scholarly journals Hypoxia-inducible factor: analysis of the HIF1A and HIF1B single nucleotide polymorphisms and their functional role in development of uterine fibroids

2020 ◽  
pp. 49-51
Author(s):  
Е.М. Барышева ◽  
С.М. Зайцев ◽  
Н.В. Горяинова ◽  
Л.А. Пономарева ◽  
О.Б. Полшведкина ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Single Nucleotide Polymorphisms ◽  
Protective Effect ◽  
Functional Role ◽  
Molecular Mechanisms ◽  
Hypoxia Inducible Factor ◽  
Uterine Fibroids ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

В исследование были включены 584 пациентки с миомой матки и 391 женщина контрольной группы. Генотипирование однонуклеотидных полиморфизмов (SNP) генов HIF1A и HIF1B (rs2301106, rs2301113, rs1951695, rs2057482, rs4899056 HIF1A и rs3738493, rs10847 HIF1B) было проведено методом ПЦР в режиме реального времени. Выявлен протективный эффект rs10847 HIF1B относительно риска развития миомы матки (OR=0,78, 95%CI=0,63-0,95; p=0,016). Обсуждаются молекулярные механизмы связи rs10847 HIF1B с патогенезом миомы матки. A total of 584 patients with uterine fibroids and 391 healthy controls were recruited for the study. Genotyping of single nucleotide polymorphisms (SNPs) of the HIF1A and HIF1B genes (rs2301106, rs2301113, rs1951695, rs2057482, rs4899056 HIF1A and rs3738493, rs10847 HIF1B) was performed using real-time PCR). The protective effect of rs10847 HIF1B against the risk of uterine fibroids was revealed (OR=0.78, 95%CI=0.63-0.95; P=0.016). The molecular mechanisms of the involvement of rs10847 HIF1B to the pathogenesis of uterine fibroids are discussed.

scholarly journals Association of genetic variations in genes involved in glutathione metabolism with risk of development of uterine fibroids

2020 ◽  
pp. 52-54
Author(s):  
О.К. Кудрявцева ◽  
Е.М. Барышева ◽  
И.Н. Вдовина ◽  
А.А. Клиновская ◽  
Е.А. Новикова ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Multiplex Pcr ◽  
Uterine Fibroids ◽  
Genetic Variations ◽  
Glutathione Metabolism ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Risk Of Disease

В исследование были включены 552 пациентки с миомой матки (ММ) и 337 женщин контрольной группы соответствующего возраста. Генотипирование однонуклеотидных полиморфизмов (rs713041 GPX4, rs4902346 GPX2, rs41303970 GCLM, rs17883901 GCLC, rs1050450 GPX1, rs1799811 и rs1695 GSTP1, rs2551715 GSR, rs1801310 GSS, rs4820599 GGT1, rs7674870 SLC7A11) было проведено методом ПЦР в режиме реального времени; генотипирование делеционных полиморфизмов (+/0 GSTM1 и +/0 GSTT1) было проведено методом мультиплексной ПЦР. С повышенным риском развития ММ ассоциировался rs7674870 SLC7A11 (OR=1,25, 95%CI=1,03-1,50; p=0,02). Полиморфизм rs2551715 GSR обладал протективным эффектом относительно развития заболевания (OR=0,83, 95%CI=0,70-0,99; p=0,04). A total of 552 females with uterine fibroids and 337 age-matched healthy controls were recruited for the study. Genotyping of single nucleotide polymorphisms (SNPs) of rs713041 GPX4, rs4902346 GPX2, rs41303970 GCLM, rs17883901 GCLC, rs1050450 GPX1, rs1799811 and rs1695 GSTP1, rs2551715 GSR, rs1801310 GSS, rs4820599 GGT1, rs7674870 SLC7A11 were done using Taq-Man-based assays. Genotyping of +/0 GSTM1 and +/0 GSTT1 polymorphisms were done using multiplex PCR. Polymorphism rs7674870 SLC7A11 was associated with increased risk of uterine fibroids (OR=1.25, 95%CI=1.03-1.50; p=0.02); rs2551715 GSR was associated with decreased risk of disease (OR=0.83, 95% CI=0.70-0.99; p=0.04)

scholarly journals Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase 1 Influenced the Age Onset of Parkinson’s Disease

2020 ◽  
Author(s):  
Nóra Török ◽  
Rita Maszlag-Török ◽  
Kinga Molnár ◽  
Zoltán Szolnoki ◽  
Ferenc Somogyvári ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Subgroup Analysis ◽  
Snp Analysis ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Indoleamine 2,3 Dioxygenase ◽  
Tryptophan Dioxygenase

Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson’s disease (PD). The first rate-limiting enzymes indoleamine 2,3-dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) have been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

Association of body mass index-related single nucleotide polymorphisms with psychiatric disease and memory performance in a Japanese population

2016 ◽  
Vol 29 (5) ◽  
pp. 299-308 ◽  
Author(s):  
Midori Ninomiya-Baba ◽  
Junko Matsuo ◽  
Daimei Sasayama ◽  
Hiroaki Hori ◽  
Toshiya Teraishi ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Single Nucleotide Polymorphisms ◽  
Japanese Population ◽  
Memory Performance ◽  
Psychiatric Disease ◽  
Psychiatric Diseases ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Poor Memory

