Association and haplotype analyses of the COL1A2 and ER-α gene polymorphisms with bone size and height in Chinese
Association and haplotype analyses of the COL1A2 and ER-α gene polymorphisms with bone size and height in Chinese
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DOI：
10.1016/j.bone.2004.11.002
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发表时间：
2005-03-01
期刊：
影响因子：
4.1
通讯作者：
Deng, HW
中科院分区：
文献类型：
--
作者：
Lei, SF;Deng, FY;Deng, HW
骨骼大小（BS）是骨折在确定骨强度方面与BMD无关的另一个危险因素，并且高度与BS高度相关。为了测试雌激素受体A（ER-Alpha）和I型α2（Col1a2）基因对BS和高度变化的影响，我们在ER-Alpha的内含子1中基因分类了PVU II和XBAI多态性400个中国核心家庭中内含子47和内含子47和内含子1中的MSPI和（GT）N标记，总共有1256个个体。使用全息QDR 2000双能量X射线吸收仪（DXA）扫描仪测量髋关节和脊柱的BS。种群分层，家庭家庭关联和家庭内关联用于测试BS（脊柱和髋关节）以及高度与四个多态性的关系。我们还与COL1A2基因中MSPI和（GT）N多态性的单倍型进行了这些关联分析，以及ER-Alpha基因中PVU II和XBAI标记的单倍型。在COL1A2-MSPL（p = 0.05）和股骨颈BS之间，ER-Alpha-Px（P = 0.04）和跨膜间BS之间发现弱家庭内关联，以及Col1a2-（GT）（17）（17 ）（p = 0.02），col1a2-m（gt）（17）（p = 0.009）和高度。随后的置换测试通常证实了家庭内部关联。对于弱家庭内关联，Col1a2-MSP1，ER-Alpha-PX，Col1a2-（GT）（17），Col1a2-M（GT）（17）标记的表型差异比例为1.50％，1.51相应表型的％，2.15％和2.43％。关联结果表明，COL1A2基因的（GT）N和MSP1标记可能会对BS和高度的变化产生一定的影响，ER-A基因的XBAI和PVUII标记可能会对高度变化的影响有所影响。中文，但不适合BS的变化。 （c）2004 Elsevier Inc.保留所有权利。
Bone size (BS) is another risk factor of fracture independent of BMD in determining bone strength, and height is highly related with BS. To test the effect of the estrogen receptor-a (ER-alpha) and collagen type I alpha 2 (COL1A2) genes on the variation of BS and height, we genotyped the Pvu II and XbaI polymorphisms in the intron 1 of the ER-alpha gene and the MspI and (GT)n markers in the intron 47 and intron 1 of the COL1A2 gene in 400 Chinese nuclear families with a total of 1256 individuals. The BS at the hip and spine was measured using a Hologic QDR 2000 dual-energy X-ray absorptiometry (DXA) scanner. Population stratification, total-family association, and within-family association were used to test the relationship of BS (at the spine and hip) and height with the four polymorphisms. We also performed these association analyses with the haplotypes of the MspI and (GT)n polymorphisms in the COL1A2 gene, and with the haplotypes of the Pvu II and XbaI markers in the ER-alpha gene. Weak within-family association was found between the COL1A2-Mspl (P = 0.05) and the femoral neck BS, between the ER-alpha-PX (P = 0.04) and the intertrochanter BS, and between the COL1A2-(GT)(17) (P = 0.02), COL1A2-m(GT)(17) (P = 0.009) and height. Subsequent permutation tests generally confirmed the suggestive within-family association. For the weak within-family association, the proportions of phenotypic variance accounted by the COL1A2-Msp1, ER-alpha-PX, COL1A2-(GT)(17), COL1A2-m(GT)(17) markers were 1.50%, 1.51%, 2.15%, and 2.43% for the corresponding phenotypes. The association results indicate that the (GT)n and Msp1 markers of COL1A2 gene may have some influence on the variation of both BS and height, and the XbaI and PvuII markers of ER-a gene may have some effect on the variation of height in Chinese but not on the variation of BS. (c) 2004 Elsevier Inc. All rights reserved.