TY - JOUR
T1 - Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal
AU - Williams, Kimberly D.
AU - Blangero, John
AU - Cottom, Carol R.
AU - Lawrence, Sharon
AU - Choh, Audrey C.
AU - Czerwinski, Stefan A.
AU - Lee, Miryoung
AU - Duren, Dana L.
AU - Sherwood, Richard J.
AU - Dyer, Thomas D.
AU - Jha, Bharat
AU - Subedi, Janardan
AU - Williams-Blangero, Sarah
AU - Towne, Bradford
PY - 2007/12
Y1 - 2007/12
N2 - 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.
AB - 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.
KW - Brachydactyly
KW - Brachydactyly type A3 (BDA3)
KW - Jirels
KW - Nepal
KW - Phalanges
KW - Skeletal anomalies of the hand
UR - http://www.scopus.com/inward/record.url?scp=42649115412&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=42649115412&partnerID=8YFLogxK
U2 - 10.1353/hub.2008.0016
DO - 10.1353/hub.2008.0016
M3 - Article
C2 - 18494372
AN - SCOPUS:42649115412
VL - 79
SP - 609
EP - 622
JO - Human Biology
JF - Human Biology
SN - 0018-7143
IS - 6
ER -