Identification of < b > < i > CHEK2 < /i > < /b > Germline Mutations in < b > < i > BRCA1/2- < /i > < /b > and < b > < i > PALB2 < /i > < /b > -Negative Breast and Ovarian Cancer Patients
Conclusion: The present study may shed light on alternative variations that could be significant for understanding the prevalence and clinical suitability of theCHEK2 gene. (Source: Human Heredity)
Source: Human Heredity - January 6, 2022 Category: Genetics & Stem Cells Source Type: research
Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients
Conclusion: The present study may shed light on alternative variations that could be significant for understanding the prevalence and clinical suitability of the CHEK2 gene. (Source: Human Heredity)
Source: Human Heredity - January 6, 2022 Category: Genetics & Stem Cells Source Type: research
Family history of breast cancer is associated with elevated risk of prostate cancer: evidence for shared genetic risks
Conclusion: This st udy shows the inherent relation between prostate cancer and breast cancer; an incident of one in a family increases the risk of developing the other. The large difference between estimates of genetic correlation from distant and close relatives, if replicated, suggests that rare variants contribute to the shared genetic risk of breast and prostate cancer. However, the difference could steam from genotype-by-family effects shared between the two types of cancers. (Source: Human Heredity)
Source: Human Heredity - November 30, 2021 Category: Genetics & Stem Cells Source Type: research
Association of < b > < i > PNPLA3 < /i > < /b > I148M with Liver Disease Biomarkers in Latinos
Conclusion: Our findings provide additional evidence of an association ofPNPLA3 I148M with several liver disease biomarkers in male and female Latinos residing in the Southwest of the United States.Hum Hered (Source: Human Heredity)
Source: Human Heredity - November 8, 2021 Category: Genetics & Stem Cells Source Type: research
Association of PNPLA3 I148M with liver disease biomarkers in Latinos
Conclusion. Our findings provide additional evidence of an association of PNPLA3 I148M with several liver disease biomarkers in male and female Latinos residing in the Southwest of the United States. (Source: Human Heredity)
Source: Human Heredity - November 8, 2021 Category: Genetics & Stem Cells Source Type: research
Exome-Wide Pan-Cancer Analysis of Germline Variants in 8,719 Individuals Finds Little Evidence of Rare Variant Associations
Conclusions: Our results provide little evidence in favor of the rare variant hypothesis. Much larger sample sizes may be needed to detect undiscovered rare cancer variants.Hum Hered (Source: Human Heredity)
Source: Human Heredity - October 29, 2021 Category: Genetics & Stem Cells Source Type: research
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases
This report shows that pedigree analysis and WES are co-dependent processes in establishing diagnoses in a family with 4 different genetic disorders: Birt-Hogg-Dub é Syndrome,RRM2B-related mitochondrial disease,CDC73-related primary hyperparathyroidism, and familial prostate cancer.Hum Hered (Source: Human Heredity)
Source: Human Heredity - October 27, 2021 Category: Genetics & Stem Cells Source Type: research
Meta-Analysis of Joint Test of SNP and SNP-Environment Interaction with Heterogeneity
Many complex diseases are caused by single nucleotide polymorphisms (SNPs), environmental factors, and the interaction between SNPs and environment. Joint tests of the SNP and SNP-environment interaction effects (JMA) and meta-regression (MR) are commonly used to evaluate these SNP-environment interactions. However, these two methods do not consider genetic heterogeneity. We previously presented a random-effect MR, which provided higher power than the MR in datasets with high heterogeneity. However, this method requires group-level data, which sometimes are not available. Given this, we designed this study to evaluate the ...
Source: Human Heredity - October 26, 2021 Category: Genetics & Stem Cells Source Type: research
PhosSNPs-Regulated Gene Network and Pathway Significant for Rheumatoid Arthritis
Conclusions: The findings delineated a potential role of protein phosphorylation and genetic variations in RA and warranted the significant roles of phosSNPs in regulating RA-associated genes expression in PBMCs. The results pointed out the relevance and significance of oxidative phosphorylation pathway to RA.Hum Hered (Source: Human Heredity)
Source: Human Heredity - September 20, 2021 Category: Genetics & Stem Cells Source Type: research
Putative Digenic < b > < i > GJB2/MYO7A < /i > < /b > Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome
Conclusions: Our findings reported a putativeGJB2/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.Hum Hered (Source: Human Heredity)
Source: Human Heredity - June 30, 2021 Category: Genetics & Stem Cells Source Type: research
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population
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.Hum Hered (Source: Human Heredity)
Source: Human Heredity - June 16, 2021 Category: Genetics & Stem Cells Source Type: research
Voltage-Gated Sodium Channel β < sub > 1 < /sub > Gene: An Overview
Background: Voltage-gated sodium channels are protein complexes composed of 2 subunits, namely, pore-forming α- and regulatory β-subunits. A β-subunit consists of 5 proteins encoded by 4 genes (i.e.,SCN1B –SCN4B).Summary:β1-Subunits regulate sodium ion channel functions, including gating properties, subcellular localization, and kinetics.Key Message: Sodium channel β1- and its variant β1B-subunits are encoded bySCN1B. These variants are associated with many human diseases, such as epilepsy, Brugada syndrome, Dravet syndrome, and cancers. On the basis of previous research, we aimed to provide an overview of the stru...
Source: Human Heredity - May 26, 2021 Category: Genetics & Stem Cells Source Type: research
49th European Mathematical Genetics Meeting (EMGM) 2021
Hum Hered (Source: Human Heredity)
Source: Human Heredity - April 20, 2021 Category: Genetics & Stem Cells Source Type: research
Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21
Conclusion: The risk for MI nondisjunction of chromosome 21 was 4.6-fold higher in cases who had CTAA, CTAC, and TTAAMTHFR genotype combinations and who did not used folic acid supplements in the preconception period.Hum Hered (Source: Human Heredity)
Source: Human Heredity - March 30, 2021 Category: Genetics & Stem Cells Source Type: research
Variants in < b > < i > ACE2 < /i > < /b > and < b > < i > TMPRSS2 < /i > < /b > Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects
It is plausible that variants in theACE2 andTMPRSS2 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 inACE2 orTMPRSS2. There were no statistically significant differences in ...
Source: Human Heredity - March 22, 2021 Category: Genetics & Stem Cells Source Type: research
