A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature.
Human height is a complex trait under the control of both genetic and environment factors. In order to identify genomic regions underlying the variation of stature, we performed a whole-genome linkage analysis on a sample of 53 human pedigrees containing 1,249 sib pairs, 1,098 grandparent-grandchildren pairs, 1,993 avuncular pairs, and 1,172 first-cousin pairs. Several genomic regions were suggested by our study to be linked with human height variation. These regions include 5q31 at 144 cM from pter on chromosome 5 (with a maximum LOD score of 2.14 in multipoint linkage analyses), Xp22 at the marker DXS1060, and Xq25 at DXS1001 on the X chromosome (with LOD scores of 1.95 and 1.91, respectively, in two-point linkage analyses). Noticeably, Xp22 happens to be the very region where a newly identified gene underlying idiopathic short stature, SHOX, maps. Based on our findings, further confirmation and fine-mapping studies are to be pursued on expanded samples and/or with denser markers for eventual identification of major functional genes involved in human height variation.
Deng
Hong-Wen
HW
Osteoporosis Research Center, Creighton University, Omaha, Nebraska 68131, USA. deng@creighton.edu
Xu
Fu-Hua
FH
Liu
Yao-Zhong
YZ
Shen
Hui
H
Deng
Hongyi
H
Huang
Qing-Yang
QY
Liu
Yong-Jun
YJ
Conway
Theresa
T
Li
Jin-Long
JL
Davies
K M
KM
Recker
Robert R
RR
D001827:Body Height / Q000235:genetics*; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D041321:Chromosomes, Human, X; D005260:Female; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D040641:Quantitative Trait Loci; D012727:Sex Characteristics