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Osteoporosis is a bone excessively vulnerable diseases every year, the huge number of elderly low-trauma fracture. Osteoporotic fractures are the most serious consequences of osteoporosis, which will spend a huge amount of medical expenses. Bone strength is a measure of the most important determinants of osteoporotic fractures. BMD is currently the most important parameter used to measure the bone strength, but not the only. Scientists a lot of exploration on risk factors in the prediction of bone strength the femoral neck compressive strength index (CSI) is the latest proposed parameter used to measure bone strength, which combines the femoral neck (FN BMD). Femur The neck width (FNW) and the combined effect of the weight (weight) and other variables. Previous studies have shown, CSI is a complex trait, and has a higher ability to predict fracture risk and high heritability. As genetic markers by using single-nucleotide polymorphism (SNP), previous studies have identified a some CSI's genetic factor, but there are still a large number of genetic factors undetected. Copy number polymorphisms (CNP) is a chromosomal structural variation, it plays an important role in the pathogenesis of some complex diseases, but for the CNP little research, especially in the CSI related research fields. In order to detect CNP whether effective on CSI should, determine the CSI candidate genes, this study was carried out in the Chinese population the first CSI genome CNP association studies. This study selected 1627 unrelated Chinese people as the initial study sample, 2,286 unrelated Caucasians of European descent as a validation sample. CSI formula for CSI = (FN BMD × FNW) / Weight. The genotyping chip uses the latest Affymetrix, the GeneChip Human Mapping SNP 6.0 chip, it contains 1,319 CNP probe. Four CNPs with CS workers were significantly associated (P lt; 0.05) was found in the initial analysis of the Chinese population. Where CNP124 in the Caucasian population, but it's not around the gene associated with bone metabolism. Sample T-test results show that CSI like other phenotypes, there are race and gender, geographical differences. In this study, in order to further explore the relationship between CNP and CSI's Chinese population samples divided into male sample, female sample and Changsha crowd, Xi'an population, respectively, conducted the analysis results in Changsha crowd found four CNPs with CSI significantly related (p-lt; 0.05 ). They are CNP1175 (p = 0.0058), CNP11591 (p = 0.0114), CNP536 (p = 0.0330) and CNP555 (p = 0.0469), which CNP1175 in Xi'an crowd. The experimental results showed that the bone metabolism candidate genes located within or near the CNP and CSI, as MGAMo this is the first time found that the variability of CNP and CSI. In this study, using the latest chip and research methods the CSI genetic factors identified and for the first time found CNP124, CNP1175 CNPs the CS workers in the Chinese population, the results of this study show that CNP may by changing the structure of chromosomal genes caused by the region or neighboring genes positively regulated anti-regulation, and thus have an impact on gene expression. On the other hand, how much of the CNP copy number directly impact the amount of the protein product of translation purposes, which directly lead to the disease. In short, this article greatly enrich the understanding of the genetic mechanism of the CSI provides important information for the follow-up study of gene function.
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