ORIGINAL ARTICLE: Comparison of Thrombophilic Gene Mutations Among Patients Experiencing Recurrent Miscarriage and Deep Vein Thrombosis

Coulam, Carolyn B.; Wallis, Diane E.; Weinstein, Jordan; DasGupta, Dipankar S.; Jeyendran, Rajasingam S.

doi:10.1111/j.1600-0897.2008.00640.x

Cited by 56 publications

(80 citation statements)

References 27 publications

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“…This statistically significantly increases the effectiveness of IVF in women with habitual failure of IVF [11,12]. Also the presence of the data about pathological alleles in this SNP panel genes allows to reduce the number of spontaneous abortions in women with recurrent miscarriage [6]. As a molecular mechanism provoking spontaneous thrombosis at the time of implantation and early placental development, we can assume the presence of explosive angiogenesis in which the development of an extensive vascular network is occurs during the extremely short period of time.…”

Section: Discussionmentioning

confidence: 99%

“…The presence of pathological alleles in these genes in the heterozygous state entails problems in female reproduction directly proportional to the age of the patient [4,6,[15][16][17][18]. At the molecular level, this manifests itself in violation of the balance between prothrombin and thrombin which causes 3-8 times increased risk of thrombosis [19].…”

Section: Snp In Blood Coagulation Factors Genes Which Were Included Imentioning

confidence: 99%

“…The need to study a number of SNP to determine the optimal treatment strategy has repeatedly proved, especially in conditions associated with a change in hormonal levels [6]. This need is reflected in the recommendations of the National Medical Eligibility Criteria for contraceptive methods in 2012.…”

Section: Introductionmentioning

confidence: 99%

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Toward optimal set of single nucleotide polymorphism investigation before IVF

Ivanov

Dedul

Fedotov

et al. 2016

Gynecological Endocrinology

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Background: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP. Materials and methods: During 2009-2015 in the University Hospital of St. Petersburg State University, blood samples were analyzed from 550 women with different reproductive system disorders preparing for IVF and 46 healthy women in control group. In total, 28 SNP were analyzed in the genes of thrombophilia factors, folic acid cycle, detoxification system, and the renin-angiotensin system. The method used was real-time PCR. Results: A significant increase in the frequency of pathological alleles of some polymorphisms in patients with habitual failure of IVF was shown, compared with the control group. As a result, two options defined panels for optimal typing SNP before IVF were composed. Standard panel includes 8 SNP, 5 in thromborhilic factors, and 3 in folic acid cycle genes. They are 20210 G4A of FII gene, R506Q G4A of FV gene (mutation Leiden), -675 5G44G of PAI-I gene, L33P T4C of ITGB3 gene, -455 G4A of FGB gene, 667 C4T of MTHFR gene, 2756 A4G of MTR gene, and 66 A4G of MTRR gene. Extended panel of 15 SNP also includes 807 C4T of ITGA2 gene, T154M C4T of GP1BA gene, second polymorphism 1298 A4C in MTHFR gene, polymorphisms of the renin-angiotensin gene AGT M235T T4C and -1166 A4C of AGTR1 gene, polymorphisms I105V A4G and A114V C4T of detoxification system gene GSTP. Conclusion:The results of SNP genotyping can be adjusted for treatment tactics and IVF, and also medical support getting pregnant. The success rate of IVF is increased as the result, especially in the group with the usual failure of IVF.

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Section: Discussionmentioning

confidence: 99%

Section: Snp In Blood Coagulation Factors Genes Which Were Included Imentioning

confidence: 99%

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Toward optimal set of single nucleotide polymorphism investigation before IVF

Ivanov

Dedul

Fedotov

et al. 2016

Gynecological Endocrinology

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show abstract

“…Bem como, o alelo 4G foi encontrado em maior frequência em indivíduos com TVP do que em controles, embora haja divergência na sobre esse dado na literatura (Sartori et al, 2003;Chen et al, 2005;Coulam et al, 2008;Akhter et al, 2010).…”

Section: Polimorfismo No Gene Do Pai-1 (Serpine1 4g/5g)unclassified

“…4G/5G com o aborto, entretanto os resultados descritos na literatura são divergentes (Guan et al, 2005;Coulam et al, 2008;Al Sallout e Sharif, 2010;Lambrinoudaki et al, 2010 Legnani et al, 2012). Outra protease que também apresenta a propriedade de ativar o TAFI é a plasmina (Vercauteren et al, 2012).…”

Section: Alguns Estudos Mostraram Associação Entre O Polimorfismo Serunclassified

Polimorfismos genéticos relacionados à hemostasia e a sua relação com abortos espontâneos recorrentes

Bertinato¹

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Genetics of recurrent pregnancy loss among Iranian population

Moghbeli

2019

Molec Gen & Gen Med

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Background Recurrent pregnancy loss (RPL) is one of the most common reproductive disorders which is defined as the occurrence of recurrent miscarriage before 24 weeks of gestation and is observed among 1%–5% of women. Methods Various factors are associated with RPL such as immunological disorders, maternal age, obesity, alcohol, chromosomal abnormality, endocrine disorders, and uterine abnormalities. About half of the RPL cases are related with chromosomal abnormalities. Therefore, RPL genetic tests are mainly limited to karyotyping. However, there is a significant proportion of RPL cases without any chromosomal abnormalities that can be related to the single‐gene aberrations. Therefore, it is required to prepare a diagnostic panel of genetic markers besides karyotyping. Results In the present review, we have summarized all the significant reported genes until now which are associated with RPL among Iranian women. We categorized all the reported genes based on their cellular and molecular functions in order to determine the molecular bases of RPL in this population. Conclusion This review paves the way of introducing a population‐based diagnostic panel of genetic markers for the first time among Iranian RPL cases. Moreover, this review clarifies the genetic and molecular bases of RPL in this population.

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ORIGINAL ARTICLE: Comparison of Thrombophilic Gene Mutations Among Patients Experiencing Recurrent Miscarriage and Deep Vein Thrombosis

Abstract: Screening for risk factors for inherited thrombophilia with only polymorphisms for factor V von Leiden, factor II prothrombin and MTHFR may be missing the more prevalent identifiers of jeopardy.

Cited by 56 publications

References 27 publications

Toward optimal set of single nucleotide polymorphism investigation before IVF

Toward optimal set of single nucleotide polymorphism investigation before IVF

Polimorfismos genéticos relacionados à hemostasia e a sua relação com abortos espontâneos recorrentes

Genetics of recurrent pregnancy loss among Iranian population

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