Human Heredity最新文献_第6页

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 1.1 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":"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":1.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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: 0

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

The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China 中国西北地区部分无精子症因子C缺失与男性不育症的关系

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-12-05 DOI: 10.1159/000504607

Chunlian Liu, Xinyang Zhao, Chunlan Mu, Hui Li, Jia Ma, Haiyan Jiao, Z. Huo

{"title":"The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China","authors":"Chunlian Liu, Xinyang Zhao, Chunlan Mu, Hui Li, Jia Ma, Haiyan Jiao, Z. Huo","doi":"10.1159/000504607","DOIUrl":"https://doi.org/10.1159/000504607","url":null,"abstract":"Background: Male infertility is a major health issue worldwide. Y chromosome microdeletions are well-characterized genetic causes of male infertility. The association of partial AZFc deletions (gr/gr, b2/b3, and b1/b3) with male infertility is not well confirmed in diverse populations. The purpose of the present study was to investigate the frequency of partial AZFc deletions and their association with male infertility in a population from Northwestern China. Methods: Multiplex polymerase chain reaction was used to detect partial AZFc deletions in 228 infertile patients. We analyzed 141 cases of azoospermia (AS), 87 cases of oligozoospermia (OS), and 200 fertile controls. Results: Our data showed that the frequency of a b2/b3 deletion in infertile men, men with AS, men with OS, and controls was 3.51, 2.13, 5.75, and 0.00%, respectively. The frequency of this deletion was significantly different between the infertile group and the control group (3.51 vs. 0.00%, respectively, p = 0.021) and between the OS group and the control group (5.75 vs. 0.00%, respectively, p = 0.003). The frequency of a gr/gr deletion in each group was 11.84, 9.22, 16.09, and 7.50%, respectively. The frequency of a gr/gr deletion was significantly different between the OS group and the control group (16.09 vs. 7.50%, respectively, p = 0.026) but not between the infertile group and the control group (11.84 vs. 7.50%, p = 0.132) or the AS group and the control group (9.22 vs. 7.50%, p = 0.569). The frequency of a b1/b3 deletion was 0.44, 0.71, 0.00, and 3.00%, respectively. For this deletion, there was no significant difference between the infertile (0.44 vs. 3.00%, p = 0.089), AS (0.71 vs. 3.00%, p = 0.276), and OS groups (0.00 vs. 3.00%, p = 0.236) and the control group. Conclusions: Our results suggest that the b2/b3 deletion might be associated with male infertility and that the gr/gr deletion might be associated with spermatogenic failure in men with OS in Northwestern China (Ningxia).","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"144 - 150"},"PeriodicalIF":1.8,"publicationDate":"2019-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000504607","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43775676","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: 3

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness MET基因在非综合征性常染色体隐性耳聋中的作用的进一步证据

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-12-04 DOI: 10.1159/000503450

A. Bousfiha, Zied Riahi, L. Elkhattabi, A. Bakhchane, H. Charoute, K. Snoussi, C. Bonnet, C. Petit, A. Barakat

{"title":"Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness","authors":"A. Bousfiha, Zied Riahi, L. Elkhattabi, A. Bakhchane, H. Charoute, K. Snoussi, C. Bonnet, C. Petit, A. Barakat","doi":"10.1159/000503450","DOIUrl":"https://doi.org/10.1159/000503450","url":null,"abstract":"Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, we identified a novel homozygous missense mutation in the METgene causing a non-syndromic hearing impairment DFNB97 form. Whole-exome sequencing was performed to determine the genetic causes of hearing loss in a Moroccan consanguineous family with an affected daughter. The structural analysis of native and mutant in the SEMA domain of the MET receptor was investigated using a molecular dynamics simulation (MDS) approach. We identified a novel pathogenic homozygous c.948A>G (p.Ile316Met) mutation in the MET gene in one deaf Moroccan young girl carrying a total bilateral non-syndromic hearing impairment. The results of the MDS approach show that an Ile316Met mutation in the SEMA domain leads to protein flexibility loss. This may produce a major impact on the structural conformation of the MET receptor, which also affects the function and binding site of the receptor. This is the first time that a mutation in the MET gene is described in a Moroccan family. Moreover, this study reports the second family in the world associating deafness and mutation in the MET gene.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"109 - 116"},"PeriodicalIF":1.8,"publicationDate":"2019-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000503450","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45141443","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: 5

Front & Back Matter 正面和背面

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-11-01 DOI: 10.1159/000504896

Redaksi Redaksi

引用次数: 0

Influence of Estrogen Receptor Alpha Polymorphism on Bone Mineral Density in Iranian Children 雌激素受体α多态性对伊朗儿童骨密度的影响

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-10-25 DOI: 10.1159/000502230

N. Montazeri-Najafabady, M. Dabbaghmanesh, Rajeeh Mohammadian Amiri, Zahra Mirzai

{"title":"Influence of Estrogen Receptor Alpha Polymorphism on Bone Mineral Density in Iranian Children","authors":"N. Montazeri-Najafabady, M. Dabbaghmanesh, Rajeeh Mohammadian Amiri, Zahra Mirzai","doi":"10.1159/000502230","DOIUrl":"https://doi.org/10.1159/000502230","url":null,"abstract":"Background: Bone mass acquisition in childhood is directly linked to adult bone mineral density (BMD) and fracture risk. BMD is a heritable trait, more than 70% of its variability among a population is affected by genetic factors. Objectives: In the present study, we wanted to investigate the association between estrogen receptor alpha (ESR1) polymorphisms, PvuII (rs2234693) and XbaI (rs9340799), and bone area, bone mineral content (BMC), and BMD of the lumbar spine, femoral neck, and also of the total body less the head in Iranian children. Methods: The ESR1 gene PvuII and XbaI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. Bone area, BMC, BMD, and bone mineral apparent density (BMAD) were assessed by dual-energy X-ray absorptiometry (DEXA). Linear regression was carried out to examine the effects of the ESR1 (PvuII and XbaI) polymorphisms on DEXA outputs when adjusted for confounding factors (i.e., age, sex, BMI, and pubertal stage) in 3 models. Results: ESR1 (PvuII) gene polymorphisms (CT vs. CC) showed significant effects on the BMC of the total body less the head in all 3 models. For ESR1 (XbaI), individuals with the AG genotype had higher lumbar spine BMD and lumbar spine BMAD compared to other genotypes. Conclusions: It seems that the PvuII and XbaI polymorphisms of ESR1 could be associated with BMC and BMD variation in Iranian children and adolescents.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"82 - 89"},"PeriodicalIF":1.8,"publicationDate":"2019-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000502230","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47102739","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: 5

Front & Back Matter 正面和背面

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-09-01 DOI: 10.1159/000503430

W. Wiersinga, G. Kahaly, V. Blanchette, L. Brandão, V. Breakey, S. Revel-Vilk

引用次数: 0