Balkan journal of medical genetics : BJMG最新文献

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Association of VDR Gene Variant (rs1544410) with Type 2 Diabetes in a Pakistani Cohort. 巴基斯坦人群中VDR基因变异(rs1544410)与2型糖尿病的相关性

IF 0.6

Balkan journal of medical genetics : BJMG Pub Date : 2019-12-21 eCollection Date: 2019-12-01 DOI: 10.2478/bjmg-2019-0026

A Khan, S Khan, A Aman, Y Ali, M Jamal, B Rahman, M Ahmad, M Aasim, F Jalil, A A Shah

{"title":"Association of VDR Gene Variant (rs1544410) with Type 2 Diabetes in a Pakistani Cohort.","authors":"A Khan, S Khan, A Aman, Y Ali, M Jamal, B Rahman, M Ahmad, M Aasim, F Jalil, A A Shah","doi":"10.2478/bjmg-2019-0026","DOIUrl":"https://doi.org/10.2478/bjmg-2019-0026","url":null,"abstract":"The present study was designed to measure the mean values of body mass index (BMI), random blood sugar/ fast ing blood sugar (RBS/FBS) tests, and Hb A1c and to investigate the role of a genetic variant rs1544410 in the VDR gene in a Pakistani cohort. For this purpose, a total of 917 samples including 469 diabetes mellitus type 2 (T2DM), 145 DM type 1 (T1DM), and 303 healthy control were collected. Out of the total sample set, 500 individuals (250 T2DM cases and 250 controls) were genotyped for rs1544410. It was found that 65 (26.0%) cases and 32 (12.8%) controls had homozygous AA, while 69 (27.6%) cases and 139 (55.6%) controls had heterozygous AG, and 116 (46.4%) cases and 79 (31.6%) controls had homozygous GG (χ2 = 41.81, p = 0.0001). In addition, a similar distribution of allele frequency was determined in cases and controls [p value = 0.866; odds ratio (OR) = 0.967; relative risk (RR) = 1.034]. A significant difference was observed in homozygous dominant [OR = 2.394 (1.501-3.816); RR = 1.46 (1.225-1.740); p = 0.003] and homozygous recessive models [OR = 2.970 (2.086-4.227); RR = 1.798 (1.501-2.154); p = <0.0001] analysis of rs1544410 in the VDR gene. These findings suggest that the VDR gene is associated with T2DM and genotype GG of genetic variant rs1544410 is the susceptible genotype in our Pakistani cohort.","PeriodicalId":520567,"journal":{"name":"Balkan journal of medical genetics : BJMG","volume":" ","pages":"59-64"},"PeriodicalIF":0.6,"publicationDate":"2019-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/36/68/bjmg-22-059.PMC6956633.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37547907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

TWIST1 Gene Expression as a Biomarker for Predicting Primary Doxorubicin Resistance in Breast Cancer. TWIST1基因表达作为预测乳腺癌原发性阿霉素耐药的生物标志物

IF 0.6

Balkan journal of medical genetics : BJMG Pub Date : 2019-12-21 eCollection Date: 2019-12-01 DOI: 10.2478/bjmg-2019-0025

S Demir, M H Müslümanoğlu, M Müslümanoğlu, S Başaran, Z Z Çalay, A Aydıner, U Vogt, T Çakır, H Kadıoğlu, S Artan

{"title":"TWIST1 Gene Expression as a Biomarker for Predicting Primary Doxorubicin Resistance in Breast Cancer.","authors":"S Demir, M H Müslümanoğlu, M Müslümanoğlu, S Başaran, Z Z Çalay, A Aydıner, U Vogt, T Çakır, H Kadıoğlu, S Artan","doi":"10.2478/bjmg-2019-0025","DOIUrl":"https://doi.org/10.2478/bjmg-2019-0025","url":null,"abstract":"Doxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Twenty-six primary breast tumor samples taken from 26 different breast cancer patients were included in this study. Adenosine triphosphate tumor chemo-sensitivity assay (ATP-TCA) has been used to determine tumor response to doxorubicin and real-time reverse-transcription polymerase chain reaction (RT-PCR) was used for analyzing the TWIST1 gene expression of tumors. There was a significant difference in TWIST gene expression between responder and non responder tumors (p <0.05). The TWIST gene expression of the drug-resistant group was higher than the responsive group. This difference was not dependent on the histopathological features of tumors. In conclusion, compatible with earlier studies that have been performed with cell lines, the current study supports the role of higher TWIST gene expression as a biomarker for predicting the response of breast tumors to chemo-therapeutic agent doxorubicin.","PeriodicalId":520567,"journal":{"name":"Balkan journal of medical genetics : BJMG","volume":" ","pages":"25-30"},"PeriodicalIF":0.6,"publicationDate":"2019-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5e/64/bjmg-22-025.PMC6956638.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37547903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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