Contribution of chromosomal abnormalities and genes of the major histocompatibility complex to early pregnancy losses

Tkach, I. R.; Sosnina, K. O.; Huleyuk, Nataliya; Terpylyak, O. I.; Zastavna, D. V.; Weise, Anja; Kosyakova, Nadezda; Liehr, Thomas

doi:10.7124/bc.0008cb

Cited by 3 publications

(2 citation statements)

References 28 publications

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“…The results obtained by Tkach et al ( 28 ) during genotyping of Ukrainian women with RM (HLA DQB1 0301 and DQA1 0501) were similar to Kazakh population. Iskhakov et al ( 29 ) showed a significant contribution of HLA DRB1 gene 15 allele to the increased risk of RM development.…”

Section: Discussionsupporting

confidence: 54%

Genetic Factors of Idiopathic Recurrent Miscarriage in Kazakh Population

Svyatova¹,

Mirzakhmetova²,

Berezina³

et al. 2022

JRI

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Background: It seems that 50% of the possible causes of recurrent miscarriage do not have any explainable etiology and they require in-depth etiopathogenesis analysis. The purpose of this research was to study polymorphisms relationship of the im-mune response genes including Val249Ile CX3CR1 (rs3732379), CT60 G/A CTLA4 (rs3087243), and HLA DQA1, DQB1, DRB1 (major histocompatibility complex, class II) with development of idiopathic form of recurrent miscarriage (iRM) in Kazakh population. Methods: TagMan genotyping for 302 patients with iRM and 300 women with normal reproduction was performed. Molecular genetic studies were carried out by the TaqMan method of unified site-specific amplification and real-time genotyping using test systems. Statistical tests and Chi Square were carried out using PLINK, STATA13 software and p˂0.05 was considered statistically significant. Results: It has been shown that carriage of unfavorable genotypes (Val/Ile, Val/Val) by the Val249Ile polymorphism of CX3CR1 gene increases the risk of developing iRM by 1.43 times. Search for associations of genes allelic variants of HLA class 2 complex with iRM revealed 501 allele in DQA1 locus, 0301 in DQB1 locus, 10, 12, 15, 16 alleles in DRB1 locus, which increase the risk of developing iRM in Kazakh population. Conclusion: The highly significant associations of immune response genes with development of iRM in Kazakh population indicate the possible involvement of the immune system interaction of mother cells with syncytiotrophoblast, which is realized by vascular defects and defective embryo implantation, causing termination of pregnancy.

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Section: Discussionsupporting

confidence: 54%

Genetic Factors of Idiopathic Recurrent Miscarriage in Kazakh Population

Svyatova¹,

Mirzakhmetova²,

Berezina³

et al. 2022

JRI

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show abstract

“…The complexity of the immunological relationship between mother and fetus during pregnancy dictates the need to continue research, study additional SNP genes of the immune response. The results obtained by I. Tkach [ 38 ] during genotyping of Ukrainian women with RM – HLA DQB1*0301 and DQA1*0501 are similar to risk alleles for the Kazakh population. A. Iskhakov [ 39 ] showed a significant HLA DRB1 gene 15* allele contribution to the increased risk of RM development.…”

Section: Discussionmentioning

confidence: 72%

Immunogenetic aspects of idiopathic recurrent miscarriage in the Kazakh population

Svyatova¹,

Mirzakhmetova²,

Berezina³

et al. 2021

JMedLife

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There are numerous scientific studies of recurrent miscarriage (RM) with possible causes, such as fetal chromosomal abnormalities, infectious agents, adverse environmental factors, bad habits, anatomical defects, thrombophilic disorders, etc. However, RM causes in 50% of cases remain unknown. These RM cases do not have any explainable etiology, and they require in-depth etiopathogenesis study, thus they are considered idiopathic RM. The purpose of this research is to study polymorphisms relationship of the immune response genes CX3CR1 (rs3732379, Val249Ile), CTLA4 (rs3087243, CT60 G/A), and HLA DQA1, DQB1, DRB1 (major histocompatibility complex, class II) with the idiopathic form of recurrent miscarriage (iRM) development in Kazakh population. Independent replicative TagMan genotyping for 302 patients with iRM and 300 women with normal reproduction was performed. It has been shown that carriage of unfavorable genotypes (Val/Ile, Val/Val) by the Val249Ile polymorphism of the CX3CR1 gene increases the risk of developing iRM by 1.43 times. Search for associations of genes allelic variants of HLA class 2 complex with iRM revealed *501 allele in DQA1 locus, *0301 in DQB1 locus, *10, *12, *15, *16 alleles in DRB1 locus, which increases the risk of developing iRM in Kazakh population with OR from 1.34 to 4.5. As a result of the study, obtained highly significant associations of immune response genes with the development of iRM in the Kazakh population indicate the possible involvement of the immune system interaction of mother cells with syncytiotrophoblast, which is realized by vascularization defects, defective embryo implantation, and leads to early pregnancies’ termination.

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The contribution of chromosomal abnormalities in the formation of sporadic and recurrent early reproductive losses

Tkach¹,

Huleiuk²,

Zastavna³

et al. 1970

Fakt. eksp. evol. org.

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Aim. The aim of the present study was to investigate the contribution of numerical chromosomal imbalances in products of conception from sporadic pregnancy loss (SPL) and recurrent pregnancy loss (RPL). Methods. Banding cytogenetic and interphase mFISH with the probe panel for chromosomes 13, 14, 15, 16, 17, 18, 21, 22, X and Y. Results. Cytogenetic studies of 419 spontaneously aborted fetuses were performed. The results were stratified in 3 groups according to anamnesis: Group I and II – SPL, Group III – RPL. The contribution of chromosomal aberrations was higher in the genesis of SPL (39.9 %) compared to RPL (27.1 %). Among most often diagnosed chromosomal change was triploidy – 27.19 % in SPL vs 27.78 % in RPL, monosomy X – 21.93 % vs 22.22 % and trisomy 16–18.42 % vs 19.44 %. Conclusions.Consequently, detection of chromosomal aneuploidies in samples from products of conception plays a key role to find out about reasons of reproductive failure in humans. Keywords: sporadic pregnancy loss, recurrent pregnancy loss, banding cytogenetic, interphase multicolor fluorescence in situ hybridization (mFISH), chromosome abnormalities.

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Contribution of chromosomal abnormalities and genes of the major histocompatibility complex to early pregnancy losses

Cited by 3 publications

References 28 publications

Genetic Factors of Idiopathic Recurrent Miscarriage in Kazakh Population

Genetic Factors of Idiopathic Recurrent Miscarriage in Kazakh Population

Immunogenetic aspects of idiopathic recurrent miscarriage in the Kazakh population

The contribution of chromosomal abnormalities in the formation of sporadic and recurrent early reproductive losses

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