scholarly journals XRCC1 codon 399 polymorphism (RS25487) in the Ukrainian population

1970 ◽  
Vol 21 ◽  
pp. 325-329
Author(s):  
Ya. M. Mishchuk ◽  
Ye. V. Kharkivska ◽  
S. V. Serha ◽  
S. Ye. Shkliar ◽  
V. B. Katrii ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Control Group ◽  
Genotype Distribution ◽  
Xrcc1 Gene ◽  
Arg399gln Polymorphism ◽  
Keywords Bladder Cancer ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants

Aim. To estimate the frequency of XRCC1 codon 399 polymorphic variants in bladder cancer patients and in a control group and define association of this polymorphism with a bladder cancer in Ukrainian patients. Methods. We determined the allele frequencies for 111 patients and 92 controls. Genotyping was performed by PCR-RELP method. Results. The distribution of genotypes in control group was: Arg/Arg – 48 % (n=44), Arg/Gln – 41.3 % (n=38), Gln/Gln – 10.7 % (n=10), whereas in group of patients with a bladder cancer the following distribution was observed: Arg/Arg – 56.8 % (n=63), Arg/Gln – 27.9 % (n=31), Gln/Gln – 15.3 % (n=17). Genotype distribution in control group was within Hardy-Weinberg equilibrium (χ2=59.7, p<0.0001), whereas in patient group it was not (χ2=0.172, p=0.678). No significant association was observed between the XRCC1 Arg399Gln polymorphism and bladder cancer risk. Conclusions. It is indicated that XRCC1 codon 399 polymorphism may not contribute to bladder cancer susceptibility in the Ukrainian population. Keywords: bladder cancer, polymorphism, XRCC1 gene, the cancer risk.

CAT-21 A/T Gene Polymorphisms Associated with Breast Cancer Susceptibility

2021 ◽  
Vol 32 (2) ◽  
pp. 79-84
Author(s):  
Kevin Owen ◽  
Siti Syarifah ◽  
Mutiara Indah Sari
Keyword(s):  
Breast Cancer ◽  
Oxidative Stress ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Healthy Control Group ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Healthy Control

Background: Oxidative stress induced cancer cell formation. Gene polymorphism plays roles in carcinogen metabolism, antioxidant and DNA repairing pathway was susceptibility to oxidative stress. This study aim to determine the association between CAT-21 A/T polymorphism with breast cancer susceptibility. Methods: Case control study was conducted on 65 breast cancer patient and 65 healthy control group. The whole blood samples were isolated from 65 breast cancer patients in Haji Adam Malik General Hospital Medan and 65 healthy control group. The CAT-21A/T polymorphism was analyzed by PCR-RFLP procedure. PCR-RFLP product was electrophoresed and visualized in agarose 4%. Results:The AA CAT-21 genotype were lower in breast cancer (BC) than healthy control (HC) group (31/47.7% vs 40/61.5%), in the contrary AT+TT genotype was greater in BC than HC group (34/52.3% vs 25/38.5%) with (p=0.159, OR=1.755, CI=0.874–3.525). A allele CAT-21 were found lower in BC than HC group (89/68.5% vs 105/80.8%) then T allele were greater in BC than HC group (41/31.5% vs 25/19.2%) with (p=0.033, OR=1.935;CI=1.022-3.428). Conclusions: There was significant difference in allele distribution of CAT-21 A/T between case and control group but no in genotype distribution. In this population study showed that allele of CAT -21 A/T polymorphism could represent as a risk factor to breast cancer. Bangladesh J Medicine July 2021; 32(2) : 79-84

Association of XRCC1 Arg399Gln polymorphism with bladder cancer susceptibility: A meta-analysis

Gene ◽  
2014 ◽  
Vol 534 (1) ◽  
pp. 17-23 ◽  
Author(s):  
Dengfeng Yang ◽  
Chuan Liu ◽  
Jing Shi ◽  
Ning Wang ◽  
Xiaobo Du ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
Xrcc1 Arg399gln ◽  
Arg399gln Polymorphism

scholarly journals Meta-analysis and trial sequential analysis of LncRNA H19 polymorphic variants on susceptibility to cancer

2020 ◽  
Author(s):  
Kunpeng Wang ◽  
Zheng Zhu ◽  
Yiqiu Wang ◽  
Dayuan Zong ◽  
Peng Xue ◽  
...  
Keyword(s):  
Subgroup Analysis ◽  
Sequential Analysis ◽  
Cancer Susceptibility ◽  
Human Cancer ◽  
Meta Analysis ◽  
Population Based ◽  
Trial Sequential Analysis ◽  
Control Group ◽  
Cancer Risks ◽  
Polymorphic Variants

