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

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Main Authors: Fatemeh Govahi Kakhki, Saman Sargazi, Farzaneh Montazerifar, Mahdi Majidpour, Atena Karajibani, Mansour Karajibani, Marzieh Ghasemi
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Published: Wiley 2024
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author Fatemeh Govahi Kakhki
Saman Sargazi
Farzaneh Montazerifar
Mahdi Majidpour
Atena Karajibani
Mansour Karajibani
Marzieh Ghasemi
author_facet Fatemeh Govahi Kakhki
Saman Sargazi
Farzaneh Montazerifar
Mahdi Majidpour
Atena Karajibani
Mansour Karajibani
Marzieh Ghasemi
Fatemeh Govahi Kakhki
Saman Sargazi
Farzaneh Montazerifar
Mahdi Majidpour
Atena Karajibani
Mansour Karajibani
Marzieh Ghasemi
collection Wiley Open Access
contents IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome Fatemeh Govahi Kakhki Saman Sargazi Farzaneh Montazerifar Mahdi Majidpour Atena Karajibani Mansour Karajibani Marzieh Ghasemi Journal of Clinical Laboratory Analysis ABSTRACTBackgroundInsulin 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. 10.1002/jcla.25021 http://creativecommons.org/licenses/by/4.0/
doi_str_mv 10.1002/jcla.25021
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institution Wiley Open Access
license_str_mv http://creativecommons.org/licenses/by/4.0/
publishDate 2024
publisher Wiley
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spellingShingle IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome
Fatemeh Govahi Kakhki
Saman Sargazi
Farzaneh Montazerifar
Mahdi Majidpour
Atena Karajibani
Mansour Karajibani
Marzieh Ghasemi
Journal of Clinical Laboratory Analysis
IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome Fatemeh Govahi Kakhki Saman Sargazi Farzaneh Montazerifar Mahdi Majidpour Atena Karajibani Mansour Karajibani Marzieh Ghasemi Journal of Clinical Laboratory Analysis ABSTRACTBackgroundInsulin 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. 10.1002/jcla.25021 http://creativecommons.org/licenses/by/4.0/
title IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome
topic Journal of Clinical Laboratory Analysis
url https://onlinelibrary.wiley.com/doi/10.1002/jcla.25021