Human Heredity最新文献_第5页

Front & Back Matter 正面和背面

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-03-01 DOI: 10.1159/000507067

引用次数: 0

Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects. 英国生物库受试者中 ACE2 和 TMPRSS2 基因的变异并非 COVID-19 严重程度的主要决定因素。

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-03-22 DOI: 10.1159/000515200

David Curtis

{"title":"Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects.","authors":"David Curtis","doi":"10.1159/000515200","DOIUrl":"10.1159/000515200","url":null,"abstract":"It is plausible that variants in the ACE2 and TMPRSS2 genes might contribute to variation in COVID-19 severity and that these could explain why some people become very unwell whereas most do not. Exome sequence data was obtained for 49,953 UK Biobank subjects, of whom 82 had tested positive for SARS-CoV-2 and could be presumed to have severe disease. A weighted burden analysis was carried out using SCOREASSOC to determine whether there were differences between these cases and the other sequenced subjects in the overall burden of rare, damaging variants in ACE2 or TMPRSS2. There were no statistically significant differences in weighted burden scores between cases and controls for either gene. There were no individual DNA sequence variants with a markedly different frequency between cases and controls. Whether there are small effects on severity, or whether there might be rare variants with major effect sizes, would require studies in much larger samples. Genetic variants affecting the structure and function of the ACE2 and TMPRSS2 proteins are not the main explanation for why some people develop severe symptoms in response to infection with SARS-CoV-2. This research was conducted using the UK Biobank Resource.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 2","pages":"66-68"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/c6/hhe-0001.PMC8089417.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25517295","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

Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21. 亚甲基四氢叶酸还原酶二聚体配置是母体减数分裂衍生的21三体的危险因素。

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-03-30 DOI: 10.1159/000515121

Jadranka Vraneković, Ivana Babić Božović, Iva Bilić Čače, Bojana Brajenović Milić

{"title":"Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21.","authors":"Jadranka Vraneković, Ivana Babić Božović, Iva Bilić Čače, Bojana Brajenović Milić","doi":"10.1159/000515121","DOIUrl":"https://doi.org/10.1159/000515121","url":null,"abstract":"Background: Evidence suggests that the dimer configuration of methylenetetrahydrofolate reductase (MTHFR) enzyme might be destabilized by polymorphisms in monomers at the positions C677T and A1298C. It has been observed that these polymorphisms may lead to stable (CCAA, CCAC, CCCC) and unstable (CTAA, CTAC, TTAA) enzyme dimer configurations.Objective: The aim of this study was to evaluate the association of the MTHFR enzyme dimer configuration and folate dietary intake with the stage of meiotic nondisjunction in mothers of children with maternally derived trisomy 21.Methods: A total of 119 mothers of children with maternally derived free trisomy 21 were included in the study. The mean maternal age at the time of the birth of the child with trisomy 21 was 32.3 ± 6.4 (range 16-43) years. All mothers were Caucasian. Parental origin of trisomy 21 and meiotic stage of nondisjunction was determined using short tandem repeat markers spanning from the centromere to the telomere of chromosome 21q. The MTHFR C677T and A1298C polymorphism was evaluated by PCR-RFLP.Results: Increased frequency of the MTHFR genotype combinations CTAA, CTAC, and TTAA was found in the group of mothers with meiosis I (MI) nondisjunction (p = 0.007). No differences were found between study participants regarding dietary and lifestyles habits.Conclusion: The risk for MI nondisjunction of chromosome 21 was 4.6-fold higher in cases who had CTAA, CTAC, and TTAA MTHFR genotype combinations and who did not used folic acid supplements in the preconception period.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 2","pages":"61-65"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515121","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25531121","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: 4

Voltage-Gated Sodium Channel β1 Gene: An Overview. 电压门控钠通道β1基因研究进展

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-05-26 DOI: 10.1159/000516388

Hisham Al-Ward, Chun-Yang Liu, Ning Liu, Fahmi Shaher, Murad Al-Nusaif, Jing Mao, Hui Xu

