Nayyer Shafiei²,

Shiva Safarinejad³

Abstract: The IGFBP-3 gene A-202C polymorphism does not modulate the risk of erectile dysfunction.

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Cited by 2 publications

References 24 publications

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IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome

Govahi Kakhki,

Sargazi,

Montazerifar

et al. 2024

Clinical Laboratory Analysis

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BackgroundInsulin resistance has been correlated with the genetic diversity within the insulin‐like binding proteins genes. Moreover, insulin resistance is one of the key characteristics of the widespread reproductive endocrine condition known as polycystic ovarian syndrome (PCOS). Hence, this study is aimed to determine the association between IGFBP3 and IGF2BP2 gene variants and PCOS risk.MethodsA total of 300 subjects (150 PCOS cases diagnosed based on Rotterdam ESHRE/ASRM consensus criteria and 150 healthy subjects) were recruited in this case–control cross‐sectional study. Tetra‐primer amplification refractory mutation system polymerase chain reaction (ARMS‐PCR) was used for genotyping rs11705701, whereas genotyping of rs1470579 and rs2854744 was done employing PCR‐restriction fragment length polymorphism (PCR‐RFLP) technique.ResultsThe CC and AA+AC genotypes of rs1470579 conferred an increased risk of PCOS in our population. Regarding the rs2854744, an increased risk of PCOS was observed under the codominant homozygous (TT vs. GG) model by 2.54 fold. The C allele of rs1470579 and T allele of rs2854744 enhanced PCOS risk by 1.97 and 1.46 folds, respectively. Haplotype analysis showed that the Ars1470579Ars11705701 haplotype conferred a decreased risk of PCOS (odds ratio = 0.53, 95% confidence interval = 0.34–0.83, p = 0.006). The AC/GG/GT, AA/GA/GT, AC/GA/GG, and AC/GA/GT genotype combinations of rs1470579/rs11705701/rs2854744 were associated with a decreased risk of the disease.ConclusionsIGF2BP2 rs1470579 and IGFBP3 rs2854744 enhanced PCOS susceptibility in a Southeastern Iranian population. Further investigation involving larger cohorts representing diverse ethnic backgrounds is needed to confirm the current findings.

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IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome

Govahi Kakhki,

Sargazi,

Montazerifar

et al. 2024

Clinical Laboratory Analysis

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A genome-wide association study to identify candidate genes for erectile dysfunction

Kazemi

Zargooshi

Kaboudi

et al. 2020

Briefings in Bioinformatics

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Erectile dysfunction (ED) can be caused by different diseases and controlled by several genetic networks. In this study, to identify the genes related to ED, the expression profiles of normal and ED samples were investigated by the Gene Expression Omnibus (GEO) database. Seventeen genes were identified as associated genes with ED. The protein and nucleic acid sequences of selected genes were retrieved from the UCSC database. Selected genes were diverse according to their physicochemical properties and functions. Category function revealed that selected genes are involved in pathways related to humans some diseases. Furthermore, based on protein interactions, genes associated with the insulin pathway had the greatest interaction with the studied genes. To identify the common cis-regulatory elements, the promoter site of the selected genes was retrieved from the UCSC database. The Gapped Local Alignment of Motifs tool was used for finding common conserved motifs into the promoter site of selected genes. Besides, INSR protein as an insulin receptor precursor showed a high potential site for posttranslation modifications, including phosphorylation and N-glycosylation. Also, in this study, two Guanine-Cytosine (GC)-rich regions were identified as conserved motifs in the upstream of studied genes which can be involved in regulating the expression of genes associated with ED. Also, the conserved binding site of miR-29-3p that is involved in various cancers was observed in the 3′ untranslated region of genes associated with ED. Our study introduced new genes associated with ED, which can be good candidates for further analyzing related to human ED.

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The Influence of Promoter –202 A/C Polymorphism (rs2854744) of the IGFBP-3 Gene on Erectile Dysfunction Risk and Serum Levels of IGF-I and IGFBP-3

Abstract: The IGFBP-3 gene A-202C polymorphism does not modulate the risk of erectile dysfunction.

Cited by 2 publications

References 24 publications

IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome

IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome

A genome-wide association study to identify candidate genes for erectile dysfunction

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