Early detection and treatment of head and neck cancer has led to increased patient survival. However such patients are at a high risk for multiple primary neoplasm(s) (MPN). In order to study the genetic susceptibility to MPN, 22 candidate SNPs were genotyped based on which a distinctive Genotype Score was created using Additive, Dominant and Recessive models. Using lymphoblastoid cell lines (LCLs) generated from these individuals, the Genotype Score was correlated with carcinogen sensitivity in vitro. LCLs from MPN patients exhibited significantly higher Genotype Score and showed resistance to genotoxic agents compared to matched controls. This report demonstrates quantitative assessment of cumulative effect of gene polymorphisms and its correlation with carcinogen sensitivity for predicting susceptibility to MPN.
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http://dx.doi.org/10.1016/j.canlet.2013.01.017 | DOI Listing |
Gigascience
January 2025
Leibniz Institute for the Analysis of Biodiversity Change, Museum Koenig Bonn, 53113 Bonn, Germany.
Background: In this study, we present an in-depth analysis of the Eurasian minnow (Phoxinus phoxinus) genome, highlighting its genetic diversity, structural variations, and evolutionary adaptations. We generated an annotated haplotype-phased, chromosome-level genome assembly (2n = 50) by integrating high-fidelity (HiFi) long reads and chromosome conformation capture data (Hi-C).
Results: We achieved a haploid size of 940 megabase pairs (Mbp) for haplome 1 and 929 Mbp for haplome 2 with high scaffold N50 values of 36.
Front Psychiatry
January 2025
Department of Psychiatry, Third People's Hospital of Zhongshan City, Zhongshan, China.
Objective: To investigate the correlation between BDNF gene polymorphism, BDNF levels, and susceptibility to mild cognitive impairment (MCI).
Methods: In this study, we investigated 107 elderly adults individuals from a community in Zhongshan, Guangdong Province, with an average age of 73.17 ± 7.
Arch Endocrinol Metab
January 2025
Unidade de Endocrinologia Ginecológica Hospital de Clínicas de Porto Alegre Divisão de Endocrinologia Porto AlegreRS Brasil Unidade de Endocrinologia Ginecológica, Divisão de Endocrinologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.
Objective: To assess the genotypic and allelic distribution of the rs10046 polymorphism in the gene and evaluate whether this aromatase gene variant is associated with cardiovascular risk in postmenopausal women.
Materials And Methods: This cross-sectional study analyzed repository-stored samples from 370 postmenopausal women aged 44-72 years. Clinical, metabolic, and hormonal data were collected.
PNAS Nexus
January 2025
Faculty of Health and Life Sciences, University of Exeter Medical School, University of Exeter, St Luke's campus, Exeter EX1 2LU, United Kingdom.
Apolipoprotein () genotype and nitric oxide (NO) deficiency are risk factors for age-associated cognitive decline. The oral microbiome plays a critical role in maintaining NO bioavailability during aging. The aim of this study was to assess interactions between the oral microbiome, NO biomarkers, and cognitive function in 60 participants with mild cognitive impairment (MCI) and 60 healthy controls using weighted gene co-occurrence network analysis and to compare the oral microbiomes between carriers and noncarriers in a subgroup of 35 MCI participants.
View Article and Find Full Text PDFGenet Epidemiol
March 2025
Department of Social and Preventive Medicine, Laval University, Quebec City, Quebec, Canada.
A large proportion of genetic variations involved in complex diseases are rare and located within noncoding regions, making the interpretation of underlying biological mechanisms a daunting task. Although technical and methodological progress has been made to annotate the genome, current disease-rare-variant association tests incorporating such annotations suffer from two major limitations. First, they are generally restricted to case-control designs of unrelated individuals, which often require tens or hundreds of thousands of individuals to achieve sufficient power.
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