Annals of Human Genetics最新文献

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Association between cholelithiasis, cholecystectomy, and risk of breast and gynecological cancers: Evidence from meta-analysis and Mendelian randomization study 胆石症、胆囊切除术与乳腺癌和妇科癌症风险之间的关系:来自荟萃分析和孟德尔随机研究的证据。
IF 1 4区 生物学
Annals of Human Genetics Pub Date : 2024-07-11 DOI: 10.1111/ahg.12573
Jing Peng, Lianghua Li, Huai Ning, Xiaocheng Li
{"title":"Association between cholelithiasis, cholecystectomy, and risk of breast and gynecological cancers: Evidence from meta-analysis and Mendelian randomization study","authors":"Jing Peng,&nbsp;Lianghua Li,&nbsp;Huai Ning,&nbsp;Xiaocheng Li","doi":"10.1111/ahg.12573","DOIUrl":"10.1111/ahg.12573","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Observational studies have shown that cholelithiasis and cholecystectomy are associated with the risk of breast cancer (BC) and gynecological cancers, but whether these relationships are causal has not been established and remains controversial.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Our study began with a meta-analysis that synthesized data from prior observational studies to examine the association between cholelithiasis, cholecystectomy, and the risk of BC and gynecological cancers. Subsequently, a two-sample Mendelian randomization (MR) analysis was conducted utilizing genetic variant data to investigate the potential causal relationship between cholelithiasis, cholecystectomy, and the aforementioned cancers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results of the meta-analysis demonstrated a significant association between cholecystectomy and the risk of BC (risk ratio [RR] = 1.04, 95% confidence interval [CI]: 1.01–1.06, <i>p</i> = 0.002) and endometrial cancer (EC) (RR = 1.26, 95% CI: 1.02–1.56, <i>p</i> = 0.031). Conversely, no significant association was observed between cholelithiasis and the risk of BC, EC, and ovarian cancer. The MR analysis revealed no discernible causal connection between cholelithiasis and overall BC (<i>p</i> = 0.053), as well as BC subtypes (including estrogen receptor-positive/negative). Similarly, there was no causal effect of cholecystectomy on BC risk (<i>p</i> = 0.399) and its subtypes. Furthermore, no causal associations were identified between cholelithiasis, cholecystectomy, and the risk of gynecological cancers (ovarian, endometrial, and cervical cancer [CC]) (all <i>p</i> &gt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study does not support a causal link between cholelithiasis and cholecystectomy and an increased risk of female cancers such as breast, endometrial, ovarian, and CC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141578843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long-distance athletes: A retrospective study 巴西长跑运动员中 ACTN3 基因 p.Arg577Ter 突变无效等位基因的患病率增加:一项回顾性研究。
IF 1 4区 生物学
Annals of Human Genetics Pub Date : 2024-07-01 DOI: 10.1111/ahg.12571
João Paulo Limongi França Guilherme, Edilamar Menezes Oliveira
{"title":"Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long-distance athletes: A retrospective study","authors":"João Paulo Limongi França Guilherme,&nbsp;Edilamar Menezes Oliveira","doi":"10.1111/ahg.12571","DOIUrl":"10.1111/ahg.12571","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The phenotypic consequences of the p.Arg577Ter variant in the α-actinin-3 (<i>ACTN3</i>) gene are suggestive of a trade-off between performance traits for speed and endurance sports. Although there is a consistent association of the c.1729C allele (aka R allele) with strength/power traits, there is still a debate on whether the null allele (c.1729T allele; aka X allele) influences endurance performance. The present study aimed to test the association of the <i>ACTN3</i> p.Arg577Ter variant with long-distance endurance athlete status, using previously published data with the Brazilian population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Genotypic data from 203 long-distance athletes and 1724 controls were analysed in a case–control approach.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The frequency of the X allele was significantly higher in long-distance athletes than in the control group (51.5% vs. 41.4%; <i>p </i>= 0.000095). The R/X and X/X genotypes were overrepresented in the athlete group. Individuals with the R/X genotype instead of the R/R genotype had a 1.6 increase in the odds of being a long-distance athlete (<i>p</i> = 0.012), whereas individuals with the X/X genotype instead of the R/R genotype had a 2.2 increase in the odds of being a long-distance athlete (<i>p</i> = 0.00017).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The X allele, mainly the X/X genotype, was associated with long-distance athlete status in Brazilians.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141465804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Population-genetic and comparative interpopulation studies of the 15 autosomal STR markers in the population living in the Northwest of Iran 伊朗西北部人口中 15 个常染色体 STR 标记的人口遗传学和种群间比较研究。
