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Article
Open AccessContribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents
Polymorphisms in genes related to the metabolism of vitamin B12 haven’t been examined in a Brazilian population. To (a) determine the correlation between the local genetic ancestry components and vitamin B12 ...
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Article
Open AccessGenomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans
The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ...
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Article
Open AccessGenome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism
Hundreds of genetic variants have been associated with Body Mass Index (BMI) through genome-wide association studies (GWAS) using observational cohorts. However, the genetic contribution to efficient weight lo...
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Article
Open AccessAnalysis of circulating angiopoietin-like protein 3 and genetic variants in lipid metabolism and liver health: the DiOGenes study
Angiopoietin-like protein 3 (ANGPTL3), a liver-derived protein, plays an important role in the lipid and lipoprotein metabolism. Using data available from the DiOGenes study, we assessed the link with clinical...
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Article
Open AccessProtein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator
Thousands of genetic variants have been associated with complex traits through genome-wide association studies. However, the functional variants or mechanistic consequences remain elusive. Intermediate traits ...
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Article
Open AccessAutism risk assessment in siblings of affected children using sex-specific genetic scores
The inheritance pattern in most cases of autism is complex. The risk of autism is increased in siblings of children with autism and previous studies have indicated that the level of risk can be further identif...
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Article
Open AccessAssessing the impact of a combined analysis of four common low-risk genetic variants on autism risk
Autism is a complex disorder characterized by deficits involving communication, social interaction, and repetitive and restrictive patterns of behavior. Twin studies have shown that autism is strongly heritabl...
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Article
Open AccessAssociation of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis
Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide scre...
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Article
Open AccessGenetic polymorphisms of MMP1, MMP3 and MMP7gene promoter and risk of colorectal adenoma
Matrix metalloproteinases (MMP) have been shown to play a role in colorectal cancer (CRC). More recently, MMP1, MMP3 and MMP7 functional gene promoter polymorphisms have been found to be associated with CRC occur...