Abstract Background: Although myriad researches upon the associations between LncRNA H19 polymorphic variants (rs2839698 G﹥A, rs3024270 C﹥G, rs2107425 C﹥T, rs2735971 A﹥G and rs217727 G﹥A) and the susceptibility to cancer have been conducted, these results remained contradictory and perplexing. Basing on that, a systematic review and updated meta-analysis was conducted to anticipate a fairly precise assessment about these associations. Methods: We retrieved the electronic databases EMBASE, PubMed and Web of Science for valuable academic studies before October 1st, 2019. Ultimately, 24 of which were encompassed after screening, and the available data was extracted and integrated. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) was adopted to evaluate the strength of these associations. For multi-level investigation, subgroup analysis derived from source of controls together with genotypic method was preformed. Eventually, 24 articles altogether embodying 52 studies were included. Results: The results illuminated that LncRNA H19 SNPs mentioned above were all irrelevant to cancer susceptibility. Nevertheless, crucial results were found concentrated in population-based control group when subgroup analysis by source of controls were performed in H19 mutation rs2839698 and rs2735971. Meanwhile, in the stratification analysis by genotypic method, apparent cancer risks were discovered by TaqMan method in H19 mutation rs2107425 and rs3024270. Then, trial sequential analysis (TSA) demonstrated that the results about such associations were firm evidence of effect, except rs2735971 polymorphism. Conclusion: Therefore, this meta-analysis indicated that LncRNA H19 SNPs were not associated with the susceptibility to human cancer. However, after the stratification analysis, inconsistent results still existed in different genotypic method and source of control. Thus, more high-quality studies on cancer patients of different factors were needed to confirm these findings.

scholarly journals POLYMORPHISM OF TISSUE INHIBITORS OF METALLOPROTEINASE-2 (G303 → A) GENE IN PATIENTS WITH INTESTINAL ANASTOMOTIC LEAK IN UKRAINIAN POPULATION

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Y.Y. Voitiv
Keyword(s):  
Statistical Analysis ◽  
Anastomotic Leak ◽  
Information Criterion ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Tissue Inhibitors ◽  
Tissue Inhibitors Of Metalloproteinase ◽  
Polymorphic Variants ◽  
Connective Tissue Pathology

Purpose - to analyze the frequency of polymorphic variants of tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene in patients with intestinal anastomotic leak.Material and methods. The object of the study comprises 61 patients with anastomotic leakand connective tissue pathology, who were treated in the department of thoracoabdominalsurgery of Shalimov National Institute of Surgery and Transplantology during 2017-2020. Laboratory, genetic, histological studies and statistical analysis were performed.Results. As a result of genetic and statistical analysis of the tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene polymorphisms, genotype variants have beenidentified that are associated with the risk of anastomotic leak in the hollow digestiveorgans. Significant differences in the distribution of genotypes in the studied groupswere revealed. Analysis of the multiplicative model of inheritance of tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene showed compliance of genotype distribution withHardy-Weinberg's law. All models of inheritance were analyzed and the best model withthe lowest Akaike Information Criterion, which turned out to be a recessive model, hasbeen determined.Conclusions. It is statistically significant that in the group of patients with intestinalanastomotic leak the GG variant of the TIMP-2 gene was detected in 1,6 times moreoften. Carriers of minor homozygotes of AA genotype in the group with suture failurewere not detected, while a similar genotype in the control group was found in 10%(p <0,05).

scholarly journals Connection for TESPA1 Polymorphisms to ankylosing spondylitis incidence in the Chinese Population

2020 ◽  
Author(s):  
Hua-Wei Liu ◽  
Dai-Xu Wei ◽  
Da-Wei He ◽  
Jiu-Zheng Deng ◽  
Jian-Jin Zhu ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Chinese Han Population ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Hardy Weinberg Equilibrium ◽  
And Control

Abstract Background The aim of this study was to investigate whether thymocyte-expressed, positive selection-associated 1 (TESPA1) gene polymorphisms were associated with increased risk of developing ankylosing spondylitis(AS) in a Chinese Han population. Methods A total of 99 AS patients were recruited as case group and 96 healthy individuals were collected as control group. TESPA1 polymorphisms were genotyped by polymerase chain reaction (PCR) and sequencing methods. The genotype distribution of TESPA1 gene rs4758993 and rs4758994 polymorphism was detected by Hardy-Weinberg equilibrium (HWE). The genotype and allele distributions of each polymorphism were also compared between groups. Moreover, odds ratios (OR) with 95% confidence intervals (95%CI) were calculated using the χ2 test to evaluate the association between AS susceptibility and TESPA1 polymorphisms. Results rs4758993 and rs4758994 polymorphisms were conformed to be in HWE in genotypes distribution of the control group (P > 0.05 for both). A remarkable decrease trend of rs4758993 AG genotype and A allele were detected in AS patients than in healthy controls (P = 0.01 and 0.02, respectively), indicating that they obviously decreased the risk of AS in a Chinese Han population (OR = 0.303, 95%CI = 0.144–0.637; OR = 0.002, 95%CI = 0.173–0.703). However, No significant differences were detected for TESPA1 gene rs4758994 polymorphism in both genotype and allele distributions between case and control groups (P > 0.05). Conclusions Our findings suggest that TESPA1 gene rs4758993 polymorphism was significantly associated with AS susceptibility in the Chinese Han population and the mutant A allele severed as a protect factor for the development of AS.

scholarly journals Characterization of a Novel Porcine CSN2 Polymorphism and Its Distribution in Five European Breeds