引用次数: 3

49th European Mathematical Genetics Meeting (EMGM) 2021. 第49届欧洲数学遗传学会议(EMGM) 2021。

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-04-20 DOI: 10.1159/000516194

Emmanuelle Génin

引用次数: 1

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family. 一个摩洛哥家庭中与x连锁耳聋相关的AIFM1基因新突变

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-01-22 DOI: 10.1159/000512712

Soukaina Elrharchi, Zied Riahi, Sara Salime, Hicham Charoute, Lamiae Elkhattabi, Redouane Boulouiz, Mostafa Kabine, Crystel Bonnet, Christine Petit, Abdelhamid Barakat

引用次数: 7

Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome. 一例Klinefelter综合征患者听力损失的基因GJB2/MYO7A遗传

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-06-30 DOI: 10.1159/000516854

Qin Zhang, Tiantian Qin, Wenmu Hu, Muhammad Usman Janjua, Ping Jin

{"title":"Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome.","authors":"Qin Zhang, Tiantian Qin, Wenmu Hu, Muhammad Usman Janjua, Ping Jin","doi":"10.1159/000516854","DOIUrl":"https://doi.org/10.1159/000516854","url":null,"abstract":"Objectives: Nonsyndromic hearing loss (NSHL) is the most frequent type of hereditary hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three-generation family using whole-exome sequencing. The proband had concomitant NSHL and rare 48,XXYY Klinefelter syndrome.Material and methods: Genomic DNA was extracted from the peripheral blood of the proband and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the variants was analyzed using bioinformatics software.Results: The proband was digenic heterozygous for p.V37I in the GJB2 gene and p.L347I in the MYO7A gene. The proband's mother had normal hearing and did not have any variant. The proband's father and uncle both had NSHL and were compound for the GJB2 p.V37I and MYO7A p.L347I variants, thus indicating a possible GJB2/MYO7A digenic inheritance of NSHL. 48,XXYY Klinefelter syndrome was discovered in the proband after the karyotype analysis, while his parents both had normal karyotypes.Conclusions: Our findings reported a putative GJB2/MYO7A digenic inheritance form of hearing loss, expanding the genotype and phenotype spectrum of NSHL. In addition, this is the first report of concomitant NSHL and 48,XXYY syndrome.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 3-6","pages":"117-124"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000516854","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39124543","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

Multiple Linear Regression Allows Weighted Burden Analysis of Rare Coding Variants in an Ethnically Heterogeneous Population. 多元线性回归允许加权负担分析罕见的编码变异在种族异质人群。

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-01-07 DOI: 10.1159/000512576

David Curtis

{"title":"Multiple Linear Regression Allows Weighted Burden Analysis of Rare Coding Variants in an Ethnically Heterogeneous Population.","authors":"David Curtis","doi":"10.1159/000512576","DOIUrl":"https://doi.org/10.1159/000512576","url":null,"abstract":"Weighted burden analysis has been used in exome-sequenced case-control studies to identify genes in which there is an excess of rare and/or functional variants associated with phenotype. Implementation in a ridge regression framework allows simultaneous analysis of all variants along with relevant covariates, such as population principal components. In order to apply the approach to a quantitative phenotype, a weighted burden score is derived for each subject and included in a linear regression analysis. The weighting scheme is adjusted in order to apply differential weights to rare and very rare variants and a score is derived based on both the frequency and predicted effect of each variant. When applied to an ethnically heterogeneous dataset consisting of 49,790 exome-sequenced UK Biobank subjects and using body mass index as the phenotype, the method produces a very inflated test statistic. However, this is almost completely corrected by including 20 population principal components as covariates. When this is done, the top 30 genes include a few which are quite plausibly associated with the phenotype, including LYPLAL1 and NSDHL. This approach offers a way to carry out gene-based analyses of rare variants identified by exome sequencing in heterogeneous datasets without requiring that data from ethnic minority subjects be discarded. This research has been conducted using the UK Biobank Resource.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 1","pages":"1-10"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512576","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38794145","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: 16

