0000000000803410
AUTHOR
Alejandro Cáceres
Assessment of Susceptibility Risk Factors for ADHD in Imaging Genetic Studies
Objective: ADHD consists of a count of symptoms that often presents heterogeneity due to overdispersion and excess of zeros. Statistical inference is usually based on a dichotomous outcome that is underpowered. The main goal of this study was to determine a suited probability distribution to analyze ADHD symptoms in Imaging Genetic studies. Method: We used two independent population samples of children to evaluate the consistency of the standard probability distributions based on count data for describing ADHD symptoms. Results: We showed that the zero-inflated negative binomial (ZINB) distribution provided the best power for modeling ADHD symptoms. ZINB reveals a genetic variant, rs273342…
Genetic risk profiles for a childhood with severely overweight
Summary What is already known about this subject Genome-wide association studies have identified susceptibility loci, conferring only small effects to obesity. We selected 12 from the most accepted susceptibility genes to overweight, which have been corroborated in different populations and series of thousands of adult individuals. Single-nucleotide polymorphisms variants can have a cumulative effect on common forms of obesity, to create a genetic risk score. What this study adds We concentrated on 109 single-nucleotide polymorphisms (SNPs) located in 12 loci previously reported in association to body mass index at genome-wide significant level, for individuals of European ancestry. To iden…
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…