scholarly journals POLIMORFISME GEN P21 CODON 31 RS 1801270 DENGAN KEJADIAN KANKER SERVIKS PADA ETNIS MELAYU DI SUMATERA SELATAN

2021 ◽  
Vol 8 (2) ◽  
pp. 127-138
Author(s):  
Diana Polania ◽  
Rizal Sanif ◽  
Legiran Legiran
Keyword(s):  
Case Control ◽  
Pcr Rflp ◽  
Human Papiloma Virus

Kanker servik adalah tumor ganas primer yang berasal dari sel epitel skuamosa.lebih dari 90% penyebab kanker leher rahim saat ini akibat Human Papiloma Virus (HPV) Gen yang terlibat dalam kanker servik adalah Gen P21 Codon 31 rs 1801270.Gen P21 Codon 31 rs 1801270 terletak pada kromosom 6p21.1 terdiri dari 3 ekson dan 2 intron dan mengkode protein 21-kd. Polimorfisme gen p21 dapat mempengaruhi ekspresi dan aktivitas protein berperan dalam ketahanan terhadap kanker serviks. Tujuan penelitian ini menganalisis hubungan polimorfisme gen p21 codon 31 dengan kejadian kanker serviks pada etnis melayu di sumatra selatan. Penelitian ini merupakan penelitian analitik observasional dengan desain Kasus Kontrol  ( Case - Control ).Penelitian ini dilaksanakan pada bulan maret 2019 di Biologimolekuler Fakultas Kedokteran Universitas Sriwijaya.Uji statistik menggunakan uji Chi - Square.Sampel penelitian ini menggunakan sampel darah yang diambil pada 70 sampel yang terdiri dari 35 dari kelompok kasus dan 35 dari kelompok kontrol.Polimorfisme Gen P21 Codon 31 rs1801270 dilakukan dengan metode PCR-RFLP. Tidak ditemukan adanya polimorfisme genotif dan alotif  Gen P21 Codon 31 rs1801270 terhadap kejadian kanker serviks pada etnis Melayu di Sumatra Selatan.

scholarly journals OPN gene locus is associated with the risk of knee osteoarthritis: a case–control study

2019 ◽  
Vol 39 (2) ◽  
Author(s):  
Houlai Shang ◽  
Yuedong Hao ◽  
Wenhao Hu ◽  
Xiaohui Hu ◽  
Qing Jin
Keyword(s):  
Knee Osteoarthritis ◽  
Chinese Population ◽  
Gene Locus ◽  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Case Control ◽  
Chinese Han ◽  
Knee Oa ◽  
Pcr Rflp ◽  
Control Study

AbstractBackground/aims: Studies have demonstrated that osteopontin (OPN) was associated with the severity and development of knee osteoarthritis (OA). Methods: The purpose of this case–control study was to investigate the association between OPN gene rs11730582 polymorphism and knee OA risk in a Chinese population. Genotyping was analyzed using standard PCR and restriction fragment length polymorphism (PCR-RFLP). Results: The present study found that C allele or CC genotype of OPN gene rs11730582 polymorphism was related to decreased risk for knee OA. Furthermore, positive associations were obtained amongst the females, and body mass index (BMI) < 25 kg/m2 groups. Conclusions: To sum up, the present study reveals that OPN gene rs11730582 polymorphism decreases the risk of knee OA in Chinese Han population.

scholarly journals Polymorphisms of the lipoprotein lipase gene as genetic markers for stroke in colombian population: a case control study

2016 ◽  
pp. 189-195 ◽  
Author(s):  
Leydi Carolina Velásquez Pereira ◽  
Clara Inés Vargas Castellanos ◽  
Federico Arturo Silva Sieger
Keyword(s):  
Ischemic Stroke ◽  
Acute Ischemic Stroke ◽  
Genetic Markers ◽  
Case Control ◽  
Lipase Gene ◽  
X Ray ◽  
Lpl Gene ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Control Study

