CDKN2A-CDKN2B and IGF2BP2 gene polymorphisms in women with polycystic ovary syndrome

Kim, Jiyoung; Choi, Yu Hyeon; Hwang, Kyu Ri; Kim, S.; Chae, S.J.; Yoon, Sang Ho

doi:10.1016/j.fertnstert.2014.07.901

Cited by 1 publication

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“…The SNP has been reported as a risk factor for T2DM in a southeast Iranian population by Sargazi et al [61] and in a Chinese population by Huang et al [62], as well as in similar studies [15,61]. Interestingly, Choi et al [63] found no significant association between rs1470579 and PCOS. As for the Cikman study, it found no association between LDL levels and the IGF2BP2 gene, although people carrying the risk allele of the gene had higher LDL levels than those with the AA genotype [64].…”

Section: Discussionmentioning

confidence: 89%

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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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Section: Discussionmentioning

confidence: 89%

“…Interestingly, Choi et al. [63] found no significant association between rs1470579 and PCOS. As for the Cikman study, it found no association between LDL levels and the IGF2BP2 gene, although people carrying the risk allele of the gene had higher LDL levels than those with the AA genotype [64].…”

Section: Discussionmentioning

confidence: 99%