Analysis of the association of polymorphisms CASR and VDR with the development of nephrolithiasis in patients with primary hyperparathyroidism

2016 ◽  
Vol 61 (5) ◽  
pp. 4-8 ◽  
Author(s):  
Elena Viktorovna Peretokina ◽  
Ekaterina Aleksandrovna Pigarova ◽  
Natal'ya Georgievna Mokrysheva ◽  
Lyudmila Yakovlevna Rozhinskaya ◽  
Galina Viktorovna Baydakova ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gene Polymorphisms ◽  
Restriction Analysis ◽  
Phosphorus Metabolism ◽  
Chain Reaction ◽  
Calcium Phosphorus ◽  
Polymerase Chain ◽  
Relationship Of ◽  
The Relationship

Pathogenesis of nephrolithiasis (NL) at PHPT is not fully understood. Meanwhile, the detection of NL patients with PHPT is an absolute indication for parathyroidectomy. Conducted various studies aimed at finding a predictor of NL patients with PHPT. Actively study the role of genetic markers, particularly genes that regulate calcium-phosphorus metabolism.Objective — to assess the relationship of polymorphisms CASR and VDR with the development of the NL at PHPТ.Material and methods. A study to include 203 patients with confirmed PHPT, out of which 114 patients had the NL and 87 patients without NL. All patients were studied indicators calcium-phosphorus metabolism, the study of the level of PTH, vitamin D, the filtration function of the kidneys. All patients were studied indicators calcium-phosphorus metabolism, the level of PTH, vitamin D, the filtration function of the kidneys. The study of gene polymorphisms VDR (FokI, TaqI, BsmI, ApaI, Cdx2) was performed in 169 patients (113 with NL, 56 without NL) by polymerase chain reaction followed by restriction analysis; Study 3 polymorphisms CASR (A986S, R990G, Q1011E) was performed in 187 patients (110 with NL, 77 without NL), by direct sequencing.Results. No significant differences in the frequency of genotypes and alleles studied genes between the two groups has been received. According to logistic regression analysis, the only predictor of NL is the level of ionized calcium.Conclusions. The studied genes can not be used as predictors of the NL. May need to investigate other genes.

scholarly journals Role of plasminogen activator inhibitor-1 gene polymorphisms in osteoporosis: A study in Chinese post-menopausal women

2018 ◽  
Vol 16 ◽  
pp. 205873921876729
Author(s):  
An Wan ◽  
Daodong Liu
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Women ◽  
Plasminogen Activator Inhibitor ◽  
Plasminogen Activator Inhibitor 1 ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Post Menopausal ◽  
Activator Inhibitor ◽  
Pai 1

Osteoporosis is a chronic multifactorial disease characterized by deterioration of bone mass and is vulnerable to bone fracture. Plasminogen activator inhibitor-1 (PAI-1) is an important molecule for maintenance of optimum bone mass. Several single-nucleotide polymorphisms (SNPs) in PAI-1 have been reported to alter PAI-1 expression and/or the translational level. In this report, we explored the possible role of common PAI-1 gene polymorphisms on predisposition to osteoporosis in a Chinese cohort. A total of 364 post-menopausal Chinese women diagnosed of having osteoporosis and 350 healthy females hailing from similar areas were enrolled in this study. Five common SNPs (−844G > A, −6754G/5G, +43G > A, +9785G > A and +11053T > G) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Relative expression of PAI-1 mRNA and plasma PAI-1 levels were quantified by reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. Prevalence of homozygous mutant (5G/5G) and minor allele (5G) of PAI-1 (−675 4G/5G) polymorphism was significantly more frequent in patients than in healthy controls (5G/5G: P < 0.0001, odds ratio (OR) = 3.18; 5G: P < 0.0001, OR = 1.65). Both plasma PAI-1 and relative mRNA expression levels were significantly lower in patients compared to healthy controls. Interestingly, the quantity of plasma PAI-1 and mRNA expression was correlated with PAI-1 (−675 4G/5G) polymorphism: subjects with 4G/4G genotype had elevated PAI-1 in comparison to homozygous mutant, and displayed lower quantity of PAI-1 protein and mRNA values. PAI-1 (−675 4G/5G) mutant is associated with susceptibility to development of osteoporosis in post-menopausal Chinese women. Furthermore, this variant in the promoter region alters plasma protein levels and relative expression of PAI-1.

