Genetic dissection of human stature in a large sample of multiplex pedigrees
Genetic dissection of human stature in a large sample of multiplex pedigrees
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DOI：
10.1046/j.1529-8817.2003.00117.x
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发表时间：
2004-09-01
影响因子：
1.9
通讯作者：
Deng, HW
中科院分区：
文献类型：
--
作者：
Liu, YZ;Xu, FH;Deng, HW
最近，我们对来自53个家系的630名高加索人样本进行了全基因组扫描。有几个基因组区域被认为与身高相关。为了证实已确定的基因组区域，并识别与身高相关的新基因组区域，我们对来自79个家系的1816名受试者的扩展样本进行了全基因组连锁研究，其中包括我们之前全基因组研究中包含630名原始受试者的53个家系以及另外128名新受试者，还有包含1058名受试者的26个其他家系。几个区域获得了提示性连锁信号，例如9q22.32[多点优势对数计分（MLS）= 2.74]、9q34.3[MLS = 2.66]、Xq24[在标记DXS8067处两点优势对数计分 = 2.64]和7p14.2[MLS = 2.05]。上述区域的重要性得到了其他全基因组研究或这些区域内与线性生长或身材矮小发病机制相关的候选基因的支持。此外，这项研究初步证实了Xq24区域与身高的连锁关系，因为该区域在之前的全基因组研究中也被检测到。到目前为止，我们的研究在人类身高的遗传连锁研究领域达到了最大的样本量。结合其他研究的结果，当前的研究进一步描绘了人类身高的遗传基础。
Recently, we reported a whole genome scan on a sample of 630 Caucasian subjects from 53 human pedigrees. Several genomic regions were suggested to be linked to height. In an attempt to confirm the identified genomic regions, as well as to identify new genomic regions linked to height, we conducted a whole genome linkage study on an extended sample of 1,816 subjects from 79 pedigrees, which includes the 53 pedigrees containing the original 630 subjects from our previous whole genome study and an additional 128 new subjects, and 26 further pedigrees containing 1,058 subjects. Several regions achieved suggestive linkage signals, such as 9q22.32 [MLS (multipoint LOD score) = 2.74], 9q34.3 [MLS = 2.66], Xq24 [two-point LOD score = 2.64 at the marker DXS8067], and 7p14.2 [MLS = 2.05]. The importance of the above regions is supported either by other whole genome studies or by candidate genes within these regions relevant to linear growth or pathogenesis of short stature. In addition, this study has tentatively confirmed the Xq24 region's linkage to height, as this region was also detected in the previous whole genome study. To date, our study has achieved the largest sample size in the field of genetic linkage studies of human height. Together with the findings of other studies, the current study has further delineated the genetic basis of human stature.