IF 1 4区 生物学
Annals of Human Genetics Pub Date : 2024-06-19 DOI: 10.1111/ahg.12564
Saeed Ghadimi Haddadan, Esmaeil Babaei, Mehrdad Setareh
{"title":"Population-genetic and comparative interpopulation studies of the 15 autosomal STR markers in the population living in the Northwest of Iran","authors":"Saeed Ghadimi Haddadan,&nbsp;Esmaeil Babaei,&nbsp;Mehrdad Setareh","doi":"10.1111/ahg.12564","DOIUrl":"10.1111/ahg.12564","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Iran, a country in the Middle East, has several ethnic and ethno-religious groups and needs its own ethnic-specific databases for the forensic statistical parameters and allele frequency of STR markers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We have investigated 600 unrelated Turk individuals from four northwestern provinces of Iran using the Identifiler™ system (TPOX, FGA, vWA, TH01, CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, and D21S11). Furthermore, STR allelic frequencies were compared to previously population-based data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results and conclusion</h3>\u0000 \u0000 <p>After Bonferroni correction, deviation from Hardy-Weinberg equilibrium (HWE) was observed in the FGA, TPOX, VWA, and D19S433 loci (<i>P</i> value &lt; 0.05). The combined power of discrimination (CPD) and exclusion (CPE) values for all 15 STR loci were 0.9999999999999999999984 and 0.9999999, respectively. In comparison with Azerbaijani and Turkish populations, there were no significant differences on all STR markers. However, in the Chinese Han population, differences at 13 STR loci were detected. Additionally, comparisons of Fischer genetic distance indices (FST) <i>P</i>-values did not reveal any statistically significant difference between Northwestern Iran, Azerbaijan and Iran (Fars) populations. PCA and PCoA analyses showed that our population was grouped with different populations in different quarters, showing a positive and negative correlation, respectively. In the NJ and UPGMA phylogenetic trees, Iranian populations were grouped together. These results demonstrated that the given set of STR markers can be confidently used for all identification tests in Northwestern Iran.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141417482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigating the effectiveness of forensic genetics and population genetic diversity using a multi-InDel system in Chinese Hezhou and Southern Shaanxi Han populations. 在中国贺州和陕南汉族人群中使用多InDel系统调查法医遗传学和群体遗传多样性的有效性。
IF 1.9 4区 生物学
Annals of Human Genetics Pub Date : 2024-05-20 DOI: 10.1111/ahg.12553
Xi Wang, Qiong Lan, Yifeng Lin, Xi Yuan, Shuyan Mei, Fanzhang Lei, Bonan Dong, Ming Zhao, Meiming Cai, Chunmei Shen, Bofeng Zhu
{"title":"Investigating the effectiveness of forensic genetics and population genetic diversity using a multi-InDel system in Chinese Hezhou and Southern Shaanxi Han populations.","authors":"Xi Wang, Qiong Lan, Yifeng Lin, Xi Yuan, Shuyan Mei, Fanzhang Lei, Bonan Dong, Ming Zhao, Meiming Cai, Chunmei Shen, Bofeng Zhu","doi":"10.1111/ahg.12553","DOIUrl":"https://doi.org/10.1111/ahg.12553","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple insertion-deletion (multi-InDel) has greater potential in forensic genetics than InDel, and its efficacy in kinship testing, individual identification, DNA mixture detection and ancestry inference remains to be explored.</p><p><strong>Methods: </strong>Consequently, we designed an efficient and robust system consisting of 41 multi-InDels to evaluate its efficacy in forensic applications in Chinese Hezhou Han (HZH) and Southern Shaanxi Han (SNH) populations and explore the genetic relationships between the SNH, HZH, and 26 reference populations.</p><p><strong>Results and conclusion: </strong>The obtained results showed that 38 out of the 41 multi-InDels had fairly high genetic variations. The the cumulative probability of discrimination and exclusion values of the multi-InDels (except MI38) in HZH and SNH populations both exceeded 1-e<sup>-25</sup> and 1-e<sup>-6</sup>, correspondingly. The genetic compositions of HZH and SNH individuals were similar to that of East Asians and the Naive Bayes model could well distinguish East Asians, Africans and Americans. These results indicated that the multi-InDel systerm can serve as an effective tool to provide important evidence for the development of multi-InDels in forensic practice and better analyse the genetic background of the Han Chinese populations.</p>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing 纳米印记:利用纳米孔长读数测序对常见印记疾病进行临床解释和诊断的 DNA 甲基化工具
