Genetics Research International最新文献

Prevalence of Some Genetic Risk Factors for Nicotine Dependence in Ukraine. 乌克兰尼古丁依赖的一些遗传危险因素的流行。

Genetics Research International Pub Date : 2019-10-20 eCollection Date: 2019-01-01 DOI: 10.1155/2019/2483270

Vitalina Bashynska, Alexander Koliada, Kateryna Murlanova, Oksana Zahorodnia, Yuliia Borysovych, Vladyslav Moseiko, Oleh Lushchak, Alexander Vaiserman

{"title":"Prevalence of Some Genetic Risk Factors for Nicotine Dependence in Ukraine.","authors":"Vitalina Bashynska, Alexander Koliada, Kateryna Murlanova, Oksana Zahorodnia, Yuliia Borysovych, Vladyslav Moseiko, Oleh Lushchak, Alexander Vaiserman","doi":"10.1155/2019/2483270","DOIUrl":"https://doi.org/10.1155/2019/2483270","url":null,"abstract":"Tobacco smoking is known to be a strong risk factor for developing many diseases. The development and severity of smoking dependence results from interaction of environmental and lifestyle factors, psycho-emotional predispositions, and also from genetic susceptibility. In present study, we investigated polymorphic variants in genes contributed to nicotine dependence, as well as to increased impulsivity, known to be an important risk factor for substance use disorders, in Ukraine population. The genotype frequencies at CYP2A6, DNMT3B, DRD2, HTR2A, COMT, BDNF, GABRA2, CHRNA5, and DAT1 polymorphisms were determined in 171 Ukraine residents, and these data were compared with data for several other European populations and main ethnic groups. It has been found that genotype frequencies for all studied loci are in Hardy-Weinberg equilibrium in the Ukrainian population and correspond to the respective frequencies in European populations. These findings suggest a similar impact of these loci on nicotine dependence in Ukraine. Further studies with larger sample sizes are, however, needed to draw firm conclusions about the effect size of these polymorphisms.","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2019 ","pages":"2483270"},"PeriodicalIF":0.0,"publicationDate":"2019-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/2483270","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37498688","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: 1

MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea 伊朗西北部靠近地中海地区正常人群MEFV基因变异等位基因分析

Genetics Research International Pub Date : 2019-08-18 DOI: 10.1155/2019/6418759

F. Salehzadeh, A. Sharghi, Atena Motayayagheni, S. Hosseini Asl, M. Mottaghi, Sepehr Sarkhanloo

{"title":"MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea","authors":"F. Salehzadeh, A. Sharghi, Atena Motayayagheni, S. Hosseini Asl, M. Mottaghi, Sepehr Sarkhanloo","doi":"10.1155/2019/6418759","DOIUrl":"https://doi.org/10.1155/2019/6418759","url":null,"abstract":"Background and Objective MEFV gene codes the pyrine protein that has major role in FMF as an autoinflammatory disorder. FMF is more often seen in the people of the Mediterranean area. Considering the significant role of MEFV gene in many rheumatologic diseases and even nonrheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area. Methods 224 healthy (unaffected or control) people based on the Cochran formula entered this study. The blood samples were screened for the 12 common MEFV gene variants polymorphisms according to manufacturer's instructions (FMF Strip Assay, Vienna lab, Vienna, Austria). They filled a questionnaire containing required information. All healthy control cases initially were evaluated for FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. All data were analyzed by simple statistical method. Results Among 224 healthy control cases, 113 (50.4%) were male and 111 (49.6%) female. There were MEFV variants alleles in 57 patients (25%): 28 were male (49.1%) and 29 female (50.9%). The most frequent variants were E148Q (18.3%), followed by P369S (3.1%), V726A (2.2%), A744S (1.3%), and F479L, M694V, and R761H (0.8%), and eventually K695R (0.4%), respectively. Some variants such as M694I, M680I (G/C), M680I (G/A), and I692del were not seen in these samples. There were compound heterozygote variations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S/F479L in normal population without any findings in favor of FMF. Conclusion Twenty-five percent of the normal populations of the northwest of Iran are carrying MEFV gene variants, and the most common mutation is E148Q (18.3%). The presence of M694I, M680I (G/C), M680I (G/A), I692del mutations in the normal population can be interpreted cautiously, while particular compound heterozygote mutations can be considered as normal variants.","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75837465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

Lack of Association between Variant rs7916697 in ATOH7 and Primary Open Angle Glaucoma in a Saudi Cohort. 沙特人群中ATOH7基因变异rs7916697与原发性开角型青光眼缺乏相关性

Genetics Research International Pub Date : 2018-11-01 eCollection Date: 2018-01-01 DOI: 10.1155/2018/2148056

