| Autor: |
Sabo, Aniko, Mishra, Pamela, Dugan‐Perez, Shannon, Voruganti, V. Saroja, Kent, Jack W., Kalra, Divya, Cole, Shelley A., Comuzzie, Anthony G., Muzny, Donna M., Gibbs, Richard A., Butte, Nancy F. |
| Předmět: |
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| Zdroj: |
Obesity (19307381); Jul2017, Vol. 25 Issue 7, p1270-1276, 7p |
| Abstrakt: |
Objective: To perform whole exome sequencing in 928 Hispanic children and identify variants and genes associated with childhood obesity.Methods: Single-nucleotide variants (SNVs) were identified from Illumina whole exome sequencing data using integrated read mapping, variant calling, and an annotation pipeline (Mercury). Association analyses of 74 obesity-related traits and exonic variants were performed using SeqMeta software. Rare autosomal variants were analyzed using gene-based association analyses, and common autosomal variants were analyzed at the SNV level.Results: (1) Rare exonic variants in 10 genes and 16 common SNVs in 11 genes that were associated with obesity traits in a cohort of Hispanic children were identified, (2) novel rare variants in peroxisome biogenesis factor 1 (PEX1) associated with several obesity traits (weight, weight z score, BMI, BMI z score, waist circumference, fat mass, trunk fat mass) were discovered, and (3) previously reported SNVs associated with childhood obesity were replicated.Conclusions: Convergence of whole exome sequencing, a family-based design, and extensive phenotyping discovered novel rare and common variants associated with childhood obesity. Linking PEX1 to obesity phenotypes poses a novel mechanism of peroxisomal biogenesis and metabolism underlying the development of childhood obesity. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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