Objective: To analyze if there is an association between the presence of polymorphisms in the LPL gene (rs320, rs285 and rs328) with development of acute ischemic stroke in Colombian population. Methods: In a case control design, 133 acute ischemic stroke patients (clinical diagnosis and x-ray CT) and 269 subjects without stroke as controls were studied. PCR -RFLP technique was used to detect rs320, rs285 and rs328 polymorphisms in the LPL gene. Results: In the present research was not found any association between any of the LPL gene polymorphism and acute ischemic stroke in the population studied; the allele and genotypic frequencies of the studied polymorphisms were similar in cases and controls and followed the Hardy-Weinberg equilibrium. The study was approved by the IRB and each subject signed the informed consent. Conclusion: LPL gene polymorphisms are not genetic markers for the development of stroke in the Colombian sample used.

scholarly journals Hubungan Polimorfisme Gen XRCC1 Arg399Gln Terhadap Kejadian Kanker Serviks Pada Wanita Ras Melayu

2018 ◽  
Vol 4 (1) ◽  
pp. 1-7
Author(s):  
Mega Sary ◽  
Legiran Legiran ◽  
Irsan Saleh
Keyword(s):  
Case Control ◽  
Wild Type ◽  
Chi Square ◽  
Xrcc1 Arg399gln ◽  
Human Papiloma Virus

Kanker serviks merupakan kanker yang terjadi pada serviks atau leher rahim, suatu daerah yang terletak pada organ reproduksi wanita yang merupakan pintu masuk ke arah rahim, letaknya antara rahim (uterus) dan liang senggama atau vagina. Insiden terjadinya kanker serviks dipengaruhi oleh Human Papiloma Virus (HPV), usia, usia terlalu muda berhubungan seksual, paritas, riwayat keluarga dan RAS. Gen XRCC1 sebagai perancah dalam BER yang terlibat dalam membantu memperbaiki kesalahan-kesalahan selama replikasi DNA serta  menjaga integritas genom. Single Nukleotida Polymorphism (SNP) di XRCC1 telah dikaitkan dengan pengembangan yang terjadi pada kanker serviks yang dapat mengurangi aktivitas perbaikan DNA, meningkatkan terjadinya mutasi sehingga kerentanan terhadap kanker. Penelitian ini bertujuan untuk melihat adakah hubungan polimorfisme gen XRCC1 Arg399Gln dengan kejadian kanker serviks. Penelitian ini merupakan penelitian observasional analitik dengan desain case-control dengan jumlah sampel sebanyak 35 orang wanita kanker serviks dan 35 orang wanita normal yang setiap sampel memiliki RAS melayu Jambi. Identifikasi polimorfisme gen XRCC1 Arg399Gln dilakukan dengan teknik PCR-RLFP amplifikasi dengan primer spesifik yang digunakan untuk melihat mutagenesis. Hasil analisis dengan uji Chi-Square genotipe G/G (Wild Type), G/A (Mutant Heterozigot) dan G/A (Mutant Heterozigot) terhadap kanker serviks nilai ? = 0,032 (OR : 10.074 ; CI : 1,186 -85,570). Kesimpulan ada hubungan polimorfisme genotip gen XRCC1 Arg399Gln terhadap kejadian kanker serviks pada wanita RAS Melayu Jambi. 

scholarly journals Association of Genetic Variants in IGF2-Related Genes With Risk of Metabolic Syndrome in the Chinese Han Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Weiwei Gui ◽  
Julong Liang ◽  
Xihua Lin ◽  
Nanjing Shi ◽  
Yiyi Zhu ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Case Control Study ◽  
Fasting Glucose ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Waist To Hip Ratio ◽  
Han Population ◽  
Pcr Rflp ◽  
Control Study

AimsTo explore associations between polymorphisms of IGF2-related genes including H19, IGF2, IGF2BP2 and IGF2R and Metabolic syndrome (MetS) susceptibility in the Chinese Han population.Methods66 subjects with MetS and 257 control subjects were collected for inclusion in a case-control study. PCR-RFLP was used to investigate polymorphisms in the H19, IGF2, IGF2BP2 and IGF2R genes. Elisa was used to detect the serum IGF2 concentrations.ResultsFemales carrying the GG and AG genotypes of rs680 (IGF2) exhibited a lower risk of MetS, compared with those harboring AA (adjusted OR = 0.388, p = 0.027), while GG and AG genotypes were associated with lower fasting glucose and HbA1c. In males, the Waist-to-Hip Ratio (WHR) and the level of TG were significantly higher in GG and AG genotypes than in the AA genotype of rs680 in IGF2. Levels of HDL-c were lower in men with GG and AG genotypes compared with those carrying the AA genotype. Serum IGF2 concentrations did not change among different genotypes. Finally, multifactor dimensionality reduction (MDR) analysis identified interactions between four polymorphisms: rs3741279 (H19), rs680 (IGF2), rs1470579 (IGF2BP2) and rs629849 (IGF2R).ConclusionsOur study suggests that IGF2-related genes including H19, IGF2, IGF2BP2 and IGF2R genes may play pivotal roles in the development of MetS.

