Allele In Case Group Research Articles

Polymorphism of p53 Codon 72 Gene on Cervical Cancer Incidence in Malay Population

In Indonesia, the cases of cervical cancer are estimated at around 50 per 100.000 people. Itwas estimatedthattherearemore than 1 millionwomenworldwidewho have cervical cancer,and most of them have not been diagnosed yet or do not have access to screening and medicaltreatment. P53 codon 72 polymorphism can affect the risk of cervical cancer through theregulation of proliferationandcellapoptosis.The purpose of this research was to investigate theassociation between p53 codon 72 polymorphism and cases of cervical cancer. This researchwas observational analytic research. The research was done by examining in the laboratory ofMolecular Biology, Faculty of Medicine, Universitas Sriwijaya by using a case-control studyapproach.Thesampleoftheresearchconsistedof 70 subjects,and they were divided into twogroups:35 in case group and 35 in the control group. The determination of genotype andallotype was done by using PCR-RFLP technics. The results of the research showed there wasa significant difference between p53 codon 72 polymorphism between the case group andcontrol group. The results of genotypes of p53 codon 72 polymorphism in the case groupwere seven respondents (20.0%) with Pro/Pro genotype, five respondents (14.3%) withArg/Arg genotype, and 23 respondents (65.7%) with Pro/Arg. While in control group, there were28 respondents (80.0%) with Pro/Pro genotype, 0 respondent (0.0%) with Arg/Arg genotype,and 7 respondents (20%) with Pro/Arg. The frequency of the Prolin allele in case group was 37(52.9%), and the Arginin allele was 33 (47.1%), while the frequency of the Prolin allele in thecontrol group was 63 (90%), and the Arginin allele was 7 (10%). The Chi-Squareofgenotypewasvalued0.000,OR1,304andCI95%1,071-5,891,whiletheallelewas valued 0.000, OR 8.027 andCI 95% 3.228-19.962. There was anassociation between genotype and allele of p53 codon 72polymorphismandcases of cervicalcancer.

Polymorphism of p53 Codon 72 Gene on Cervical Cancer Incidence in Malay Population

In Indonesia, the cases of cervical cancer are estimated at around 50 per 100.000 people. It was estimatedthattherearemore than1 millionwomenworldwidewho have cervical cancer,andmostofthemhave not been diagnosed yet or do not have access to screening and medical treatment. P53 codon 72 polymorphism can affect the risk of cervical cancerthrough the regulationofproliferationandcellapoptosis.The purpose of this research was to investigate the association between p53 codon 72 polymorphism and cases of cervical cancer. This research was observational analytic research. The research was done by examining in the laboratory of Molecular Biology, Faculty of Medicine, Universitas Sriwijaya by using a case-control study approach.Thesampleoftheresearchconsistedof 70subjects,andtheyweredividedintotwogroups:35in case group and 35 in the control group. The determination of genotype and allotype was done by using PCR-RFLP technics. The results of the research showed there was a significant difference between p53 codon 72 polymorphism between the case group and control group. The results of genotypes of p53 codon 72 polymorphism in the case group were seven respondents (20.0%) with Pro/Pro genotype, five respondents (14.3%) with Arg/Arg genotype, and 23 respondents (65.7%) with Pro/Arg. While in control group, there were 28 respondents (80.0%) with Pro/Pro genotype, 0 respondent (0.0%) with Arg/Arg genotype, and 7 respondents (20%) with Pro/Arg. The frequency of the Prolin allele in case group was 37 (52.9%), and the Arginin allele was 33 (47.1%), while the frequency of the Prolin allele in the control group was 63 (90%), and the Arginin allele was 7 (10%).TheChi-Squareofgenotypewas valued0.000,OR1,304andCI95%1,071-5,891,whiletheallelewas valued 0.000,OR8.027 andCI95% 3.228-19.962. Therewas an associationbetweengenotypeand allele of p53 codon72 polymorphismandcasesofcervicalcancer

Association of 5-lipoxygenase activating protein gene polymorphism and stroke: A study from north east of Iran