Zebrafish embryos exposed to deltamethrin exhibit abnormalities despite induced expression of related genes (you, you-too, momo and u-boot)

2018 ◽  
Vol 35 (1) ◽  
pp. 11-19
Author(s):  
Kuder Reshma Shabnam ◽  
Dharmapuri Gangappa ◽  
Gundala Harold Philip
Keyword(s):  
Vital Role ◽  
Primary Objective ◽  
Chain Reaction ◽  
Environmental Persistence ◽  
Expression Of Genes ◽  
Pericardial Edema ◽  
Eye Pigmentation ◽  
Polymerase Chain ◽  
Relationship Of ◽  
The Relationship

Evaluation of the toxic effects of a widely used synthetic pyrethroid, deltamethrin (DM), was carried out in this study. This pesticide is preferred for pest control because of its low environmental persistence and toxicity. We investigated the expression pattern of four genes, namely, you ( you), yot ( you-too), momo ( mom) and ubo ( u-boot) during early development of zebrafish, that is, from 12 hpf to 48 hpf stages. These stages are selected as most of the important developmental aspects take place during this period. All four genes are known to play a vital role in development of notochord and somites. To understand the effect of DM on development, embryos of 4 hpf stage were exposed to two concentrations (100 and 200 µg/L) of DM, and observations were made at 12, 24 and 48 hpf stages. Our earlier studies have shown phenotypic abnormalities such as notochord bending, tail deformation, yolk sac and pericardial edema, lightening of body and eye pigmentation and interfered in somite patterning, during these stages of development. Understanding the relationship of phenotypic abnormalities with these four genes has been our primary objective. These four genes were analyzed by Reverse transcription (RT)-polymerase chain reaction and intensity of the bands has shown induction in their expression after exposure to the toxicant. In spite of the expression of genes, it was noticed that DM caused abnormalities. It can be said from the results that translational pathway could have been affected.

The role of vitamin D dificiency in the development of pathology in women of perimenopausal age

2018 ◽  
pp. 76-79
Author(s):  
Kh.V. Kozak ◽  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Neurological Diseases ◽  
Research Direction ◽  
Literary Sources ◽  
Autoimmune Conditions ◽  
Calcium Phosphorus ◽  
The Relationship

The article presents an analysis of literary sources about contemporary views on the role of vitamin D deficiency in the health problems of women of the perimenopausal period. According to research data of recent years, vitamin D plays a role not only in the control of calcium-phosphorus metabolism, but also plays a role in the pathogenesis of cardiovascular and neurological diseases, insulin resistance and diabetes, in the development of cancer and autoimmune conditions, especially in women of perimenopausal age. It is important to continue the study of the relationship between vitamin D deficiency and menopausal and menopausal disorders. Currently, the existing principles and effectiveness of the correction of lack of vitamin D in improving the quality of life of women of perimenopausal age are ambiguously assessed, which determines the relevance of this research direction. Key words: perimenopausal period, insufficiency/deficiency of vitamin D.