Altaf A Kondkar, Taif A Azad, Faisal A Almobarak, Ibrahim M Bahabri, Hatem Kalantan, Khaled K Abu-Amero, Saleh A Al-Obeidan

{"title":"Lack of Association between Variant rs7916697 in ATOH7 and Primary Open Angle Glaucoma in a Saudi Cohort.","authors":"Altaf A Kondkar, Taif A Azad, Faisal A Almobarak, Ibrahim M Bahabri, Hatem Kalantan, Khaled K Abu-Amero, Saleh A Al-Obeidan","doi":"10.1155/2018/2148056","DOIUrl":"https://doi.org/10.1155/2018/2148056","url":null,"abstract":"A case-control genetic association study was performed to investigate whether variant rs7916697 in atonal bHLH transcription factor 7 (ATOH7), which has been previously reported to be associated with optic disc parameters and primary open angle glaucoma (POAG) in different ethnic groups, is a risk factor for POAG or any of its clinical phenotypes in a Saudi cohort. Genotyping of rs7916697 (G>A) variant was performed in 186 unrelated POAG cases and 171 unrelated nonglaucomatous controls of Saudi origin using real-time Taq-Man® assay. Genotypic and allelic association with POAG and its related clinical indices were evaluated. Demographic and systemic disease status did not differ significantly between POAG cases and controls. Association analysis between POAG cases and controls showed no significant genotype effect under additive (p=0.707), dominant (p=0.458), and recessive (p=0.554) models. Besides, the minor 'A' allele frequency was 0.39 in POAG cases and 0.36 in controls with no significant distribution (p=0.406). In addition, there was no significant difference between genotypes and clinical phenotypes such as intraocular pressure and cup/disc ratio within the POAG group, or any age and sex adjusted genotype effect on the disease outcome in regression analysis. Variant rs7916697 in ATOH7 is not associated with POAG or its clinical indices such as IOP and cup/disc ratio in a Saudi cohort.","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2018 ","pages":"2148056"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/2148056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36755703","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: 5

Phenotypic Nonspecificity as the Result of Limited Specificity of Transcription Factor Function. 转录因子功能的有限特异性导致表型非特异性。

Genetics Research International Pub Date : 2018-10-28 eCollection Date: 2018-01-01 DOI: 10.1155/2018/7089109

Anthony Percival-Smith

引用次数: 0

CRISPR/Cas9 System: A Bacterial Tailor for Genomic Engineering. CRISPR/Cas9系统：基因组工程的细菌裁缝。

Genetics Research International Pub Date : 2018-09-18 eCollection Date: 2018-01-01 DOI: 10.1155/2018/3797214

Bilal Ahmad Lone, Shibendra Kumar Lal Karna, Faiz Ahmad, Nerina Shahi, Yuba Raj Pokharel

引用次数: 0

Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples. 坦桑尼亚父子配对样本对17个Y染色体短串联重复位点突变率的分析。

Genetics Research International Pub Date : 2018-08-06 DOI: 10.1155/2018/8090469

Fidelis Charles Bugoye, Elias Mulima, Gerald Misinzo

{"title":"Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples.","authors":"Fidelis Charles Bugoye, Elias Mulima, Gerald Misinzo","doi":"10.1155/2018/8090469","DOIUrl":"10.1155/2018/8090469","url":null,"abstract":"Hundred unrelated father-son buccal swab sample pairs collected from consented Tanzanian population were examined to establish mutation rates using 17 Y-STRs loci DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and Y-GATA-H4 of the AmpFlSTRYfiler kit used in forensics and paternity testing. Prior to 17 Y-STRs analysis, father-son pair biological relationships were confirmed using 15 autosomal STRs markers and found to be paternally related. A total of four single repeat mutational events were observed between father and sons. Two mutations resulted in the gain of a repeat and the other two resulted in a loss of a repeat in the son. All observed mutations occurred at tetranucleotide loci DYS389II, DYS385a, and DYS385b. The locus specific mutation rate varied between 0 and 1.176 x10-3 and the average mutation rate of 17Y-STRs loci in the present study was 2.353x10-3 (6.41x10-4 - 6.013x10-3) at 95% CI. Furthermore the mean fathers' age with at least one mutation at son's birth was 32 years with standard error of 2.387 while the average age of all fathers without mutation in a sampled population at son's birth was 26.781 years with standard error of 0.609. The results shows that fathers' age at son's birth may have an effect on Y-STRs mutation rate analysis, though this age difference was statistically not significant using unpaired samples t-test (p = 0.05). As a consequence of observed mutation rates in this study, the precise and reliable understanding of mutation rate at Y-chromosome STR loci is necessary for a correct evaluation and interpretation of DNA typing results in forensics and paternity testing involving males. The criterion for exclusion in paternity testing should be defined, so that an exclusion from paternity has to be based on exclusion constellations at a minimum of two 17 Y-STRs loci.","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2018 ","pages":"8090469"},"PeriodicalIF":0.0,"publicationDate":"2018-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/8090469","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36451964","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: 5

Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia. 孟加拉成年急性髓性白血病患者遗传咨询格式的制定。

Genetics Research International Pub Date : 2018-04-29 eCollection Date: 2018-01-01 DOI: 10.1155/2018/1534090

M Z Rahman, L Nishat, Z A Yesmin, L A Banu

{"title":"Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia.","authors":"M Z Rahman, L Nishat, Z A Yesmin, L A Banu","doi":"10.1155/2018/1534090","DOIUrl":"https://doi.org/10.1155/2018/1534090","url":null,"abstract":"With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML) is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2018 ","pages":"1534090"},"PeriodicalIF":0.0,"publicationDate":"2018-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/1534090","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36182377","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

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology. 多囊卵巢综合症病理生理学中与高雄激素血症相关的遗传变异。

Genetics Research International Pub Date : 2018-02-18 eCollection Date: 2018-01-01 DOI: 10.1155/2018/7624932

Roshan Dadachanji, Nuzhat Shaikh, Srabani Mukherjee

{"title":"Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology.","authors":"Roshan Dadachanji, Nuzhat Shaikh, Srabani Mukherjee","doi":"10.1155/2018/7624932","DOIUrl":"10.1155/2018/7624932","url":null,"abstract":"Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits. However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits.","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2018 ","pages":"7624932"},"PeriodicalIF":0.0,"publicationDate":"2018-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36022357","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

Does i-T744C P2Y12 Polymorphism Modulate Clopidogrel Response among Moroccan Acute Coronary Syndromes Patients? i-T744C P2Y12多态性是否调节摩洛哥急性冠脉综合征患者的氯吡格雷反应?

Genetics Research International Pub Date : 2017-01-01 Epub Date: 2017-02-05 DOI: 10.1155/2017/9532471

Hind Hassani Idrissi, Wiam Hmimech, Nada El Khorb, Hafid Akoudad, Rachida Habbal, Sellama Nadifi

{"title":"Does i-T744C P2Y12 Polymorphism Modulate Clopidogrel Response among Moroccan Acute Coronary Syndromes Patients?","authors":"Hind Hassani Idrissi, Wiam Hmimech, Nada El Khorb, Hafid Akoudad, Rachida Habbal, Sellama Nadifi","doi":"10.1155/2017/9532471","DOIUrl":"https://doi.org/10.1155/2017/9532471","url":null,"abstract":"Background. An interindividual variability in response to Clopidogrel has been widely described in patients with acute coronary syndromes (ACS). The contribution of genetics on modulating this response was widely discussed. The objective of our study was to investigate the potential effect of i-T744C P2Y12 polymorphism on Clopidogrel response in a sample of Moroccan ACS patients. We tried also to determine the frequency of this polymorphism among Moroccan ACS compared to healthy subjects. Methods and Results. 77 ACS patients versus 101 healthy controls were recruited. DNA samples were genotyped by PCR-RFLP method. The VerifyNow assay was used to evaluate platelet function among ACS patients. Our results show that the mutant allele C was more frequent among ACS ST (+) than ST (-) patients (39% versus 19.8%, resp.), when the wild-type allele was more represented in the ACS ST (-) group (80.2%). The C allele frequency was higher among resistant than nonresistant patients (30% versus 20.8%, resp.). Comparison of ACS patients and healthy controls shows higher frequency of mutant C allele among cases compared to controls (22.73% versus 19.31%, resp.); there was a statistically significant association of the recessive and additive transmission models with the ACS development risk (OR [95% CI] = 1.78 [1.58-5.05], P = 0.01 and OR [95% CI] = 1.23 [0.74-2.03], P < 0.001, resp.), increasing thus the association of this polymorphism with the pathology. Conclusion. Our results suggest that this polymorphism may have a potential effect on Clopidogrel response among our Moroccan ACS patients and also on ACS development.","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2017 ","pages":"9532471"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/9532471","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34784039","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: 11

Genetic Variants in CSMD1 Gene Are Associated with Cognitive Performance in Normal Elderly Population. CSMD1基因变异与正常老年人认知能力相关

Genetics Research International Pub Date : 2017-01-01 Epub Date: 2017-12-12 DOI: 10.1155/2017/6293826

Vadim Stepanov, Andrey Marusin, Kseniya Vagaitseva, Anna Bocharova, Oksana Makeeva

引用次数: 9