IF 1 4区 生物学
Annals of Human Genetics Pub Date : 2024-05-01 DOI: 10.1111/ahg.12556
Caroline Hey Bækgaard, Emilie Boye Lester, Steffen Møller-Larsen, Mathilde Faurholdt Lauridsen, Martin Jakob Larsen
{"title":"NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing","authors":"Caroline Hey Bækgaard,&nbsp;Emilie Boye Lester,&nbsp;Steffen Møller-Larsen,&nbsp;Mathilde Faurholdt Lauridsen,&nbsp;Martin Jakob Larsen","doi":"10.1111/ahg.12556","DOIUrl":"10.1111/ahg.12556","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Long-read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5-methylcytosine, nanopore is a promising technology to improve diagnostics of imprinting disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Currently, no tools to analyze DNA methylation patterns at known clinically relevant imprinted regions are available. Here we present NanoImprint, which generates an easily interpretable report, based on long-read nanopore sequencing, to use for identifying clinical relevant abnormalities in methylation levels at 14 imprinted regions and diagnosis of common imprinting disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results and conclusion</h3>\u0000 \u0000 <p>NanoImprint outputs a summarizing table and visualization plots displays methylation frequency (%) and chromosomal positions for all regions, with phased data color-coded for the two alleles. We demonstrate the utility of NanoImprint using three imprinting disorder samples from patients with Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS) and Prader-Willi syndrome (PWS). NanoImprint script is available from https://github.com/carolinehey/NanoImprint.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.12556","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140829932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epithelial-mesenchymal transition dysregulation in prostate cancer: Insights from molecular unraveling and epidemiological analyses in Tunisia, North Africa. 前列腺癌的上皮-间质转化失调:从北非突尼斯的分子解析和流行病学分析中获得的启示。
IF 1.9 4区 生物学
Annals of Human Genetics Pub Date : 2024-04-25 DOI: 10.1111/ahg.12563
R. Said, Javier Hernández-Losa, Rosa Somoza Lopez de Haro, Teresa Moline, S. Zouari, A. Blel, S. Rammeh, A. Derouiche, S. Ouerhani
{"title":"Epithelial-mesenchymal transition dysregulation in prostate cancer: Insights from molecular unraveling and epidemiological analyses in Tunisia, North Africa.","authors":"R. Said, Javier Hernández-Losa, Rosa Somoza Lopez de Haro, Teresa Moline, S. Zouari, A. Blel, S. Rammeh, A. Derouiche, S. Ouerhani","doi":"10.1111/ahg.12563","DOIUrl":"https://doi.org/10.1111/ahg.12563","url":null,"abstract":"INTRODUCTION\u0000The progression of prostate cancer (PCa) has been linked worldwide, including in African populations, to the dysregulation of the epithelial-mesenchymal transition (EMT).\u0000\u0000\u0000METHODS\u0000To clarify the connection among EMT markers, clinicopathological parameters, and epidemiological factors, we analyzed 35 PCa specimens from patients in Tunisia, a country in North Africa, arranged by stages. We also carried out extensive molecular and epidemiological analyses.\u0000\u0000\u0000RESULTS\u0000Significant dysregulation of EMT genes was found, with an overexpression of ZEB-1, Twist, Snail-1, and Vimentin (p < 0.05) and underexpression of E-cadherin and β-catenin (p < 0.05). Positive correlations were observed between transcription factors and the mesenchymal marker Vimentin (p < 0.001, r = 0.574; p = 0.029, r = 0.411; and p < 0.001; r = 0.506) according to Spearman correlation analyses, whereas negative correlations were found between epithelial markers (E-cadherin, β-catenin) and Vimentin (p < 0.05; r < 0). Higher PSA, Gleason scores, and metastasis were all correlated with the dysregulation of EMT (p < 0.05). Notably, there was a positive correlation between higher consumption of tobacco (≥20 Packets per year) and Vimentin expression (p < 0.001, r = 0.854), suggesting a relationship between smoking and EMT activation in the Tunisian population. Moreover, Twist showed a positive correlation with diabetes (p < 0.001, r = 0.385), whereas no significant correlations were found between EMT markers and comorbidities such as hypertension and coronary insufficiency. These results demonstrate the intricate connection between molecular changes, epidemiological factors, and disease progression, and they emphasize the crucial role that EMT plays in promoting PCa aggressiveness in African populations, particularly in Tunisia.\u0000\u0000\u0000CONCLUSION\u0000In summary, understanding these correlations could help develop focused treatment plans and enhance patient outcomes for PCa management in African settings.","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140656883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Attention-deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2-repeat allele 注意缺陷/多动障碍和多巴胺受体 D4 (DRD4) 第 3 外显子串联重复序列 (VNTR) 2 重复等位基因