scholarly journals Association of miR-499 Polymorphism and Its Regulatory Networks with Hashimoto Thyroiditis Susceptibility: A Population-Based Case-Control Study

2021 ◽  
Vol 22 (18) ◽  
pp. 10094
Author(s):  
Farhad Tabasi ◽  
Vahed Hasanpour ◽  
Shamim Sarhadi ◽  
Mahmoud Ali Kaykhaei ◽  
Pouria Pourzand ◽  
...  
Keyword(s):  
Immune System ◽  
Regulatory Networks ◽  
Target Genes ◽  
Case Control Study ◽  
Autoimmune Disorder ◽  
Hashimoto Thyroiditis ◽  
Population Based ◽  
Case Control ◽  
Pcr Rflp ◽  
Control Study

Hashimoto thyroiditis (HT) is a common autoimmune disorder with a strong genetic background. Several genetic factors have been suggested, yet numerous genetic contributors remain to be fully understood in HT pathogenesis. MicroRNAs (miRs) are gene expression regulators critically involved in biological processes, of which polymorphisms can alter their function, leading to pathologic conditions, including autoimmune diseases. We examined whether miR-499 rs3746444 polymorphism is associated with susceptibility to HT in an Iranian subpopulation. Furthermore, we investigated the potential interacting regulatory network of the miR-499. This case-control study included 150 HT patients and 152 healthy subjects. Genotyping of rs3746444 was performed by the PCR-RFLP method. Also, target genomic sites of the polymorphism were predicted using bioinformatics. Our results showed that miR-499 rs3746444 was positively associated with HT risk in heterozygous (OR = 3.32, 95%CI = 2.00–5.53, p < 0.001, CT vs. TT), homozygous (OR = 2.81, 95%CI = 1.30–6.10, p = 0.014, CC vs. TT), dominant (OR = 3.22, 95%CI = 1.97–5.25, p < 0.001, CT + CC vs. TT), overdominant (OR = 2.57, 95%CI = 1.62–4.09, p < 0.001, CC + TT vs. CT), and allelic (OR = 1.92, 95%CI = 1.37–2.69, p < 0.001, C vs. T) models. Mapping predicted target genes of miR-499 on tissue-specific-, co-expression-, and miR-TF networks indicated that main hub-driver nodes are implicated in regulating immune system functions, including immunorecognition and complement activity. We demonstrated that miR-499 rs3746444 is linked to HT susceptibility in our population. However, predicted regulatory networks revealed that this polymorphism is contributing to the regulation of immune system pathways.

scholarly journals IL-6 gene rs12700386 Polymorphism is Associated with Increased Risk of Knee Osteoarthritis Development in Chinese Han Population: A Case-Control Study

2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen
Keyword(s):  
Knee Osteoarthritis ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han ◽  
Knee Oa ◽  
Reverse Transcription Pcr ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Control Study

Abstract Background: There is an association between Interleukin-6 (IL-6) polymorphism and knee osteoarthritis (OA) risk. The case-control study aims at exploring how IL-6 rs12700386 polymorphism affects the knee OA risk in Chinese Han individuals.Methods: We extracted the DNA from 763 participants, thereinto, 352 were OA patients and 411 were healthy controls. The polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assisted in genotyping the IL-6 gene polymorphism. The relative expression exhibited by IL-6 in blood samples of knee OA patients was determined via a quantitative reverse transcription PCR (qRT-PCR). Results: We found that IL-6 rs12700386 enhanced the knee OA susceptibility. Based on a subgroup analysis, the loci magnified the knee OA risk in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking and drinking and rs12700386 genotype led to an increase in the knee OA risk, indicating an underlying interaction between gene and environment. Additionally, the rs12700386 was found to be related to increased IL-6 gene levels. Conclusion: These data indicate that rs12700386 polymorphism of IL-6 gene led to an increase in the knee OA risk specific to Chinese Han individuals.