Background: Stroke is a multifactorial disorder and a major cause of morbidity and mortality around the world. There are growing numbers of candidate gene pathways which are thought to be associated with stroke. Genes involved in lipid metabolism are important issues in stroke studies. Studying different polymorphisms in these genes are becoming an interest for researchers. 5-lipoxygenase activating protein (ALOX5AP) is one of these genes. Different studies have provided different relations between ALOX5AP promoter polymorphism (rs17222919) and stroke. In the present study, we have evaluated this gene polymorphism in a population in north east of Iran. Methods: This case-control study took place in Ghaem Hospital, Mashhad, Iran. Patients with computed tomography (CT) or magnetic resonance imaging (MRI) confirmation for ischemic stroke were enrolled in this study and considered as case group. Healthy persons without ischemic stroke were control group. During 1-year period of this study, ALOX5AP gene polymorphism in 200 healthy patients (control group) as well as 228 patients with stroke (case group) was evaluated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: All of 428 persons (228 cases and 200 healthy controls) enrolled in this study. The genotype and allele frequency was significantly different between both groups (P = 0.001 and P = 0.003, respectively). A total number of 54 patients had G allele in case group in contrast to 27 ones in control group. Also, 174 patients in case group had T allele and 173 persons had this allele in control group. In compression of TT genotype, the risk of developing stroke in GG and TG genotypes increased by 3.998 and 1.643, respectively. Also the risk of ischemic stroke with G allele would increase by 2.128. Conclusion: According to our results, ALOX5AP promoter polymorphism (rs17222919) is related to increased ischemic stroke in Iranian population.

Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population.

To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case–control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy–Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39–2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01–4.75), AG (OR = 2.55, 95%CI: 1.64–3.96), and GG/AG (OR = 1.57, 95%CI: 1.19–2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

Apolipoprotein A5 and apolipoprotein C3 single nucleotide polymorphisms are correlated with an increased risk of coronary heart disease: a case-control and meta-analysis study.

BackgroundTriglycerides (TGs) are proatherogenic lipoproteins involving the risk of coronary heart disease (CHD), while apolipoprotein A5 (APOA5) and apolipoprotein C3 (APOC3) are main lipoproteins composing TG-rich lipoproteins. In this study, we aim to explore the correlation of CHD with APOA5 -1131 T > C and APOC3 -455 T > C single nucleotide polymorphisms (SNPs).MethodsA sum of 210 CHD patients, hospitalized between Jan. 2013 and Mar. 2015 at China-Japan Union Hospital, Jilin University, were selected as our case group and 223 healthy individuals who had physical examination at same hospital at the same period were selected as control group. The frequency distribution of genotypes of APOA5 -1131 T > C and APOC3 -455 T > C SNPs were measured by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The Stata 12.0 software was utilized for statistical analyses.ResultsThere was no significant difference on age and sex between case and control group (P > 0.05). History of smoking, drinking, hypertension and diabetes mellitus, body mass index and levels of TG and fasting blood sugar in case group were shown to be higher than control group (P < 0.05), while levels of total cholesterol, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol in case group were lower than control group (P < 0.05). Both CC and TC′ + CC frequencies of APOA5 -1131 T > C and APOC3 -455 T > C in case group were higher compared to control group (both P < 0.05). Additionally, T allele frequencies of the two SNPs in case group were lower than control group, while C allele in case group has higher frequencies compared to control group (both P < 0.05). The results of meta-analysis under allele and dominant models showed that APOA5 -1131 T > C and APOC3 -455 T > C SNPs are likely to increase the risk of CHD (both P < 0.05).ConclusionAPOA5 -1131 T > C and APOC3 -455 T > C SNPs may play potent roles in the development and progression of CHD.

Association of 5,10-Methylenetetrahydrofolate Reductase Polymorphisms, Arsenic Metabolism, and Arsenic Skin Lesions in Residents Chronically Exposed to Arsenic in Drinking Water

PP-31-168 Background/Aims: This study was conducted to investigate the relationship between 5,10-methylenetetrahydrofolate reductase (MTHFR) genetic polymorphism, arsenic metabolism, and arsenic skin lesions in residents chronically exposed to arsenic in drinking water (≥0.05 mg/L). Methods: In all, 50 subjects with skin lesions and 35 subjects without skin lesions recruited from an endemic arsenic poisoning area of Shanxi Province, China. Urinary inorganic and methylated arsenic was specified by high performance liquid chromatography combined with hydride generation atomic fluorescence spectrometry. MTHFRC677 polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism. Micronuclei assay was conducted to evaluate the genetic toxicity of arsenic. Results: The frequencies of TT genotype and T allele in case group were 34.0% and 56.0%, respectively, and were not significantly different from those in the controls (34.3% and 52.9%). MTHFR 677 polymorphism was significantly associated with arsenic methylation. Subjects with the genotype of CT/TT had the increased percentage of urinary As3+ (P = 0.029) and decreased percentage of urinary dimethylarsinic acid (P = 0.033). No associations were observed between arsenic methylation capacity and skin lesions or micronuclei frequency. Conclusion: MTHFRC677 polymorphism was significantly associated with arsenic methylation. We did not find the associations between genetic polymorphism of MTHFR(677C-T) and skin lesions or micronuclei frequency.

