2号染色体短臂、4号染色体短臂和13号染色体长臂上的数量性状基因座影响墨西哥裔美国人的前臂和髋部骨密度。
Quantitative trait loci on chromosomes 2p, 4p, and 13q influence bone mineral density of the forearm and hip in Mexican Americans.
作者信息
Kammerer Candace M, Schneider Jennifer L, Cole Shelley A, Hixson James E, Samollow Paul B, O'Connell Jeffrey R, Perez Reina, Dyer Thomas D, Almasy Laura, Blangero John, Bauer Richard L, Mitchell Braxton D
机构信息
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA.
出版信息
J Bone Miner Res. 2003 Dec;18(12):2245-52. doi: 10.1359/jbmr.2003.18.12.2245.
UNLABELLED
We performed a genome scan using BMD data of the forearm and hip on 664 individuals in 29 Mexican-American families. We obtained evidence for QTL on chromosome 4p, affecting forearm BMD overall, and on chromosomes 2p and 13q, affecting hip BMD in men.
INTRODUCTION
The San Antonio Family Osteoporosis Study (SAFOS) was designed to identify genes and environmental factors that influence bone mineral density (BMD) using data from large Mexican-American families.
MATERIALS AND METHODS
We performed a genome-wide linkage analysis using 416 highly polymorphic microsatellite markers spaced approximately 9.5 cM apart to locate and identify quantitative trait loci (QTL) that affect BMD of the forearm and hip. Multipoint variance components linkage analyses were done using data on all 664 subjects, as well as two subgroups of 259 men and 261 premenopausal women, from 29 families for which genotypic and phenotypic data were available.
RESULTS
We obtained significant evidence for a QTL affecting forearm (radius midpoint) BMD in men and women combined on chromosome 4p near D4S2639 (maximum LOD = 4.33, genomic p = 0.006) and suggestive evidence for a QTL on chromosome 12q near locus D12S2070 (maximum conditional LOD = 2.35). We found suggestive evidence for a QTL influencing trochanter BMD on chromosome 6 (maximum LOD = 2.27), but no evidence for QTL affecting the femoral neck in men and women combined. In men, we obtained evidence for QTL affecting neck and trochanter BMD on chromosomes 2p near D2S1780 (maximum LOD = 3.98, genomic p = 0.013) and 13q near D13S788 (maximum LOD = 3.46, genomic p = 0.039), respectively. We found no evidence for QTL affecting forearm or hip BMD in premenopausal women.
CONCLUSION
These results provide strong evidence that a QTL on chromosome 4p affects radius BMD in Mexican-American men and women, as well as evidence that QTL on chromosomes 2p and 13q affect hip BMD in men. Our results are consistent with some reports in humans and mice. J Bone Miner Res 2003;18:2245-2252
未标记
我们利用29个墨西哥裔美国家庭中664名个体的前臂和髋部骨密度数据进行了全基因组扫描。我们获得了4号染色体短臂上存在影响总体前臂骨密度的数量性状基因座（QTL）的证据，以及2号染色体短臂和13号染色体长臂上存在影响男性髋部骨密度的QTL的证据。
引言
圣安东尼奥家族骨质疏松症研究（SAFOS）旨在利用来自大型墨西哥裔美国家庭的数据，确定影响骨密度（BMD）的基因和环境因素。
材料与方法
我们使用416个高度多态性的微卫星标记进行全基因组连锁分析，这些标记间距约为9.5厘摩，以定位和识别影响前臂和髋部骨密度的数量性状基因座（QTL）。使用来自29个家庭的所有664名受试者以及259名男性和261名绝经前女性这两个亚组的数据进行多点方差成分连锁分析，这些家庭具有基因型和表型数据。
结果
我们获得了显著证据，表明4号染色体短臂上靠近D4S2639的一个QTL影响男性和女性的前臂（桡骨中点）骨密度（最大对数优势比 = 4.33，基因组p = 0.006），以及12号染色体长臂上靠近D12S2070位点的一个QTL的提示性证据（最大条件对数优势比 = 2.35）。我们发现6号染色体上有一个影响转子骨密度的QTL的提示性证据（最大对数优势比 = 2.27），但没有证据表明存在影响男性和女性股骨颈的QTL。在男性中，我们分别获得了2号染色体短臂上靠近D2S1780的影响颈部和转子骨密度的QTL的证据（最大对数优势比 = 3.98，基因组p = 0.013）以及13号染色体长臂上靠近D13S788的证据（最大对数优势比 = 3.46，基因组p = 0.039）。我们没有发现影响绝经前女性前臂或髋部骨密度的QTL的证据。
结论
这些结果提供了有力证据，表明4号染色体短臂上的一个QTL影响墨西哥裔美国男性和女性的桡骨骨密度，以及2号染色体短臂和13号染色体长臂上的QTL影响男性髋部骨密度的证据。我们的结果与人类和小鼠的一些报道一致。《骨与矿物质研究杂志》2003年；18：2245 - 2252
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