Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children

Aniko Sabo, Pamela Mishra, Shannon Dugan-Perez, V. Saroja Voruganti, Jack W. Kent, Divya Kalra, Shelley A. Cole, Anthony G. Comuzzie, Donna M. Muzny, Richard A. Gibbs, Nancy F. Butte

    Research output: Contribution to journalArticlepeer-review

    7 Scopus citations


    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.

    Original languageEnglish (US)
    Pages (from-to)1270-1276
    Number of pages7
    Issue number7
    StatePublished - Jul 2017

    ASJC Scopus subject areas

    • Medicine (miscellaneous)
    • Endocrinology, Diabetes and Metabolism
    • Endocrinology
    • Nutrition and Dietetics


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