The correlation between HLA-A allele and anaphylactoid purpura in children of Mongolia

Objective To explore the association between HLA -A gene and anaphylactoid purpura(AP) in children of Mongolia in Inner Mongolia. To find correlated genes and study part of pathogenesis and the method of prevention and cure of AP. Methods The method of case control was adopted and selected 56 children with AP as case group and 66 health children as control group in Mongolia,who had resided in Inner Mongolia three generations without consanguinity, history of mixed, marriages, other medical history , and family history of immunity,led into polymerase chain reaction sequence specific oligonucleotide probes technique, analyzed the type of HLA-A gene. The compare of gene frenquency made with logistic regression after χ2 or Fisher test. Results The gene frenquency of HLA- A * 11 ( 16. 1% ) allele in case group compared to that of control group( 9. 1% ) ,Wald of HLA-A * 11 gene was 3. 954 ,P =0. 047, the difference had statistical significance. B = 0. 844 > 0, OR = 2. 325 > 1, it helped development of the disease,which 95％confident interval was 1. 012-5.340,which did not include 1 ,EF =0. 342 >0. Conclusion HLA-A * 11 allele may be the susceptible gene of AP in children of Mongolia in Inner Mongolia. Key words: AP; children,Mongolia; HLA-A; Gene; PCR-SSO

Association of genetic polymorphism of XPD with chromosomal damage in workers exposed to radiation

To explore association genetic polymorphism of XPD with chromosomal damage in workers exposed to radiation. 182 workers exposed to radiation for at least one year with chromosomal damage were selected as cases based on a general health examination for all workers exposed to radiation in Tangshan city. The control group without chromosomal damage was matched to case by age (within 5 years), sex, work unit, type of exposed to radiation, cumulate serve length (within 1 year) according to 1:1. The micro whole blood cultivation was used for the chromosome analysis. The chromosome aberration type and rate were observed and counted. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to examine the genotype of three XPD loci (751, 312 and 156). The frequency of XPD 751 AA in cases was higher than that in controls (P < 0.05). The frequency of 751 allele in case group was statistically higher than that in the control groups (P < 0.05). No statistical difference was found in the frequencies of XPD 312 genotype and allele between the case and control group (P > 0.05). 156 mutant gene type in case group was higher than that in the control groups. The frequency of 156 A allele in case group were higher than that of the control groups (P < 0.05). The frequency of genotype with both 751AA and 156CA or 751AA and 156AA was higher in cases than that of controls (P < 0.05). XPD 751AA genotype is a possible risk factor for radiation-induced chromosomal damage. XPD 156 mutant gene type is a possible risk factor for radiation-induced chromosomal damage. Individuals with both XPD 751AA and 156 (CA+AA) genotypes are susceptible to radiation-induced chromosomal damage. No association of XPD 312 polymorphism with radiation-induced chromosomal damage is found.

Relationship between pneumoconiosis and the polymorphisms of HLA-DRB1*, DQB1* genes

To explore the relationship between the polymorphism of HLA-DRB1*, DQB* genes and the susceptibility of pneumoconiosis. 1:1 case-control study was adopted. one hundred and thirteen cases of I grade pneumoconiosis were investigated. The control group were workers exposed to dust, who were the same sex, nationality, work place, time of beginning exposure and the cumulative exposure ages not over 2 years. PCR-SSP was used to detect 9 alleles in HLA-DRB1*, DQB1*. Information on related factors of pneumoconiosis was collected using a questionnaire. Univariate and multivariate logistic regression analysis were carried out with 1:1 case-control methodology. The frequency of HLA-DRB1*08 allele in case group was significantly higher than that of the controls (OR: 6.000; 95% CI: 1.9060 - 18.9414). The frequencies of HLA-DRB1*09, HLA-DQB1*06 in case group were significantly lower than those of the controls (OR: 0.259, 0.300; 95% CI: 0.1436 - 0.6268, 0.1149 - 0.5837 respectively). There were significant relationship between HLA-DRB1*08, HLA-DRB1*09, HLA-DQB1*06 alleles and pneumoconiosis after adjusting age, smoking, beginning age of exposure and cumulative length of exposure with multivariate logistic regression analysis (OR: 7.804, 0.225, and 0.269; 95% CI: 2.077 - 29.307, 0.083 - 0.609 and 0.117 - 0.613 respectively. Survival analysis showed that HLA-DQB1*06 allele was a protective factor and HLA-DRB1*08 allele was a risk factor for affecting pneumoconiosis latent period. HLA-DRB1*08 allele may be the susceptible risk gene for pneumoconiosis. HLA-DQB1*06 may be the protective gene against developing pneumoconiosis.