Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes
Conclusion: We have proposed a method for single rare variant analysis with binary phenotypes by logistic regression penalized by log-F priors. Our method has the advantage of being easily extended to correct for confounding due to population structure and genetic relatedness through a data augmentation approach.Hum Hered 2022;87:69 –86 (Source: Human Heredity)
Source: Human Heredity - June 29, 2022 Category: Genetics & Stem Cells Source Type: research
Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes
Conclusion:
We have proposed a method for single rare variant analysis with binary phenotypes by logistic regression penalized by log-F priors. Our method has the advantage of being easily extended to correct for confounding due to population structure and genetic relatedness through a data augmentation approach. (Source: Human Heredity)
Source: Human Heredity - June 29, 2022 Category: Genetics & Stem Cells Source Type: research
Common Variants in Neuraminidase Genes Contribute to Predisposition to and Progression of Chronic Heart Failure
Conclusion: Our findings demonstrated the association between a series of variants in NEU2/NEU4 genes and the risk or prognosis of HF in the Han Chinese population. These data suggested an important role of NEU2 and NEU4 in the pathogenesis of HF.Hum Hered 2022;87:96 –101 (Source: Human Heredity)
Source: Human Heredity - June 28, 2022 Category: Genetics & Stem Cells Source Type: research
Common Variants in Neuraminidase Genes Contribute to Predisposition to and Progression of Chronic Heart Failure
Conclusion: Our findings demonstrated the association between a series of variants in NEU2/NEU4 genes and the risk or prognosis of HF in the Han Chinese population. These data suggested an important role of NEU2 and NEU4 in the pathogenesis of HF. (Source: Human Heredity)
Source: Human Heredity - June 28, 2022 Category: Genetics & Stem Cells Source Type: research
Common variants in Neuraminidases genes contribute to predisposition to and progression of chronic heart failure
Conclusion
Our findings demonstrated the association between a series of variants in NEU2/NEU4 genes and the risk or prognosis of HF in Han Chinese Population. These data suggested an important role of NEU2 and NEU4 in the pathogenesis of HF. (Source: Human Heredity)
Source: Human Heredity - June 28, 2022 Category: Genetics & Stem Cells Source Type: research
Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome
Conclusion: Our study expands the genotypic and phenotypic spectrum of type A insulin resistance syndrome. Awareness of the clinical features coupled withINSR gene screening is key to early detection and active intervention.Hum Hered 2022;87:60 –68 (Source: Human Heredity)
Source: Human Heredity - June 3, 2022 Category: Genetics & Stem Cells Source Type: research
Identification of a novel mutation in patients with type A insulin resistance syndrome
Conclusion: Our study expands the genotypic and phenotypic spectrum of type A insulin resistance syndrome. Awareness of the clinical features coupled with INSR gene screening is key to early detection and active intervention. (Source: Human Heredity)
Source: Human Heredity - June 3, 2022 Category: Genetics & Stem Cells Source Type: research
50th European Mathematical Genetics Meeting (EMGM) 2022
Hum Hered 2022;Vol.:1 –42 (Source: Human Heredity)
Source: Human Heredity - April 20, 2022 Category: Genetics & Stem Cells Source Type: research
The Mitochondrial tRNA < sup > Asp < /sup > T7561C, tRNA < sup > His < /sup > C12153T, and A12172G Mutations May Be Associated with Essential Hypertension in a Han Chinese Pedigree
Conclusions: Mitochondrial T7561C, C12153T, and A12172G mutations may lead to the failure in tRNAs metabolism and cause mitochondrial dysfunction that is responsible for hypertension. However, the homoplasmy form of mt-tRNA mutations, incomplete penetrance of hypertension suggests that T7561C, C12153T, and A12172G mutations are insufficient to produce the clinical phenotype; hence, other risk factors such as environmental factors, nuclear genes, and epigenetic modifications may contribute to the phenotypic manifestation of maternally inherited hypertension in this Chinese pedigree.Hum Hered 2022;87:51 –59 (Source: Human Heredity)
Source: Human Heredity - March 28, 2022 Category: Genetics & Stem Cells Source Type: research
The Mitochondrial tRNA < sup > Asp < /sup > T7561C, tRNA < sup > His < /sup > C12153T, and A12172G Mutations May Be Associated with Essential Hypertension in a Han Chinese Pedigree
Conclusions: Mitochondrial T7561C, C12153T, and A12172G mutations may lead to the failure in tRNAs metabolism and cause mitochondrial dysfunction that is responsible for hypertension. However, the homoplasmy form of mt-tRNA mutations, incomplete penetrance of hypertension suggests that T7561C, C12153T, and A12172G mutations are insufficient to produce the clinical phenotype; hence, other risk factors such as environmental factors, nuclear genes, and epigenetic modifications may contribute to the phenotypic manifestation of maternally inherited hypertension in this Chinese pedigree.Hum Hered (Source: Human Heredity)
Source: Human Heredity - March 28, 2022 Category: Genetics & Stem Cells Source Type: research
The mitochondrial tRNAAsp T7561C, tRNAHis C12153T and A12172G mutations may be associated with essential hypertension in a Han Chinese pedigree
Conclusions: Mitochondrial T7561C, C12153T and A12172G mutations may lead to the failure in tRNAs metabolism, and cause mitochondrial dysfunction that is responsible for hypertension. However, the homoplasmy form of mt-tRNA mutations, incomplete penetrance of hypertension suggest that T7561C, C12153T and A12172G mutations are insufficient to produce the clinical phenotype, hence, other risk factors such as environmental factors, nuclear genes and epigenetic modifications may contribute to the phenotypic manifestation of maternally inherited hypertension in this Chinese pedigree. (Source: Human Heredity)
Source: Human Heredity - March 28, 2022 Category: Genetics & Stem Cells Source Type: research
Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
Conclusion: The strongest association signal (p = 1.57 × 10–9) was observed nearBMP2K in one of the individual cohorts. Additional suggestive signals were observed near genes with plausible roles in tooth development in the meta-analysis, such asSLC4A4 which can influence enamel hypoplasia. Additional human genetic studies are needed to replicate these results and functional studies in model systems are needed to validate our findings.Hum Hered 2022;87:34 –50 (Source: Human Heredity)
Source: Human Heredity - February 16, 2022 Category: Genetics & Stem Cells Source Type: research
Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
Enamel hypoplasia causes reduction in the thickness of affected enamel and is one of the most common dental anomalies. This defect is caused by environmental and/or genetic factors that interfere with tooth formation, emphasizing the importance of investigating enamel hypoplasia on an epidemiological and genetic level. A genome-wide association of enamel hypoplasia was performed in multiple cohorts, overall comprising 7,159 individuals ranging in age from 7-82 years. Mixed-models were used to test for genetic association while simultaneously accounting for relatedness and genetic population structure. Meta-analysis was the...
Source: Human Heredity - February 16, 2022 Category: Genetics & Stem Cells Source Type: research
Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy
Conclusions: Our data indicated that mt-tRNA mutations may be the molecular basis for DCM, which shaded novel insight into the pathophysiology of DCM that was manifestated by mitochondrial dysfunction. (Source: Human Heredity)
Source: Human Heredity - January 6, 2022 Category: Genetics & Stem Cells Source Type: research