scholarly journals Mir-125a rs12976445 is Associated with Susceptibility to Thyroid Cancer: A Case-control Study

2020 ◽  
Author(s):  
Nima Nima Montazeri-Najafabady ◽  
Mohammad Hossein Dabbaghmanesh ◽  
Abbas Ghaderi ◽  
Nazanin Chatrabnous ◽  
Mohammad Reza Arabnezhad ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Case Control ◽  
Occurrence Rate ◽  
Cancer Type ◽  
Dominant Model ◽  
Allele Distribution ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Cancer Types

Abstract Background: Thyroid cancer is the fifth communal cancer type in females and its occurrence rate continues to rise rapidly worldwide. Latest data demonstrated mir-125 is down-regulated in various cancer types. Methods: a case-control (179 cases, 165 controls) study in order to explore the association of mir-125 rs12976445 with the risk of thyroid cancer in the Iranian population was performed. In order to investigate rs12976445 C/T polymorphisms, polymerase chain reaction restriction–fragment length polymorphism (PCR–RFLP) was done. Logistic regression analyses were done to find the association of mir-125 rs12976445 C/T polymorphisms with thyroid cancer and its stages. Results: The genotype frequencies for patients was [(CC: 81(45.2%), CT: 75(41.9%), TT: 23 (12.9%)], and for controls was [(CC: 100 (60.1%), CT: 53(32.2%), TT: 12 (6.7%)]. The T allele distribution was significantly altered between patients and controls (P=0.002) with the odds ratio of 1.68. In the co-dominant model CC genotype was set as reference and compared with CT, and TT genotypes. In the dominant model, there was a significant difference between CC vs CT genotypes (adjusted OR = 1.69, 95% CI= 1-2.8, P = 0.026), and slightly significant differences between CC vs TT genotypes (adjusted OR = 2.18, 95% CI= 1-4.7, P = 0.047). we compared CT/TT genotype to the reference genotype (CC) and found a highly significant difference (adjusted OR = 1.78, 95% CI= 1.15-2.74, P = 0. 0.009).Conclusion: as the first study, our findings suggest that miR-125a rs12976445 is a possible prognostic biomarker for thyroid cancer patients.

Hubungan Polimorfisme Gen p53 Codon 72 dengan Kejadian Kanker Serviks di Rumah Sakit Dr. Mohammad Hoesin Palembang

2018 ◽  
Vol 1 (3) ◽  
pp. 209-216
Author(s):  
Lusia Hayati ◽  
Siska Delvia
Keyword(s):  
Case Control ◽  
P Value ◽  
Chi Square ◽  
P53 Codon 72 ◽  
Codon 72 ◽  
Pcr Rflp