ObjectiveObesity is a risk factor for psychiatric diseases. Recently, a number of single nucleotide polymorphisms (SNPs) have been shown to be related to body mass index (BMI). In this study, we investigated the association of BMI-related SNPs with psychiatric diseases and one of their endophenotypes, memory performance, in a Japanese population.MethodsThe subjects were 1624 patients with one of three psychiatric diseases (799 patients with major depressive disorder, 594 with schizophrenia, and 231 with bipolar disorder) and 1189 healthy controls. Memory performance was assessed using the Wechsler Memory Scale – Revised (WMS-R). Genomic DNA was prepared from venous blood and used to genotype 23 BMI-related SNPs using the TaqMan 5′-exonuclease allelic discrimination assay. We then analysed the relationships between the SNPs and psychiatric disease and various subscales of the WMS-R.ResultsThree SNPs (rs11142387, rs12597579, and rs6548238) showed significant differences in the genotype or allele frequency between patients with any psychiatric diseases and controls. Furthermore, six SNPs (rs11142387, rs12597579, rs2815752, rs2074356, rs4776970, and rs2287019) showed significant differences in at least one subscale of the WMS-R depending on the genotypes of the healthy controls. Interestingly, rs11142387 near the Kruppel-like factor 9 (KLF9) was significantly associated with psychiatric disease and poor memory function.ConclusionsWe identified three and six BMI-related SNPs associated with psychiatric disease and memory performance, respectively. In particular, carrying the A allele of rs11142387 near KLF9 was found to be associated with psychiatric disease and poor memory performance, which warrants further investigations.

scholarly journals Association between a Variant in MicroRNA-646 and the Susceptibility to Hepatocellular Carcinoma in a Large-Scale Population

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Rui Wang ◽  
Jun Zhang ◽  
Weiru Jiang ◽  
Yanyun Ma ◽  
Wenshuai Li ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Protective Effect ◽  
Large Scale ◽  
Cancer Development ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Scale Population

Background. Single-nucleotide polymorphisms in microRNAs play important roles in oncogenesis and cancer development.Objective. We aim to explore whether miR-646 rs6513497 is associated with the risk of hepatocellular carcinoma.Methods. Total 997 HCC patients and 993 cancer-free controls were enrolled in this study. Genotyping was performed using MassARRAY method.Results. Compared with the T allele of rs6513497, the G allele was associated with a significantly decreased risk of HCC (OR = 0.788, 95% CI = 0.631–0.985,P= 0.037); moreover, a more protective effect of the G allele was shown in males (OR = 0.695, 95% CI = 0.539–0.897,P= 0.005 in HCC and OR = 0.739, 95% CI = 0.562–0.972,P= 0.030 in HBV-related HCC), basically in a dominant manner (HCC: OR = 0.681, 95% CI = 0.162–0.896,P= 0.006; HBV-related HCC: OR = 0.715, 95% CI = 0.532–0.962,P= 0.027).Conclusions. Our findings support the view that the miR-646 SNP rs6513497 may contribute to the susceptibility of HCC.

scholarly journals Polymorphisms in the cytochrome P450 CYP1A1, CYP1A2, CYP1B1 genes and risk of colorectal cancer in a population from Central Russia

2020 ◽  
pp. 60-61
Author(s):  
А.С. Москалев ◽  
Ф.В. Подольский ◽  
С.М. Зайцев ◽  
Е.А. Новикова ◽  
А.В. Полоников ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cytochrome P450 ◽  
Single Nucleotide Polymorphisms ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Central Russia ◽  
Increased Risk ◽  
Age And Sex

В исследование были включены 256 пациентов с колоректальным раком (134 мужчины, 122 женщины) и 608 практически здоровых добровольцев (279 мужчин, 329 женщин). Генотипирование однонуклеотидных полиморфизмов I462V (rs1048943) CYP1A1, -154A>C (rs762551) CYP1A2 и L432V (rs1056836) CYP1B1 было проведено методом ПЦР в режиме реального времени. Полиморфизм rs1056836 CYP1B1 (замена L432V) ассоциировался с повышенным риском колоректального рака в популяции Центральной России: OR=1,48, 95%CI=1,07-2,04; р=0,02. A total of 256 patients with colorectal cancer (134 males, 122 females) and 608 age- and sex-matched healthy controls (279 males, 329 females) were recruited for the study. Genotyping of single nucleotide polymorphisms (SNPs) I462V (rs1048943) CYP1A1, -154A>C (rs762551) CYP1A2 and L432V (rs1056836) CYP1B1 were done using Taq-Man-based assays. Polymorphism rs1056836 (substitution L432V) CYP1B1 was associated with increased risk of colorectal cancer in the population from Central Russia: OR=1,48, 95%CI=1,07-2,04; p=0,02.

scholarly journals Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase Influenced the Age Onset of Parkinson’s Disease

2021 ◽  
Author(s):  
Nóra Török ◽  
Rita Maszlag-Török ◽  
Kinga Molnár ◽  
Zoltán Szolnoki ◽  
Ferenc Somogyvári ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Subgroup Analysis ◽  
Snp Analysis ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Indoleamine 2,3 Dioxygenase ◽  
Tryptophan Dioxygenase

Aims Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson’s disease (PD). The first rate-limiting enzymes indoleamine 2,3- dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) has been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. Main methods SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. Key findings No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. Significance The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

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