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Your search keyword '"Alexandra Sockell"' showing total 2 results
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2 results on '"Alexandra Sockell"'

1. Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.

Author

Esteban J Parra, Andrew Mazurek, Christopher R Gignoux, Alexandra Sockell, Michael Agostino, Andrew P Morris, Lauren E Petty, Craig L Hanis, Nancy J Cox, Adan Valladares-Salgado, Jennifer E Below, and Miguel Cruz

Subjects
Medicine, Science
Abstract

We carried out an admixture mapping study of lipid traits in two samples from Mexico City. Native American locus ancestry was significantly associated with triglyceride levels in a broad region of chromosome 11 overlapping the BUD13, ZNF259 and APOA5 genes. In our fine-mapping analysis of this region using dense genome-wide data, rs964184 is the only marker included in the 99% credible set of SNPs, providing strong support for rs964184 as the causal variant within this region. The frequency of the allele associated with increased triglyceride concentrations (rs964184-G) is between 30-40% higher in Native American populations from Mexico than in European populations. The evidence currently available for this variant indicates that it may be exerting its effect through three potential mechanisms: 1) modification of enhancer activity, 2) regulation of the expression of several genes in cis and/or trans, or 3) modification of the methylation patterns of the promoter of the APOA5 gene.

Published
2017
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2. Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal

Author

Miguel Cruz, Lauren E. Petty, Christopher R. Gignoux, Andrew P. Morris, Esteban J. Parra, Adan Valladares-Salgado, Craig L. Hanis, Nancy J. Cox, Michael Agostino, Andrew Mazurek, Alexandra Sockell, and Jennifer E. Below

Subjects
Male, 0301 basic medicine, Mexican People, lcsh:Medicine, Biochemistry, Geographical locations, Linkage Disequilibrium, chemistry.chemical_compound, Mathematical and Statistical Techniques, Cell Signaling, Gene Frequency, Native Americans, Mexican Americans, Ethnicities, lcsh:Science, Genetics, Multidisciplinary, RNA-Binding Proteins, Genomics, Methylation, Population groupings, Middle Aged, Lipids, Physical Sciences, Female, Genomic Signal Processing, Statistics (Mathematics), Research Article, Signal Transduction, Adult, Genetic admixture, Locus (genetics), Single-nucleotide polymorphism, Biology, Research and Analysis Methods, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Statistical Methods, Allele, Enhancer, Mexico, Gene, Alleles, Triglycerides, Triglyceride, lcsh:R, Biology and Life Sciences, Computational Biology, Membrane Transport Proteins, Human Genetics, Cell Biology, Genome Analysis, 030104 developmental biology, Haplotypes, chemistry, Genetic Loci, Apolipoprotein A-V, North America, lcsh:Q, People and places, Carrier Proteins, Mathematics, Meta-Analysis, Genome-Wide Association Study
Abstract

We carried out an admixture mapping study of lipid traits in two samples from Mexico City. Native American locus ancestry was significantly associated with triglyceride levels in a broad region of chromosome 11 overlapping the BUD13, ZNF259 and APOA5 genes. In our fine-mapping analysis of this region using dense genome-wide data, rs964184 is the only marker included in the 99% credible set of SNPs, providing strong support for rs964184 as the causal variant within this region. The frequency of the allele associated with increased triglyceride concentrations (rs964184-G) is between 30-40% higher in Native American populations from Mexico than in European populations. The evidence currently available for this variant indicates that it may be exerting its effect through three potential mechanisms: 1) modification of enhancer activity, 2) regulation of the expression of several genes in cis and/or trans, or 3) modification of the methylation patterns of the promoter of the APOA5 gene.

Published
2017
Full Text
View/download PDF

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