The ESR1 (6q25) locus is associated with calcaneal ultrasound parameters and radial volumetric bone mineral density in European men.
The ESR1 (6q25) locus is associated with calcaneal ultrasound parameters and radial volumetric bone mineral density in European men.
复制标题
ESR1 (6q25) 基因座与欧洲男性的跟骨超声参数和桡骨体积骨矿物质密度相关。
DOI：
10.1371/journal.pone.0022037
复制
发表时间：
2011
期刊：
影响因子：
3.7
通讯作者：
EMAS study group
中科院分区：
文献类型：
--
作者：
Holliday KL;Pye SR;Thomson W;Boonen S;Borghs H;Vanderschueren D;Gielen E;Huhtaniemi IT;Adams JE;Ward KA;Bartfai G;Casanueva F;Finn JD;Forti G;Giwercman A;Han TS;Kula K;Labrie F;Lean ME;Pendleton N;Punab M;Wu FC;O'Neill TW;EMAS study group
全基因组关联研究 (GWAS) 已确定 6q25，其中包含雌激素受体 α 基因 (ESR1)，作为髋部和腰椎面积骨矿物质密度 (BMDa) 的数量性状基因座。本研究的目的是确定该基因座对其他骨骼健康结果的影响；欧洲男性人群样本中的跟骨超声 (QUS) 参数、桡骨外周定量计算机断层扫描 (pQCT) 参数和骨转换标志物。参加欧洲男性衰老研究 (EMAS) 的 6q25 基因座中的 8 个单核苷酸多态性 (SNP) 对来自 7 个欧洲国家的 40-79 岁男性进行了基因分型。在使用线性回归调整中心的加性遗传模型下测试了 SNP 和测量的骨参数之间的关联。 2468 名平均 (SD) 年龄为 59.9 (11.1) 岁的男性进行了 QUS 测量并测量了骨转换标志物水平。其中 628 名男性进行了 DXA 和 pQCT 测量。使用所有三种测量技术，多个独立的 SNP 显示与 BMD 显着相关。最值得注意的是，rs1999805 与跟骨估计 BMD 降低 0.10 SD (95% CI 0.05, 0.16; p = 0.0001) 相关，使总髋关节 BMDa 降低 0.14 SD (95% CI 0.05, 0.24; p = 0.004)，降低 0.12每个小等位基因拷贝的远端桡骨处的 SD (95%CI 0.02, 0.23; p = 0.026) 较低腰椎 BMDa 和 0.18 SD (95%CI 0.06, 0.29; p = 0.003) 较低小梁 BMD。与骨转换标志物的血清水平没有关联，与皮质密度相关的单个 SNP 也与皮质 BMC 和厚度相关。我们的数据复制了先前在 6q25 位点中的 SNP 与髋部 BMDa 之间发现的关联，并将这些数据扩展为包括与跟骨超声参数和径向体积 BMD 的关联。
Genome-wide association studies (GWAS) have identified 6q25, which incorporates the oestrogen receptor α gene (ESR1), as a quantitative trait locus for areal bone mineral density (BMDa) of the hip and lumbar spine. The aim of this study was to determine the influence of this locus on other bone health outcomes; calcaneal ultrasound (QUS) parameters, radial peripheral quantitative computed tomography (pQCT) parameters and markers of bone turnover in a population sample of European men. Eight single nucleotide polymorphisms (SNP) in the 6q25 locus were genotyped in men aged 40–79 years from 7 European countries, participating in the European Male Ageing Study (EMAS). The associations between SNPs and measured bone parameters were tested under an additive genetic model adjusting for centre using linear regression. 2468 men, mean (SD) aged 59.9 (11.1) years had QUS measurements performed and bone turnover marker levels measured. A subset of 628 men had DXA and pQCT measurements. Multiple independent SNPs showed significant associations with BMD using all three measurement techniques. Most notably, rs1999805 was associated with a 0.10 SD (95%CI 0.05, 0.16; p = 0.0001) lower estimated BMD at the calcaneus, a 0.14 SD (95%CI 0.05, 0.24; p = 0.004) lower total hip BMDa, a 0.12 SD (95%CI 0.02, 0.23; p = 0.026) lower lumbar spine BMDa and a 0.18 SD (95%CI 0.06, 0.29; p = 0.003) lower trabecular BMD at the distal radius for each copy of the minor allele. There was no association with serum levels of bone turnover markers and a single SNP which was associated with cortical density was also associated with cortical BMC and thickness. Our data replicate previous associations found between SNPs in the 6q25 locus and BMDa at the hip and extend these data to include associations with calcaneal ultrasound parameters and radial volumetric BMD.
登录
查看更多内容
影响因子：
120.7
作者：
Ioannidis, JPA;Ralston, SH;Uitterlinden, AG
通讯作者：
Uitterlinden, AG
影响因子：
15.9
作者：
Falahati-Nini, A;Riggs, BL;Khosla, S
通讯作者：
Khosla, S
影响因子：
4
作者：
Bauer, D. C.;Ewing, S. K.;Orwoll, E. S.
通讯作者：
Orwoll, E. S.
影响因子：
6.2
作者：
Marin, Fernando;Gonzalez-Macias, Jesus;Delgado-Rodriguez, Miguel
通讯作者：
Delgado-Rodriguez, Miguel
DOI：
10.1016/j.jsbmb.2006.09.034
发表时间：
2007-02-01
影响因子：
4.1
作者：
Labrie, Fernand;Belanger, Alain;Leclaire, Jacques
通讯作者：
Leclaire, Jacques