Somatic mutations in MED12 gene exon 2 in women with a single uterine fibroid or multiple ones

Sogoyan, Sogoyan N.S.; Kuznetsova, Kuznetsova М.V.; Asaturova, Asaturova A.V.; Adamyan, Adamyan L.V.; Trofimov, Trofimov D.Yu.

doi:10.18565/aig.2018.12.63-70

Cited by 3 publications

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“…Furthermore, advanced analyses of familial predisposition, including such predispositions in twins, demonstrate the genetic nature of UL development [ 14 , 15 ] The MED12 somatic mutation has been identified as the one most closely associated with the risk of development of UL. In our previous study, we identified such mutations in the exon 2 of gene MED12 as most closely associated with the risk of the development of uterine fibroids [ 16 ]. While it has been accepted that UL patients have a genetic predisposition to the condition, it is equally understood that not all primary degree relatives of women with UL develop the disease.…”

Section: Introductionmentioning

confidence: 99%

Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

et al. 2022

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In order to determine genetic loci associated with decreasing risk of uterine leiomyomata (UL), a genome-wide association study (GWAS) was performed. We analyzed a group of patients with a family history of UL and a control group consisting of patients without uterine fibroids and a family predisposition to this pathology. Six significant single nucleotide polymorphisms were selected for PCR-genotyping of a large data set of patients with UL. All investigated loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, and rs17677069) demonstrated the lower frequency of minor alleles within a group of women with UL, especially in a subgroup consisting of patients with UL and a familial history of leiomyomata. We also found that the minor allele frequencies of these SNPs in our control group were higher than those across the Caucasian population in all. Based on the obtained data, an evaluation of the common risk of UL was performed. Further work will pave the way to create a specific SNP-panel and allow us to estimate a genotype-based leiomyoma incidence risk. Subsequent studies of genetic variability in a group of patients with a familial predisposition to UL will allow us to make the prediction of the development and course of the disease more individualized, as well as to give our patients personalized recommendations about individual reproductive strategies.

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Section: Introductionmentioning

confidence: 99%

Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

et al. 2022

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Familial predisposition to uterine leiomyoma: searching for genetic factors that increase the risk of leyomyoma development

Sogoyan¹,

Kuznetsova²,

Донников³

et al. 2020

Probl. reprod.

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Hereditary risk factors for uterine leiomyoma: a search for marker SNPs

Svirepova

Kuznetsova

Sogoyan

et al. 2020

BRSMU

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Uterine leiomyomas are a worrying reproductive health issue that has serious social implications. The aim of this study was to conduct a search for marker single nucleotide polymorphisms (SNPs) associated with uterine leiomyoma. To test the hypothesis about the contribution of genetic predisposition to the pathogenesis of myomas, the initial group of 100 patients with a verified diagnosis of uterine leiomyoma was divided into 2 subgroups: subgroup Ia (women with a family history of the disease) and subgroup 1b (women with no family history of the disease). The control group consisted of 30 postmenopausal patients who did not have a medical history of uterine fibroids and denied uterine fibroids in their close female relatives. DNA sequences were read using Sanger sequencing. Statistically significant differences (p < 0.05) were discovered between the analyzed groups in terms of genotype frequencies for rs12637801 and rs12457644. Also, previously unknown protective SNPs were identified whose rare alleles could predict the reduced risk of uterine leiomyomas.

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Somatic mutations in MED12 gene exon 2 in women with a single uterine fibroid or multiple ones

Cited by 3 publications

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Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

Familial predisposition to uterine leiomyoma: searching for genetic factors that increase the risk of leyomyoma development

Hereditary risk factors for uterine leiomyoma: a search for marker SNPs

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