Genetic polymorphisms of CYP genes in Serbian population

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Genetic polymorphisms of CYP genes in Serbian population (en)
Анализа генских полиморфирзама ЦИП изоензима у популацији Србије (sr)
Analiza genskih polimorfirzama CIP izoenzima u populaciji Srbije (sr_RS)
Authors

Publications

Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility

Đurović, Jelena; Stamenković, Gorana; Todorović, Jelena; Aleksić, Natasa; Stojković, Oliver

(2020)

TY  - JOUR
AU  - Đurović, Jelena
AU  - Stamenković, Gorana
AU  - Todorović, Jelena
AU  - Aleksić, Natasa
AU  - Stojković, Oliver
PY  - 2020
UR  - https://www.tandfonline.com/doi/full/10.1080/14647273.2018.1515503
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/3141
AB  - AbstractUnexplained infertility refers to the absence of a definable cause of reproductive failure. Vitamin D receptor (VDR) acts as a transcription factor and regulates a number of vitamin D-responsive genes, including those involved in the immune system. Recent finding that VDR is expressed in reproductive tissues suggests a possible importance of vitamin D in pregnancy. We conducted a case-control study to examine the association of polymorphisms in VDR gene with reproductive success. DNA from 117 female patients with unexplained infertility and 130 fertile controls was isolated from peripheral blood and VDR genotypes (FokI, BsmI, ApaI and TaqI) were detected by PCR-RFLP. Haplotypes were determined using Haploview software. Our results show significant association of FokI and BsmI polymorphisms with infertility (p < 0.05). The haplotype analysis confirmed strong linkage disequilibrium between closely positioned BsmI, ApaI and TaqI polymorphisms. Two haplotypes were associated with infertility: (i) hapl...
T2  - Human Fertility
T1  - Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility
IS  - 2
VL  - 23
DO  - 10.1080/14647273.2018.1515503
SP  - 101
SP  - 101
EP  - 110
EP  - 110
ER  - 
@article{
author = "Đurović, Jelena and Stamenković, Gorana and Todorović, Jelena and Aleksić, Natasa and Stojković, Oliver",
year = "2020",
abstract = "AbstractUnexplained infertility refers to the absence of a definable cause of reproductive failure. Vitamin D receptor (VDR) acts as a transcription factor and regulates a number of vitamin D-responsive genes, including those involved in the immune system. Recent finding that VDR is expressed in reproductive tissues suggests a possible importance of vitamin D in pregnancy. We conducted a case-control study to examine the association of polymorphisms in VDR gene with reproductive success. DNA from 117 female patients with unexplained infertility and 130 fertile controls was isolated from peripheral blood and VDR genotypes (FokI, BsmI, ApaI and TaqI) were detected by PCR-RFLP. Haplotypes were determined using Haploview software. Our results show significant association of FokI and BsmI polymorphisms with infertility (p < 0.05). The haplotype analysis confirmed strong linkage disequilibrium between closely positioned BsmI, ApaI and TaqI polymorphisms. Two haplotypes were associated with infertility: (i) hapl...",
journal = "Human Fertility",
title = "Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility",
number = "2",
volume = "23",
doi = "10.1080/14647273.2018.1515503",
pages = "101-101-110-110"
}
Đurović, J., Stamenković, G., Todorović, J., Aleksić, N.,& Stojković, O.. (2020). Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility. in Human Fertility, 23(2), 101-110.
https://doi.org/10.1080/14647273.2018.1515503
Đurović J, Stamenković G, Todorović J, Aleksić N, Stojković O. Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility. in Human Fertility. 2020;23(2):101-110.
doi:10.1080/14647273.2018.1515503 .
Đurović, Jelena, Stamenković, Gorana, Todorović, Jelena, Aleksić, Natasa, Stojković, Oliver, "Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility" in Human Fertility, 23, no. 2 (2020):101-110,
https://doi.org/10.1080/14647273.2018.1515503 . .
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Hemostasis-related gene polymorphisms and their epistatic relationship in women with idiopathic infertility

Veličković, Jelena; Zeljić, Katarina; Todorovic, Jelena; Stamenković, Gorana; Stojković, Oliver

(2019)