Animals ◽  
2019 ◽  
Vol 9 (7) ◽  
pp. 419
Author(s):  
Șuteu ◽  
Vlaic ◽  
Dărăban
Keyword(s):  
Genotype Distribution ◽  
Sequence Alignments ◽  
Large White ◽  
Population Number ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
The One ◽  
Landrace Population ◽  
Number Of Individuals

Here, we describe a novel porcine β-casein (CNS2) polymorphism, initially identified using the isoelectric focusing (IEF) technique, and provide its distribution in five European breeds. Porcine CSN2 cDNA samples, from sows identified using IEF as carriers of polymorphic variants, were sequenced, and based on the sequence alignments, a genotyping assay was developed. The distribution of the polymorphism was investigated by genotyping 167 sows. Population genetic indexes were computed using POPGENE32 version 1.32. Sequence alignments revealed that the mutation which caused the different β-casein IEF migration profiles was c.647G>A, a substitution located in exon 7, which modifies the amino acid from position 201 of the mature protein from arginine to glutamine. The frequency of the G allele was 0.965 in the investigated Landrace population (number of individuals genotyped n = 67), one in the Pietrain population (n = 40), 0.705 in the Large White population (n = 36), 0.885 in the Bazna population (n = 13), and 0.555 in the Mangalita population (n = 11). For all breeds, except Pietrain (monomorphic), the genotype distribution was in accordance with the Hardy–Weinberg equilibrium. Given that β-casein is the most important protein in sows’ milk, a polymorphism like the one described here may prove interesting for marker-assisted selection.

Polymorphism of HSD17B1 Ser312Gly with Cancer Risk: Evidence from 66,147 Subjects

2016 ◽  
Vol 19 (2) ◽  
pp. 136-145 ◽  
Author(s):  
Lijun Shi ◽  
Xue Yang ◽  
Xin Dong ◽  
Botao Zhang
Keyword(s):  
Cancer Risk ◽  
Large Scale ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
Population Based ◽  
Dependent Manner ◽  
Hormone Metabolism ◽  
Sex Steroid Hormone ◽  
Polymorphic Variants ◽  
Stratified Analysis

Hydroxysteroid (17-beta)dehydrogenase 1(HSD17B1) plays a central role in sex steroid hormone metabolism. HSD17B1 polymorphic variants may contribute to cancer susceptibility. Numerous investigations have been conducted to assess the association between HSD17B1 Ser312Gly polymorphism and cancer risk in multiple ethnicities, yet these have produced inconsistent results. We therefore performed this comprehensive meta-analysis to attempt to provide a quality assessment of the association of interest. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the strength of associations. After a systematic literature search of several major public databases, 20 studies involving 29,460 cases and 36,687 controls were included in this meta-analysis. No significant association was found between HSD17B1 Ser312Gly polymorphism and cancer risk. However, Ser312Gly polymorphism showed a significantly decreased risk for Caucasians (there were 44,284 Caucasians for analysis, comprising 19,889 cases and 24,395 controls) in the subgroup analysis by ethnicity (dominant: OR = 0.958, 95% CI = 0.919–0.998; and allele comparing: OR = 0.973, 95% CI = 0.947–0.999). And there was the same trend towards risk in the population-based (PB) controls (homozygous: OR = 0.951, 95% CI = 0.908–0.997 and allele comparing: OR = 0.976, 95% CI = 0.954–0.999), but not among Asians or hospital-based (HB) controls. In addition, no association was observed in the stratified analysis for breast cancer studies by source of control, ethnicity and quality score. These findings suggested that the HSD17B1 Ser312Gly polymorphism might confer genetic cancer susceptibility in an ethnic-dependent manner, especially among Caucasians. Well-designed, large-scale studies are warranted to validate these findings.

scholarly journals Study of the polymorphic variants of the PIP5K2A gene association with the comorbidity of alcoholism and affective disorders

2019 ◽  
pp. 124-126
Author(s):  
E. V. Mikhalitskaya ◽  
O. V. Roshchina ◽  
S. A. Ivanova ◽  
N. A. Bokhan
Keyword(s):  
Alcohol Dependence ◽  
Depressive Disorders ◽  
Neuronal Excitability ◽  
Control Group ◽  
Genotype Distribution ◽  
Patient Groups ◽  
The Common ◽  
Polymorphic Variants ◽  
Phosphatidylinositol 4

One of the common pathogenetic mechanisms of the formation of alcohol dependence and depressive disorders can be a violation of the neurotransmitter systems, in particular — dopamine. Phosphatidylinositol-4-phosphate-5-kinase type 2 alpha (PIP5K2A) plays an important role in the regulation of neuronal excitability and synaptic dopamine neurotransmission. The aim of this study was to assess the presence of associations of the PIP5K2A gene polymorphic variants with the comorbid course of alcohol dependence and depressive disorders. This study showed differences in the frequency of the genotype distribution of 3 PIP5K2A gene polymorphisms (rs946961, rs1132816, and rs1417374) both between patient groups compared with the control group, and between the patient group and the group with the comorbid course of disorders.

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