Hopelessness and serotonin related genes in depresseed suicide attempters

2011 ◽  
Vol 26 (S2) ◽  
pp. 1620-1620
Author(s):  
D.B. Jovanovic ◽  
A. Jovanovic ◽  
M. Ivkovic ◽  
M. Jasovic Gasic
Keyword(s):  
Suicidal Behavior ◽  
Gene Polymorphisms ◽  
Polymerase Chain Reaction Method ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Suicide Attempters ◽  
Suicidal Intent ◽  
Polymerase Chain ◽  
Commit Suicide

IntroductionOne million people worldwide commit suicide each year; the number of attempters is 20 times larger. The diathesis to suicidal behavior is inherited independently from mental disorders and is most often associated with depression. The importance of serotonergic genes in the genesis of suicidal behavior and depression is assumed. The link between depression and suicidal behavior is hopelessness.ObjectivesAnalyzing the link of certain serotonergic alleles and genotypes with suicidal behavior and depression, as well as with hopelessness.AimsTo analyze the association of chosen serotonergic alleles and genotypes (5HTT LPR, LPR SNP, VNTR2; THP1 A218C, 5HTR1A C1019G; 5HTR2A T102C, C1354 T) with suicidal behavior, depression and hopelessness.MethodsThe study included 30 depressed suicide attempters, 30 depressed patients without attempt and 30 healthy controls. Polymerase Chain Reaction method was used to analyze serotonergic gene polymorphisms. Participants were tested with Beck Depression Inventory, Suicidal Intent Scale, Becks Hopelessness Scale.ResultsTwo analyzed polymorphisms are associated with depression, but not with suicidal behavior (5HTTintron 2 alele 10 and A218 of the TPH1 gene). Hopelessness is more prominent in depressed suicide attempters.ConclusionsThe results support the role of two serotonergic genes in the genesis of depression. Hopelessness is an important predictor of suicidal behavior. Further investigation of the role of serotonergic genes in various subtypes of suicidal behavior is suggested.

scholarly journals Relationship of genetic polymorphism of the acute phase marker of inflammation rs12218 of the SAA1 gene with clinical phenotypes of juvenile idiopathic arthritis

2021 ◽  
Vol 15 (2) ◽  
pp. 23-28
Author(s):  
M. Yu. Krylov ◽  
E. S. Fedorov ◽  
S. O. Salugina
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Clinical Phenotype ◽  
Control Group ◽  
Chain Reaction ◽  
Clinical Phenotypes ◽  
Clinical Variants ◽  
Polymerase Chain ◽  
Relationship Of ◽  
Systemic Onset

Objective: to test the hypothesis of a possible relationship between the rs12218 polymorphism of the SAA1 gene and a predisposition to different clinical phenotypes of juvenile idiopathic arthritis (JIA).Patients and methods. Genetic typing of rs12218 polymorphism was carried out in 142 children: 77 of them were diagnosed with JIA, including 30 patients with oligoarthritis (oJIA), 20 with polyarthritis (pJIA), and 27 with systemic onset (sJIA). Sixty five healthy volunteers were included in the control group. The rs12218 polymorphism of the SAA1 gene was investigated using real-time polymerase chain reaction.Results and discussion. A high risk of developing the clinical phenotype of oJIA in carriers of the C mutant allele of the rs12218 T/C polymorphism of the SAA1 gene was established. Statistically significant differences between the clinical phenotypes of oJIA and sJIA in the frequency distribution of genotypes and alleles of rs12218 T/C polymorphism of the SAA1 gene are shown.Conclusion. The results of the studies have confirmed the important role of the rs12218 T/C polymorphism of the SAA1 gene in the formation of susceptibility to clinical variants of JIA.

scholarly journals Association between NLPR1, NLPR3, and P2X7R Gene Polymorphisms with Partial Seizures

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Haidong Wang ◽  
Pengfei Xu ◽  
Dehua Liao ◽  
Ruili Dang ◽  
Xin He ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Purinergic Receptor ◽  
Partial Seizures ◽  
Chain Reaction ◽  
Chinese Han ◽  
Significant Difference ◽  
Inflammatory Processes ◽  
Polymerase Chain ◽  
The Brain