Combined Genotype Effects of TP53 and PAI-1 Polymorphisms in Breast Cancer Susceptibility: Multifactor Dimensionality Reduction and in silico Analysis. 乳腺癌易感性中TP53和PAI-1多态性的联合基因型效应:多因素降维和计算机分析。

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-03-18 DOI: 10.1159/000514398

Nasser Pouladi, Mojtaba Shavali, Sepehr Abdolahi

{"title":"Combined Genotype Effects of TP53 and PAI-1 Polymorphisms in Breast Cancer Susceptibility: Multifactor Dimensionality Reduction and in silico Analysis.","authors":"Nasser Pouladi, Mojtaba Shavali, Sepehr Abdolahi","doi":"10.1159/000514398","DOIUrl":"https://doi.org/10.1159/000514398","url":null,"abstract":"Introduction: Breast cancer is a heterogeneous and multifactorial disease. TP53 and PAI-1 as important tumor suppressor genes are involved in the development, invasion, and metastasis of many cancers. This study's objective was to demonstrate the combined genotype effects of these 2 genes by investigating their single nucleotide polymorphisms.Methods: In this case-control study, 200 individuals with breast cancer and 179 healthy individuals were studied. The genotypes were determined using the tetra-ARMS method. For data analysis, MDR, online javstat statistics package, and SPSS v.24 software were used. Also, in silico studies on the estimated effects of each of these polymorphisms were performed.Results: We showed a novel gene-gene interaction of these 2 genes and demonstrated a strong synergistic interaction for TP53/PAI-1, moderate synergistic interaction for PAI-1/age, and correlation for TP53/age. On the other hand, there was no association between the allelic and genotype frequency alone and in combination, with case-control status, using the parametric method, between TP53 and PAI-1.Discussion/conclusion: Our findings suggest that the polymorphism of codon 72 of the TP53 gene was significantly associated with tumor stage (p < 0.023). In conclusion, we showed a gene-gene interaction between TP53 and PAI-1, in combination, using the MDR method.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 2","pages":"51-60"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000514398","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25493287","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: 4

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population. 深圳人群葡萄糖-6-磷酸脱氢酶缺乏的分子特征。

IF 1.8 4区生物学

Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-06-16 DOI: 10.1159/000516808

Jian Gao, Sheng Lin, Shiguo Chen, Qunyan Wu, Kaifeng Zheng, Jindi Su, Zhaopeng Guo, Shan Duan

{"title":"Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.","authors":"Jian Gao, Sheng Lin, Shiguo Chen, Qunyan Wu, Kaifeng Zheng, Jindi Su, Zhaopeng Guo, Shan Duan","doi":"10.1159/000516808","DOIUrl":"https://doi.org/10.1159/000516808","url":null,"abstract":"Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed to characterize the G6PD gene variant distribution in Shenzhen of Guangdong province.Methods: A total of 33,562 individuals were selected at the hospital for retrospective analysis, of which 1,213 cases with enzymatic activity-confirmed G6PD deficiency were screened for G6PD gene variants. Amplification refractory mutation system PCR was first used to screen the 6 dominant mutants in the Chinese population (c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, c.392G>T, and c.871G>A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations.Results: The incidence of G6PD deficiency in this study was 3.54%. A total of 26 kinds of mutants were found in the coding region, except for c.-8-624T>C, which was in the noncoding region. c.1376G>T and c.1388G>A, both located in exon 12, were the top 2 mutants, accounting for 68.43% of all individuals. The 6 hotspot mutations had a cumulative proportion of 94.02%.Conclusions: This study provided detailed characteristics of G6PD gene variants in Shenzhen, and the results would be valuable to enrich the knowledge of G6PD deficiency.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 3-6","pages":"110-116"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000516808","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39242539","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: 4