Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women.
Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women.
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DOI：
10.1371/journal.pone.0112358
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Zhou BT
中科院分区：
文献类型：
--
作者：
Zhou QH;Zhao LJ;Wang P;Badr R;Xu XJ;Bu FX;Lappe J;Recker R;Zhou Y;Ye A;Zhou BT
EGFR（epidermal growth factor receptor，表皮生长因子受体）、CALM 3（calmodulin 3，钙调蛋白3）和SMARD 1（SWI/SNF-related matrix associated actin-dependent regulator of chromatin subfamily d member 1）三个基因在高加索女性骨和/或脂肪代谢中发挥不同的作用。在对870名无关的绝经后白人妇女进行的这项基于人群的调查中，CALM 3多态性与股骨颈骨密度（FNK BMD）、髋部BMD和脊柱BMD显著相关。年龄和吸烟状况也影响BMD水平，因此在我们的统计分析中进行了校正。 EGFR、CALM 3和SMARD 1在骨和/或脂肪代谢中发挥作用。然而，这三个基因的多态性和身体组成水平，包括BMD之间的相关性，仍有待确定。对870名白色妇女进行了基于人口的调查。通过软件选择EGFR、CALM 3和SMARD 1中的44个SNP（单核苷酸多态性），包括那些潜在功能重要性的SNP。通过KASPar测定对候选SNP进行基因分型，以进行与身体组成水平的关联分析。通过Pearson积差相关系数和斯皮尔曼等级顺序相关检验评估相关性分析，并使用PLINK中实施的Wald检验校正家族误差。CALM 3基因3′-侧翼区rs 12461917与FNK BMD（P = 0.001）、髋部BMD（P<0.001）和脊柱BMD（P = 0.001）显著相关; CALM 3基因5′-侧翼区rs 11083838与脊柱BMD显著相关（P = 0.009）。 在调整多重比较后，rs 12461917仍然具有显著性（FNK BMD的P调整=0.033，髋部BMD的P调整=0.006，脊柱BMD的P调整=0.018）。 我们的数据表明，高加索妇女的CALM 3基因多态性可能有助于在髋关节，脊柱和股骨颈的BMD的变化。
Three genes, including EGFR (epidermal growth factor receptor), CALM3 (calmodulin 3, calcium-modulated protein 3) and SMARCD1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily d member 1), play different roles in bone and/or fat metabolism in Caucasian women. In this population-based investigation of 870 unrelated postmenopausal Caucasian women, CALM3 polymorphisms were significantly associated with femoral neck bone mineral density (FNK BMD), hip BMD and spine BMD. Age and tobacco status also affected BMD levels and were therefore corrected for in our statistical analysis. EGFR, CALM3 and SMARCD1 play roles in bone and/or fat metabolism. However, the correlations between the polymorphisms of these three genes and body composition levels, including BMD, remain to be determined. A population-based investigation of 870 white women was conducted. Forty-four SNPs (single nucleotide polymorphisms) in EGFR, CALM3 and SMARCD1 were chosen by the software, including those of potential functional importance. The candidate SNPs were genotyped by the KASPar assay for an association analysis with body composition levels. The correlation analysis was assessed by the Pearson's product-moment correlation coefficient and Spearman rank-order correlation tests, and the family-wise error was corrected using the Wald test implemented in PLINK. The SNP rs12461917 in the 3′-flanking region of the CALM3 gene was significantly associated with FNK BMD (P = 0.001), hip BMD (P<0.001) and spine BMD (P = 0.001); rs11083838 in the 5′-flanking region of CALM3 gene was associated with spine BMD (P = 0.009). After adjusting for multiple comparisons, rs12461917 remained significant (P-adjusted = 0.033 for FNK BMD, P-adjusted = 0.006 for hip BMD and P-adjusted = 0.018 for spine BMD). Our data show that polymorphisms of the CALM3 gene in Caucasian women may contribute to variations in the BMD of the hip, spine and femoral neck.
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影响因子：
10.5
作者：
Saccone V;Consalvi S;Giordani L;Mozzetta C;Barozzi I;Sandoná M;Ryan T;Rojas-Muñoz A;Madaro L;Fasanaro P;Borsellino G;De Bardi M;Frigè G;Termanini A;Sun X;Rossant J;Bruneau BG;Mercola M;Minucci S;Puri PL
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Puri PL
影响因子：
105.7
作者：
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通讯作者：
Hackshaw, AK
影响因子：
7
作者：
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通讯作者：
Ralston, Stuart H.
影响因子：
4.1
作者：
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Compston, JE
影响因子：
4.8
作者：
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