Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal

Kimberly D. Williams, John Blangero, Carol R. Cottom, Sharon Lawrence, Audrey C. Choh, Stefan A. Czerwinski, Miryoung Lee, Dana L. Duren, Richard J. Sherwood, Thomas D. Dyer, Bharat Jha, Janardan Subedi, Sarah Williams-Blangero, Bradford Towne

    Research output: Contribution to journalArticle

    4 Scopus citations

    Abstract

    Brachymesophalangia-V (BMP-V), a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). A high prevalence of BDA3 has been observed among the children of the Jirel ethnic group in eastern Nepal. As part of the Jiri Growth Study, a hand-wrist radiograph is taken annually of each child to assess skeletal development. For this study the most recent radiographs of 1,357 Jirel children, adolescents, and young adults (676 boys, 681 girls), age 3-20 years, were examined for the presence or absence of BDA3, to report the prevalence and estimate the heritability of BDA3 in the Jirel population. The overall prevalence of BDA3 in this sample was 10.5% (12.9% of the males and 8.9% of the females were classified as BDA3 affected). The additive genetic heritability of BDA3 was statistically significant in this sample (h2 ± SE = 0.87 ± 0.16, p < 0.0001). This study is the first to estimate the prevalence and heritability of BDA3 in a large South Asian family-based sample.

    Original languageEnglish (US)
    Pages (from-to)609-622
    Number of pages14
    JournalHuman Biology
    Volume79
    Issue number6
    DOIs
    StatePublished - Dec 2007

    Keywords

    • Brachydactyly
    • Brachydactyly type A3 (BDA3)
    • Jirels
    • Nepal
    • Phalanges
    • Skeletal anomalies of the hand

    ASJC Scopus subject areas

    • Ecology, Evolution, Behavior and Systematics
    • Genetics
    • Genetics(clinical)

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    Williams, K. D., Blangero, J., Cottom, C. R., Lawrence, S., Choh, A. C., Czerwinski, S. A., Lee, M., Duren, D. L., Sherwood, R. J., Dyer, T. D., Jha, B., Subedi, J., Williams-Blangero, S., & Towne, B. (2007). Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. Human Biology, 79(6), 609-622. https://doi.org/10.1353/hub.2008.0016