Objectives. Clinical and experimental evidence has clarified that the inflammatory processes within the brain play a pivotal role in the pathophysiology of seizures and epilepsy. Inflammasomes and P2X7 purinergic receptor (P2X7R) are important mediators during the inflammatory process. Therefore, we investigated the possible association between partial seizures and inflammasomes NLPR1, NLRP3, and P2X7R gene polymorphisms in the present study. Method. A total of 163 patients and 201 health controls were enrolled in this study and polymorphisms of NLPR1, NLRP3, and P2X7R genes were detected using polymerase chain reaction- (PCR-) ligase detection reaction method. Result. The frequency of rs878329 (G>C) genotype with C (CG + CC) was significantly lower among patients with partial seizures relative to controls (OR = 2.033, 95% CI = 1.290–3.204, p=0.002 for GC + CC versus GG). Intriguingly, we found that the significant difference of rs878329 (G>C) genotype and allele frequency only existed among males (OR = 2.542, 95% CI = 1.344–4.810, p=0.004 for GC + CC versus GG), while there was no statistically significant difference among females. However, no significant results were presented for the genotype distributions of rs8079034, rs4612666, rs10754558, rs2027432, rs3751143, and rs208294 polymorphisms between patients and controls. Conclusion. Our study demonstrated the potentially significant role of NLRP1 rs878329 (G>C) in developing susceptibility to the partial seizures in a Chinese Han population.

scholarly journals Evaluation of the relationship between IL-12, IL-13 and TNF-α gene polymorphisms with the susceptibility to brucellosis: a case control study

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Sima Kazemi ◽  
Asad Vaisi-Raygani ◽  
Fariba Keramat ◽  
Massoud Saidijam ◽  
Ali Reza Soltanian ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Serum Levels ◽  
Enzyme Linked Immunosorbent Assay ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Tnf Α ◽  
Polymerase Chain ◽  
The Relationship

Abstract Background The cytokine gene polymorphism is important for the genetic susceptibility of infectious diseases. The aim of the present study was to investigate the relationship between TNF-α, IL-12, and IL-13 gene polymorphisms and predisposition to brucellosis. Methods In this study, 107 patients with brucellosis and 107 healthy individuals were evaluated. The SNPs of TNF-α)- 238 G/A) and IL-12 (+ 1188 A/C) were done by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and IL-13 genotyping at positions − 1512 (A/C) and − 1112 (C/T) were analysis by restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) methods. IL-12, IL-13 and TNF-α serum levels were measured by a sandwich enzyme-linked immunosorbent assay (ELISA). Results IL-13 (−1512A/C) was associated with Brucellosis risk in dominant model (OR (95% CI) = 2.17 (1.02–4.62)), P-value = 0.041. However, there was no difference in allele and genotype frequencies of TNF-α)- 238 G/A), IL-12 (+ 1188 A/C) and IL-13 [− 1512 (A/C) and − 1112 (C/T)] between patients and controls. Serum levels of IL-12 and TNF-α were significantly more frequent in the patients than in the control groups. Conclusions The IL-13 gene polymorphism can be used as a biomarker for detecting susceptibility to Brucella disease.

scholarly journals Role of Microtubule-Associated Protein 1b in Urothelial Carcinoma: Overexpression Predicts Poor Prognosis

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 630 ◽  
Author(s):  
Tsu-Ming Chien ◽  
Ti-Chun Chan ◽  
Steven Kuan-Hua Huang ◽  
Bi-Wen Yeh ◽  
Wei-Ming Li ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Cancer Progression ◽  
Expression Study ◽  
Chain Reaction ◽  
Free Survival ◽  
Microtubule Associated Proteins ◽  
Associated Proteins ◽  
Polymerase Chain ◽  
The Relationship

We sought to examine the relationship between microtubule-associated proteins (MAPs) and the prognosis of urothelial carcinoma by assessing the microtubule bundle formation genes using a reappraisal transcriptome dataset of urothelial carcinoma (GSE31684). The result revealed that microtubule-associated protein 1b (MAP1B) is the most significant upregulated gene related to cancer progression. Real-time reverse-transcription polymerase chain reaction was used to measure MAP1B transcription levels in urothelial carcinoma of the upper tract (UTUC) and the bladder (UBUC). Immunohistochemistry was conducted to detect MAP1B protein expression in 340 UTUC and 295 UBUC cases. Correlations of MAP1B expression with clinicopathological status, disease-specific survival, and metastasis-free survival were completed. To assess the oncogenic functions of MAP1B, the RTCC1 and J82 cell lines were stably silenced against their endogenous MAP1B expression. Study findings indicated that MAP1B overexpression was associated with adverse clinical features and could independently predict unfavorable prognostic effects, indicating its theranostic value in urothelial carcinoma.

