Combined Genotype Effects of < b > < i > TP53 < /i > < /b > and < b > < i > PAI-1 < /i > < /b > Polymorphisms in Breast Cancer Susceptibility: Multifactor Dimensionality Reduction and in silico Analysis
Conclusion: Our findings suggest that the polymorphism of codon 72 of theTP53 gene was significantly associated with tumor stage (p #x3c; 0.023). In conclusion, we showed a gene-gene interaction betweenTP53 andPAI-1, in combination, using the MDR method.Hum Hered (Source: Human Heredity)
Source: Human Heredity - March 18, 2021 Category: Genetics & Stem Cells Source Type: research
HLA Profile of Kami Population Refutes the Earlier Proposition of Exclusive Closer Genetic Affinity of All the Gorkhas to Mongoloids
Conclusion: The study refutes the earlier proposition of exclusive belongingness of all the Gorkhas to Mongoloids.Hum Hered (Source: Human Heredity)
Source: Human Heredity - February 16, 2021 Category: Genetics & Stem Cells Source Type: research
Challenges of Adjusting Single-Nucleotide Polymorphism Effect Sizes for Linkage Disequilibrium
Conclusions: There is no simple answer to the question which method is best, but where interpretability of the LD adjustment is essential, as in research aiming at identifying the genomic aetiology of disorders, our study suggests that a more direct choice of mild regularisation in the correction of effect sizes may be preferable.Hum Hered (Source: Human Heredity)
Source: Human Heredity - February 12, 2021 Category: Genetics & Stem Cells Source Type: research
Identification of Influential Variants in Significant Aggregate Rare Variant Tests
We present a novel method for prioritization of rare variants after a significant aggregate test by quantifying the influence of the variant on the aggregate test of association.Methods: In addition to providing a measure used to rank variants, we use outlier detection methods to present the computationally efficient Rare Variant Influential Filtering Tool (RIFT) to identify a subset of variants that influence the disease association. We evaluated several outlier detection methods that vary based on the underlying variance measure: interquartile range (Tukey fences), median absolute deviation, and SD. We performed 1,000 si...
Source: Human Heredity - February 10, 2021 Category: Genetics & Stem Cells Source Type: research
Asbestos-Induced Lung Cancer-Associated SNP rs13383928 Regulates < b > < i > PTH2R < /i > < /b > Expression in Lung Tissue
Conclusion: Our functional genomics evidence supports a link between rs13383928 and asbestos-related lung cancer through regulatingPTH2R.Hum Hered (Source: Human Heredity)
Source: Human Heredity - February 5, 2021 Category: Genetics & Stem Cells Source Type: research
Novel Mutation in < b > < i > AIFM1 < /i > < /b > Gene Associated with X-Linked Deafness in a Moroccan Family
Conclusion: To our knowledge, this is the first study that identifies a mutation in theAIFM1 gene in Moroccan patients suffering from X-linked auditory neuropathy.Hum Hered (Source: Human Heredity)
Source: Human Heredity - January 22, 2021 Category: Genetics & Stem Cells Source Type: research
Multiple Linear Regression Allows Weighted Burden Analysis of Rare Coding Variants in an Ethnically Heterogeneous Population
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 de...
Source: Human Heredity - January 7, 2021 Category: Genetics & Stem Cells Source Type: research
Contents Vol. 84, 2019
Hum Hered 2019;84:I –IV (Source: Human Heredity)
Source: Human Heredity - November 12, 2020 Category: Genetics & Stem Cells Source Type: research
A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis
Conclusion: This finding expands the spectrum of immunological and genetic profiles linked to RAG1 mutation, it also illustrates the necessity to consider RAG1 immunodeficiency in the presence of autoimmune hemolytic anemia and CMV infection, even assuming the immunological phenotype appears more or less normal.Hum Hered (Source: Human Heredity)
Source: Human Heredity - October 19, 2020 Category: Genetics & Stem Cells Source Type: research
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome)
Conclusion: Identified variants predictably lead to either the expression of a nonfunctional enzyme due to partial loss of SD1 and complete loss of SD2 subdomains or a complete lack of the IDS enzyme as a result of nonsense-mediated mRNA decay. Our study provides the first genetic depiction of MPS-II in Pakistan, expands the global IDS mutation spectrum, may provide insights into the three-dimensional structure of IDS, and should benefit the affected families in genetic counseling and prenatal diagnosis.Hum Hered (Source: Human Heredity)
Source: Human Heredity - October 19, 2020 Category: Genetics & Stem Cells Source Type: research
A Bayesian Hierarchical Framework for Pathway Analysis in Genome-Wide Association Studies
Conclusion: Our method can be helpful in detecting pathway association.Hum Hered (Source: Human Heredity)
Source: Human Heredity - September 23, 2020 Category: Genetics & Stem Cells Source Type: research
The Role of miR-210 in the Biological System: A Current Overview
Background: MicroRNAs (miRNAs) represent a group of non-coding RNAs measuring 19 –23 nucleotides in length and are recognized as powerful molecules that regulate gene expression in eukaryotic cells. miRNAs stimulate the post-transcriptional regulation of gene expression via direct or indirect mechanisms.Summary: miR-210 is highly upregulated in cells under hypoxia, thereby revealing its significance to cell endurance. Induction of this mRNA expression is an important feature of the cellular low-oxygen response and the most consistent and vigorous target of HIF.Key Message: miR-210 is involved in many cellular functions u...
Source: Human Heredity - September 9, 2020 Category: Genetics & Stem Cells Source Type: research
Power and Sample Size Calculations for Genetic Association Studies in the Presence of Genetic Model Misspecification
Conclusions: Understanding the impact of model misspecification can aid in study design and developing analysis plans that maximize power to detect a range of true underlying genetic effects. In particular, these calculations help identify when a multiple degree of freedom test or other robust test of association may be advantageous.Hum Hered (Source: Human Heredity)
Source: Human Heredity - July 28, 2020 Category: Genetics & Stem Cells Source Type: research
Publisher's Note
Hum Hered 2019;84:159 (Source: Human Heredity)
Source: Human Heredity - June 19, 2020 Category: Genetics & Stem Cells Source Type: research
Unbalanced Sample Size Introduces Spurious Correlations to Genome-Wide Heterozygosity Analyses
Excess of heterozygosity (H) is a widely used measure of genetic diversity of a population. As high-throughput sequencing and genotyping data become readily available, it has been applied to investigating the associations of genome-wide genetic diversity with human diseases and traits. However, these studies often report contradictory results. In this paper, we present a meta-analysis of five whole-exome studies to examine the association of H scores with Alzheimer ’s disease. We show that the mean H score of a group is not associated with the disease status, but ot is associated with the sample size. Across all five stu...
Source: Human Heredity - June 15, 2020 Category: Genetics & Stem Cells Source Type: research