Di Indonesia angka kejadian kanker serviks diperkirakan sekitar 50 per 100.000 penduduk. Diperkirakan ada lebih dari 1 juta perempuan di seluruh dunia dengan kanker serviks dan sebagian besar dari mereka belum didiagnosis atau tidak memiliki akses untuk skrining dan perawatan. Polimorfisme pada gen p53 codon 72 dapat mempengaruhi risiko kanker serviks melalui regulasi proliferasi dan apoptosis sel. Tujuan untuk mengetahui hubungan polimorfisme gen p53 codon 72 dengan kejadian kanker serviks. Penelitian ini merupakan penelitian observasional analitik. Pelaksanaan penelitian dengan pemeriksaan di laboratorium Biologi Molekuler Fakultas Kedokteran Universitas Sriwijaya dengan pendekatan studi Kasus  Kontrol (Case-Control). Terdapat 70 sampel yang dibagi 2 kelompok, yaitu 35 Kasus dan 35 Kontrol. Penentuan Genotip dan Alotip menggunakan teknik PCR-RFLP. Hasil penelitian menunjukkan ada perbedaan signifikan pada karakteristik responden yang diamati antar kelompok kasus dan kontrol. Hasil genotip gen p53 codon 72 pada kelompok kasus terdapat 7 subjek (20,0%) yang memiliki genotip Pro/Pro dan Arg/Arg  5 subjek (14,3%) dan ada 23 subjek (65,7%) yang memiliki memiliki genotip Pro/Arg. Pada kelompok kontrol terdapat 28 subjek (80,0%) yang memiliki genotip Pro/Pro dan Arg/Arg  0 subjek (0,0%) dan ada 7 subjek (20,0%) yang memiliki memiliki genotip Pro/Arg. Frekuensi alel Prolin pada kelompok kasus 37 alel (52,9%) dan alel Arginin 33 alel (47,1%) sedangkan pada kelompok kontrol alel Prolin 63 (90%) dan alel Arginin 7 alel (10%). Hasil uji chi square genotip didapatkan  p value 0.000, OR 1,304 and CI 95% 1,071-5,891, sedangkan pada alel didapatkan ρ value 0,000; OR 8,027 ; CI 95%  3,228 - 19,962.Disimpulkan ada hubungan antara genotip dan alel polimorfisme gen p53 codon 72 dengan kejadian kanker serviks.

scholarly journals IL17F: A Possible Risk Marker for Spondyloarthritis in HLA-B*27 Negative Brazilian Patients

2021 ◽  
Vol 11 (6) ◽  
pp. 520
Author(s):  
Janisleya Silva Ferreira Neves ◽  
Jeane Eliete Laguila Visentainer ◽  
Denise Manjurma da Silva Reis ◽  
Marco Antonio Rocha Loures ◽  
Hugo Vicentin Alves ◽  
...  
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Chi Square ◽  
Vdr Gene ◽  
Potential Marker ◽  
Vdr Gene Polymorphisms ◽  
Inheritance Model ◽  
Pcr Rflp ◽  
Control Study ◽  
Important Marker

HLA-B*27 is an important marker for spondyloarthritis (SpA), however, many SpA patients are HLA-B*27 negative. Thus, the aim of this study was to investigate the influence of IL17, TNF and VDR gene polymorphisms in SpA patients who were HLA-B*27 negative. This case-control study was conducted in 158 patients [102 patients with ankylosing spondylitis (AS) and 56 with psoriatic arthritis (PsA)] and 184 controls. HLA-B*27 genotyping was performed using PCR-SSP and IL17A (rs2275913), IL17F (rs763780), TNF-308 (rs1800629), TNF-238 (rs361525), FokI C>T (rs2228570), TaqI C>T (rs731236), ApaI A>C (rs7975232), and BsmI C>T (rs1544410) using PCR-RFLP. Statistical analyses were performed by Chi-square and logistic regression using OpenEpi and SNPStats software. The IL17F C allele frequency was higher in patients with SpA, AS and PsA compared to controls. The IL17F T/C genotype frequency was higher in SpA patients in an overdominant inheritance model and when men and women were separately analyzed. IL17A_IL17F AC haplotype was significantly associated to the risk for SpA patients. As for VDR, the ApaI a/a was a potential risk factor for SpA in men. In conclusion, IL17F C variant contributed to the risk of SpA in Brazilian patients who were HLA-B*27 negative and could be a potential marker for SpA.

scholarly journals The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Chinese Han population: a case-control study

2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Knee Oa ◽  
Reverse Transcription Pcr ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Control Study

Abstract Background: This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population.Methods: We extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative reverse transcription PCR (qRT-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene polymorphism.Results: We found that the IL-6 polymorphism rs12700386 enhanced patient susceptibility to developing knee OA. Based on a subgroup analysis, the risk of developing knee OA was elevated in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking, drinking, and having the rs12700386 genotype led to an increase in the risk of developing knee OA, indicating that an underlying interaction between gene and environment exists. The rs12700386 genotype was found to be correlated with an increase in IL-6 expression. We also found that IL-6 levels were significantly higher in the CC genotype compared to the GG genotype carriers in OA patients.Conclusion: These data suggest that the rs12700386 polymorphism in the IL-6 gene leads to an increase in the risk of knee OA in Chinese Han individuals.

Sign in / Sign up

Export Citation Format

Share Document