Copy number variation in CNP267 region may be associated with hip bone size.
Copy number variation in CNP267 region may be associated with hip bone size.
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CNP267 区域的拷贝数变异可能与髋骨大小有关
DOI：
10.1371/journal.pone.0022035
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发表时间：
2011
期刊：
影响因子：
3.7
通讯作者：
Deng HW
中科院分区：
文献类型：
--
作者：
Liu SL;Lei SF;Yang F;Li X;Liu R;Nie S;Liu XG;Yang TL;Guo Y;Deng FY;Tian Q;Li J;Liu YZ;Liu YJ;Shen H;Deng HW
骨质疏松性髋部骨折（Osteoporotic hip fracture，HF）是一个严重的全球性公共卫生问题，发病率和死亡率都很高。髋骨大小（BS）已被确定为HF的关键可测量风险因素之一，独立于骨矿物质密度（BMD）。髋关节BS是高度遗传决定的，但遗传因素的基础BS的变化仍然很难定义。在这里，我们使用Affyssin GeneChip Human Mapping SNP 6.0 Array对1，627名中国汉族受试者进行了髋关节BS的初始全基因组拷贝数变异（CNV）关联分析，并在2，286名无关的美国白人样本中进行了随访重复研究。我们发现位于染色体2q12.2的拷贝数多态性（CNP 267）与初始中国人和重复高加索人样本中的髋关节BS显著相关，p值分别为4.73E-03和5.66E-03。在CNP 267的下游检测到一个重要的候选基因FHL 2，它通过与胰岛素样生长因子结合蛋白5（IGFBP-5）和雄激素受体（AR）等骨形成调节因子结合，在骨代谢中起重要作用。提示CNP 267区域可能与髋关节BS相关，并可能影响FHL 2基因下游。
Osteoporotic hip fracture (HF) is a serious global public health problem associated with high morbidity and mortality. Hip bone size (BS) has been identified as one of key measurable risk factors for HF, independent of bone mineral density (BMD). Hip BS is highly genetically determined, but genetic factors underlying BS variation are still poorly defined. Here, we performed an initial genome-wide copy number variation (CNV) association analysis for hip BS in 1,627 Chinese Han subjects using Affymetrix GeneChip Human Mapping SNP 6.0 Array and a follow-up replicate study in 2,286 unrelated US Caucasians sample. We found that a copy number polymorphism (CNP267) located at chromosome 2q12.2 was significantly associated with hip BS in both initial Chinese and replicate Caucasian samples with p values of 4.73E-03 and 5.66E-03, respectively. An important candidate gene, four and a half LIM domains 2 (FHL2), was detected at the downstream of CNP267, which plays important roles in bone metabolism by binding to several bone formation regulator, such as insulin-like growth factor-binding protein 5 (IGFBP-5) and androgen receptor (AR). Our findings suggest that CNP267 region may be associated with hip BS which might influence the FHL2 gene downstream.
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影响因子：
30.8
作者：
通讯作者：
--
DOI：
10.1152/ajpendo.2001.281.2.e283
发表时间：
2001-08-01
影响因子：
5.1
作者：
Andress, DL
通讯作者：
Andress, DL
影响因子：
14.2
作者：
Eder, W;Klimecki, W;Martinez, FD
通讯作者：
Martinez, FD
影响因子：
6.2
作者：
Burge, Russel;Dawson-Hughes, Bess;Tosteson, Anna
通讯作者：
Tosteson, Anna
DOI：
10.1073/pnas.1533500100
发表时间：
2003-08-05
影响因子：
11.1
作者：
Kawano, H;Sato, T;Kato, S
通讯作者：
Kato, S