Contribution of polymorphic variants of monoaminoxidase genes in the development of antipsychotic hyperproplactinemia in schizophrenia

It was found that in persons exposed by vinyl chloride, the risk of hypertension increases six times in carriers of the genotype C/C polymorphic variant of Leu28Pro gene APO E, 9.5 times - in carriers of the genotype T/T polymorphic variant C786T gene eNOS3 and 1.75 times - in carriers of the genotype T/C polymorphic variant Met 235 Thr gene AGT.

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Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis

Russian Journal of Occupational Health and Industrial Ecology ◽

10.31089/1026-9428-2020-60-12-898-903 ◽

2020 ◽

Vol 60 (12) ◽

pp. 898-903

Author(s):

Lyudmila P. Kuzmina ◽

Anastasiya G. Khotuleva ◽

Evgeniy V. Kovalevsky ◽

Nikolay N. Anokhin ◽

Iraklij M. Tskhomariya

Keyword(s):

Antioxidant Enzymes ◽

Genetic Polymorphism ◽

Genetic Predisposition ◽

Risk Groups ◽

Dust Exposure ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Gstp1 Gene ◽

Polymorphic Variants

Introduction. Various industries widely use chrysotile asbestos, which determines the relevance of research aimed at the prevention of asbestos-related diseases. It is promising to assess the role of specific genes, which products are potentially involved in the development and regulation of certain links in the pathogenesis of asbestosis, forming a genetic predisposition to the disease. The study aims to analyze the presence of associations of genetic polymorphism of cytokines and antioxidant enzymes with asbestosis development. Materials and methods. Groups were formed for examination among employees of OJSC "Uralasbest" with an established diagnosis of asbestosis and without lung diseases. For each person included in the study, dust exposure doses were calculated considering the percentage of time spent at the workplace during the shift for the entire work time. Genotyping of single nucleotide polymorphisms of cytokines IL1b (rs16944), IL4 (rs2243250), IL6 (rs1800795), TNFα (rs1800629) and antioxidant enzymes SOD2 (rs4880), GSTP1 (rs1610011), CAT (rs1001179) was carried out. Results. The authors revealed the associations of polymorphic variants A511G IL1b gene (OR=2.457, 95% CI=1.232-4.899) and C47T SOD2 gene (OR=1.705, 95% CI=1.055-2.756) with the development of asbestosis. There was an increase in the T allele IL4 gene (C589T) frequency in persons with asbestosis at lower values of dust exposure doses (OR=2.185, 95% CI=1.057-4.514). The study showed the associations of polymorphism C589T IL4 gene and C174G IL6 gene with more severe asbestosis, polymorphism A313G GSTP1 gene with pleural lesions in asbestosis. Conclusion. Polymorphic variants of the genes of cytokines and antioxidant enzymes, the protein products directly involved in the pathogenetic mechanisms of the formation of asbestosis, contribute to forming a genetic predisposition to the development and severe course of asbestosis. Using the identified genetic markers to identify risk groups for the development and intense period of asbestos-related pathology will optimize treatment and preventive measures, considering the organism's characteristics.

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СONTRIBUTION OF POLYMORPHIC VARIATION OF ТP53 AND XRCC1 GENES TO THE SUSCEPTIBILITY TO BREAST CANCER FOR WOMEN OF KYRGYZ AND BELARUSIAN NATIONALITY - A COMPARATIVE STUDY ON MULTIFACTOR DIMENSIONALITY REDUCTION METHODS

Problems in oncology ◽

10.37469/0507-3758-2018-64-1-95-101 ◽

2018 ◽

Vol 64 (1) ◽

pp. 95-101

Author(s):

Nazira Aldasheva ◽

Vyacheslav Kipen ◽

Zhaynagul Isakova ◽

Sergey Melnov ◽

Raisa Smolyakova ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Dimensionality Reduction ◽

Multifactor Dimensionality Reduction ◽

Rflp Analysis ◽

Kyrgyz Republic ◽

Increased Risk ◽

Polymorphic Variants ◽

The Republic

Basing on Multifactor Dimensionality Reduction method we showed that polymorphic variants p.Q399R (rs25487, XRCC1) and p.P72R (rs1042522, TP53) correlated with increased risk of breast cancer for women from the Kyrgyz Republic and the Republic of Belarus. Cohort for investigation included patients with clinically verified breast cancer: 117 women from the Kyrgyz Republic (nationality - Kyrgyz) and 169 - of the Republic of Belarus (nationality - Belarusians). Group for comparison included (healthy patients without history of cancer pathology at the time of blood sampling) 102 patients from the Kyrgyz Republic, 185 - from the Republic of Belarus. Respectively genotyping of polymorphic variants p.Q399R (rs25487, XRCC1) and p.P72R (rs1042522, TP53) was done by PCR-RFLP. Analysis of the intergenic interactions conducted with MDR 3.0.2 software. Both ethnic groups showed an increase of breast cancer risk in the presence of alleles for SNPs Gln p.Q399R (XRCC1) in the heterozygous state: for the group “Kyrgyz” - OR=2,78 (95% CI=[1,60-4,82]), p=0,001; for the group “Belarusians” - OR=1,85 (95% СІ=[1Д1-2,82], p=0,004. Carriers with combination of alleles Gln (p.Q399R, XRCC1) and Pro (p.P72R, TP53) showed statistically significance increases of breast cancer risk as for patients from the Kyrgyz Republic (OR=2,89, 95% CI=[1,33-6,31]), so as for patients from the Republic of Belarus (OR=3,01, 95% CI=[0,79-11,56]).

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