scholarly journals Impact of Vitamin D on Expression of SIRT7 and CYP24A1 in Human Breast Cancer Cells

2022 ◽  
Vol 2 ◽  
pp. 1
Author(s):  
Mandana Ameli Mojarad ◽  
Melika Ameli Mojarad ◽  
Mahnaz Noourbakhsh
Keyword(s):  
Breast Cancer ◽  
Vitamin D ◽  
Cancer Detection ◽  
Breast Cancer Cells ◽  
Diagnostic Biomarker ◽  
Human Breast Cancer Cells ◽  
Human Breast ◽  
Chain Reaction ◽  
Polymerase Chain

Objectives: Impact of vitamin D (1, 25 dihydroxy vitamin D3) (calcitriol) in the regulation of different genes has been investigated in different cancers including breast cancer (BC). Material and Methods: In the current study, we analyzed the expression levels of the CYP24A1 and SIRT7 genes and their relationship with patients’ clinical data in BC using polymerase chain reaction (PCR). Afterward, we tend to analyze the effect of vitamin D on the expression of these genes in cell lines (MCF7 and MDAMB231) to find the regulatory role of vitamin D in BC. Results: Our results showed that the CYP24A1 and SIRT7 were increased by vitamin D treatment and CYP24A1 levels were related to tumors stages (p = 0.03) and up-regulation of CYP24A1, SIRT7 had the distinguish potential for breast cancer detection based on their receiver operative characteristic (ROC) curve results (0.77, 0.84, respectively). Conclusion: In summary, CYP24A1, SIRT7 may be used as a possible diagnostic biomarker in BC treatment.

scholarly journals ASXL2 promotes colorectal cancer tumorigenesis by inducing cell proliferation

2020 ◽  
Author(s):  
Ran Cui ◽  
Ludi Yang ◽  
Yiwei Wang ◽  
Ming Zhong ◽  
Minhao Yu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cell Proliferation ◽  
Cox Regression ◽  
Malignant Tumors ◽  
Chain Reaction ◽  
Cox Regression Analysis ◽  
Polymerase Chain ◽  
Tumor Types ◽  
The Relationship

Abstract Background: Colorectal cancer is one of the most common malignant tumors worldwide. ASXL2 is an enhancer of trithorax and polycomb gene, which have been proved to act in many tumor types. The role of ASXL2 in the occurrence and development of tumors have been extensively studied in recent years. However the relationship between ASXL2 and the prognosis of CRC is still unclear.Methods: In this study, quantitative real-time polymerase chain reaction (qRT-PCR), Western blot analysis and immunohistochemistry (IHC) were used to examine the expression of ASXL2 in CRC tissues. Cells were transfected with siRNAs or lentivirus to regulate the expression of ASXL2. The effects of ASXL2 on proliferation of CRC cells were determined by CCK8 assay.Results: This study demonstrated that ASXL2 was significantly more expressed in CRC specimens relative to the normal adjacent tissues. The upregulation of ASXL2 was related to advanced clinical stages. Patients who exhibited high expression levels of ASXL2 had poorer overall survival, whereas those with low expression of ASXL2 survived longer. Multivariate Cox regression analysis revealed ASXL2 expression could be considered as an independent prognostic factor for CRC. Inhibition or overexpression of ASXL2 markedly influenced the proliferation of CRC cells.Conclusion: These results showed that ASXL2 could induce cell proliferation which is associated with poor prognosis of CRC patients and might be a new therapeutic target for CRC.

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