TY  - JOUR
AU  - Veličković, Jelena
AU  - Zeljić, Katarina
AU  - Todorovic, Jelena
AU  - Stamenković, Gorana
AU  - Stojković, Oliver
PY  - 2019
UR  - https://insights.ovid.com/crossref?an=00001721-201909000-00001
UR  - http://insights.ovid.com/crossref?an=00001721-201909000-00001
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/3457
UR  - https://journals.lww.com/bloodcoagulation/Abstract/2019/09000/Hemostasis_related_gene_polymorphisms_and_their.1.aspx
AB  - A numerous factor can cause infertility, but around one of four reproductive failure cases remain unexplained and diagnosed as idiopathic infertility. In the past few decades, analysis of gene polymorphisms takes a significant place in pathogenesis of infertility. The aim of this study was to evaluate the possible role of hemostasis-related gene polymorphisms in unexplained infertility. The study includes 117 female patients with idiopathic infertility and 130 fertile women with at least one born child. Eight polymorphisms important for hemostasis (ITGB3 1565T>C, FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, ATIII 786G>A, PAI-14G/5G and ACE I/D) were genotyped by real-time PCR system. The frequencies of alleles and genotypes of examined polymorphisms were analyzed in SPSS statistical program, whereas gene interactions were identified using the GMDR software. Examination of etiological factors has shown that family history is a significant factor in assessing individual risk for infertility. The alleles and genotypes frequency of FV 1691G>A and FII 20210G>A polymorphisms were statistically different between control and patient group leading to a greater risk for infertility. The analysis of epistatic relationship between examined hemostasis-related gene polymorphisms identified more complex high-risk genotypes associated with infertility. Our results suggest that positive family history could be important predictive factor for fertility problems, pointing to the potential hereditary basis of this condition. Polymorphisms FVL and FII prothrombin are independent risk factors for idiopathic infertility, whereas multilocus interactions approach should be taken into consideration for the future research.
T2  - Blood Coagulation & Fibrinolysis
T1  - Hemostasis-related gene polymorphisms and their epistatic relationship in women with idiopathic infertility
IS  - 6
VL  - 30
DO  - 10.1097/MBC.0000000000000830
SP  - 253
EP  - 262
ER  - 
@article{
author = "Veličković, Jelena and Zeljić, Katarina and Todorovic, Jelena and Stamenković, Gorana and Stojković, Oliver",
year = "2019",
abstract = "A numerous factor can cause infertility, but around one of four reproductive failure cases remain unexplained and diagnosed as idiopathic infertility. In the past few decades, analysis of gene polymorphisms takes a significant place in pathogenesis of infertility. The aim of this study was to evaluate the possible role of hemostasis-related gene polymorphisms in unexplained infertility. The study includes 117 female patients with idiopathic infertility and 130 fertile women with at least one born child. Eight polymorphisms important for hemostasis (ITGB3 1565T>C, FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, ATIII 786G>A, PAI-14G/5G and ACE I/D) were genotyped by real-time PCR system. The frequencies of alleles and genotypes of examined polymorphisms were analyzed in SPSS statistical program, whereas gene interactions were identified using the GMDR software. Examination of etiological factors has shown that family history is a significant factor in assessing individual risk for infertility. The alleles and genotypes frequency of FV 1691G>A and FII 20210G>A polymorphisms were statistically different between control and patient group leading to a greater risk for infertility. The analysis of epistatic relationship between examined hemostasis-related gene polymorphisms identified more complex high-risk genotypes associated with infertility. Our results suggest that positive family history could be important predictive factor for fertility problems, pointing to the potential hereditary basis of this condition. Polymorphisms FVL and FII prothrombin are independent risk factors for idiopathic infertility, whereas multilocus interactions approach should be taken into consideration for the future research.",
journal = "Blood Coagulation & Fibrinolysis",
title = "Hemostasis-related gene polymorphisms and their epistatic relationship in women with idiopathic infertility",
number = "6",
volume = "30",
doi = "10.1097/MBC.0000000000000830",
pages = "253-262"
}
Veličković, J., Zeljić, K., Todorovic, J., Stamenković, G.,& Stojković, O.. (2019). Hemostasis-related gene polymorphisms and their epistatic relationship in women with idiopathic infertility. in Blood Coagulation & Fibrinolysis, 30(6), 253-262.
https://doi.org/10.1097/MBC.0000000000000830
Veličković J, Zeljić K, Todorovic J, Stamenković G, Stojković O. Hemostasis-related gene polymorphisms and their epistatic relationship in women with idiopathic infertility. in Blood Coagulation & Fibrinolysis. 2019;30(6):253-262.
doi:10.1097/MBC.0000000000000830 .
Veličković, Jelena, Zeljić, Katarina, Todorovic, Jelena, Stamenković, Gorana, Stojković, Oliver, "Hemostasis-related gene polymorphisms and their epistatic relationship in women with idiopathic infertility" in Blood Coagulation & Fibrinolysis, 30, no. 6 (2019):253-262,
https://doi.org/10.1097/MBC.0000000000000830 . .
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Should MTHFR 1298 A&gt;C be tested together with MTHFR 677 C&gt;T polymorphism in women with reproductive challenges?