IF 1 4区 生物学
Annals of Human Genetics Pub Date : 2024-04-16 DOI: 10.1111/ahg.12560
Larry Baum, Chi Chiu Lee, Rui Ye, Yuanxin Zhong, Se Fong Hung, Chun Pan Tang, Ting Pong Ho, James M Swanson, Robert K Moyzis, Pak-Chung Sham, Patrick Wing-Leung Leung
{"title":"Attention-deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2-repeat allele","authors":"Larry Baum,&nbsp;Chi Chiu Lee,&nbsp;Rui Ye,&nbsp;Yuanxin Zhong,&nbsp;Se Fong Hung,&nbsp;Chun Pan Tang,&nbsp;Ting Pong Ho,&nbsp;James M Swanson,&nbsp;Robert K Moyzis,&nbsp;Pak-Chung Sham,&nbsp;Patrick Wing-Leung Leung","doi":"10.1111/ahg.12560","DOIUrl":"10.1111/ahg.12560","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 \u0000 <p>To investigate the association of attention-deficit/hyperactivity disorder (ADHD) with the 48-base pair (bp) variable number of tandem repeats (VNTR) in exon 3 of the dopamine receptor D4 (DRD4) gene, we genotyped 240 ADHD patients and their parents from Hong Kong. The 4R allele was most common, followed by 2R. We examined association between the 2R allele (relative to 4R) and ADHD by Transmission Disequilibrium Test (TDT). The odds ratio (OR) (95% confidence interval) was 0.90 (0.64–1.3). The <i>p</i>-value was 0.6. Examining subgroups revealed nominally significant association of 2R with inattentive ADHD: OR = 0.33 (0.12–0.92) and <i>p</i> = 0.03. Because our study used TDT analysis, we meta-analyzed the association of 2R with ADHD in Asians (1329 patient alleles), revealing results similar to ours: OR = 0.97 (0.80–1.2) and <i>p</i> = 0.8. To examine the association of 2R with inattentive ADHD, we meta-analyzed all studies (regardless of analysis type or ethnicity, in order to increase statistical power): 702 patient alleles, 1420 control alleles, OR = 0.81 (0.57–1.1) and <i>p</i> = 0.2. Overall, there is no evidence of association between ADHD and the 2R allele, but the suggestive association with the inattentive type warrants further investigation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.12560","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140578458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","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 variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population 北非人群中 CYP2A6、CYP2E1、GSTM1 和 GSTT1 基因的遗传变异与鼻咽癌的患病风险
IF 1.9 4区 生物学
Annals of Human Genetics Pub Date : 2024-04-15 DOI: 10.1111/ahg.12562
Imane EL Alami, Wafa Khaali, Majida Jalbout, Amina Gihbid, Wided Ben Ayoub, Abdellatif Benider, Selma Mohamed Brahim, Mokhtar Hamdi Cherif, Nadia Benchakroun, Mohammed El Mzibri, El Khalil Ben Driss, Khalid Belghmi, Marilys Corbex, Meriem Khyatti
{"title":"Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population","authors":"Imane EL Alami, Wafa Khaali, Majida Jalbout, Amina Gihbid, Wided Ben Ayoub, Abdellatif Benider, Selma Mohamed Brahim, Mokhtar Hamdi Cherif, Nadia Benchakroun, Mohammed El Mzibri, El Khalil Ben Driss, Khalid Belghmi, Marilys Corbex, Meriem Khyatti","doi":"10.1111/ahg.12562","DOIUrl":"https://doi.org/10.1111/ahg.12562","url":null,"abstract":"Nasopharyngeal carcinoma (NPC) is a multifactorial malignancy associated with both genetic and environmental factors. Polymorphic deletions of the phase I and phase II genes involved in the detoxification of potential carcinogens may be a risk factor for nasopharyngeal carcinoma. In this study, we investigated the relationship between <i>CYP2E1</i> (rs3813867), <i>CYP2A6, GSTM1</i>(rs1183423000) and <i>GSTT1</i>(rs1601993659) gene variations and NPC risk in North African countries with the highest incidence of NPC (Morocco, Algeria and Tunisia). and the evaluation of the potential use of these variants as potential biomarkers for NPC management.","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140578488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Need of the hour? Genetic and genomic testing referrals from primary healthcare centers with inclusion of precision medicine in Pakistan 当务之急?巴基斯坦初级医疗保健中心的基因和基因组检测转诊,并纳入精准医疗的内容
IF 1 4区 生物学
Annals of Human Genetics Pub Date : 2024-04-15 DOI: 10.1111/ahg.12561
Muhammad Osama Siddiqui, Rabeet Tariq, Raman Kumar, Saira Mansoor
{"title":"Need of the hour? Genetic and genomic testing referrals from primary healthcare centers with inclusion of precision medicine in Pakistan","authors":"Muhammad Osama Siddiqui,&nbsp;Rabeet Tariq,&nbsp;Raman Kumar,&nbsp;Saira Mansoor","doi":"10.1111/ahg.12561","DOIUrl":"10.1111/ahg.12561","url":null,"abstract":"","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics 从历史的角度看莱昂内尔-彭罗斯:科学家、遗传学家和优生学的坚定反对者
IF 1.9 4区 生物学
Annals of Human Genetics Pub Date : 2024-04-10 DOI: 10.1111/ahg.12551
Maria Kiladi
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