Đurović, Jelena; Stojković, Oliver; Todorović, Jelena; Savić, Kristina; Stamenković, Gorana

(2017)

TY  - JOUR
AU  - Đurović, Jelena
AU  - Stojković, Oliver
AU  - Todorović, Jelena
AU  - Savić, Kristina
AU  - Stamenković, Gorana
PY  - 2017
UR  - http://www.doiserbia.nb.rs/Article.aspx?ID=0534-00121702377D
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/2904
AB  - Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in the folate metabolism. The polymorphism 677C > T of the MTHFR gene, producing thermolabile enzyme with decreased function, is widely studied and associated with many conditions. Additionally, it has been shown that another polymorphism, 1298A > C, also reduces the activity of this enzyme, although to a lesser extent. The aim of this study is to evaluate the clinical informativeness of testing both MTHFR polymorphisms. Genomic DNA, were extracted from peripheral blood of 180 female patients with pregnancy complications and 183 healthy female controls, and genotyped for MTHFR 677C > T and 1298A > C loci, using TaqMan assays. Our study found similar frequency of alleles and genotypes between two groups. Based on MTHFR 677C > T genotype, 11.7% of patients homozygous for this mutation were under the possible risk. When the position 1298 was included in the testing, 22.8% of the patients were heterozygous for both polymorphisms. Additionally, 8.9% of the patients were homozygous only for the MTHFR 1298 mutation. Although, there was no differences compared to healthy control (p > 0.05), 43% of patients were found to have elevated risk which is about four time higher than results with only MTHFR 677C > T genotyping. After obtaining information for the 677 position, testing for the second polymorphism (1298A > C) should be considered, since we have shown that it dramatically increases the rate of detection of patients who are potentially at risk for MTHFR associated conditions.
T2  - Genetika
T2  - Genetika
T1  - Should MTHFR 1298 A&gt;C be tested together with MTHFR 677 C&gt;T polymorphism in women with reproductive challenges?
IS  - 2
VL  - 49
DO  - 10.2298/GENSR1702377D
SP  - 377
EP  - 386
ER  - 
@article{
author = "Đurović, Jelena and Stojković, Oliver and Todorović, Jelena and Savić, Kristina and Stamenković, Gorana",
year = "2017",
abstract = "Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in the folate metabolism. The polymorphism 677C > T of the MTHFR gene, producing thermolabile enzyme with decreased function, is widely studied and associated with many conditions. Additionally, it has been shown that another polymorphism, 1298A > C, also reduces the activity of this enzyme, although to a lesser extent. The aim of this study is to evaluate the clinical informativeness of testing both MTHFR polymorphisms. Genomic DNA, were extracted from peripheral blood of 180 female patients with pregnancy complications and 183 healthy female controls, and genotyped for MTHFR 677C > T and 1298A > C loci, using TaqMan assays. Our study found similar frequency of alleles and genotypes between two groups. Based on MTHFR 677C > T genotype, 11.7% of patients homozygous for this mutation were under the possible risk. When the position 1298 was included in the testing, 22.8% of the patients were heterozygous for both polymorphisms. Additionally, 8.9% of the patients were homozygous only for the MTHFR 1298 mutation. Although, there was no differences compared to healthy control (p > 0.05), 43% of patients were found to have elevated risk which is about four time higher than results with only MTHFR 677C > T genotyping. After obtaining information for the 677 position, testing for the second polymorphism (1298A > C) should be considered, since we have shown that it dramatically increases the rate of detection of patients who are potentially at risk for MTHFR associated conditions.",
journal = "Genetika, Genetika",
title = "Should MTHFR 1298 A&gt;C be tested together with MTHFR 677 C&gt;T polymorphism in women with reproductive challenges?",
number = "2",
volume = "49",
doi = "10.2298/GENSR1702377D",
pages = "377-386"
}
Đurović, J., Stojković, O., Todorović, J., Savić, K.,& Stamenković, G.. (2017). Should MTHFR 1298 A&gt;C be tested together with MTHFR 677 C&gt;T polymorphism in women with reproductive challenges?. in Genetika, 49(2), 377-386.
https://doi.org/10.2298/GENSR1702377D
Đurović J, Stojković O, Todorović J, Savić K, Stamenković G. Should MTHFR 1298 A&gt;C be tested together with MTHFR 677 C&gt;T polymorphism in women with reproductive challenges?. in Genetika. 2017;49(2):377-386.
doi:10.2298/GENSR1702377D .
Đurović, Jelena, Stojković, Oliver, Todorović, Jelena, Savić, Kristina, Stamenković, Gorana, "Should MTHFR 1298 A&gt;C be tested together with MTHFR 677 C&gt;T polymorphism in women with reproductive challenges?" in Genetika, 49, no. 2 (2017):377-386,
https://doi.org/10.2298/GENSR1702377D . .
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