Abstract
SummaryThree 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.Introduction 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.Materials and MethodsA 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.ResultsThe 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).ConclusionsOur 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.
Highlights
EGFR, calmodulin 3 gene (CALM3) and SMARCD1 play roles in bone and/or fat metabolism
The Single nucleotide polymorphism (SNP) rs12461917 in the 39-flanking region of the CALM3 gene was significantly associated with femoral neck bone mineral density (FNK bone mineral density (BMD)) (P = 0.001), hip BMD (P,0.001) and spine BMD (P = 0.001); rs11083838 in the 59-flanking region of CALM3 gene was associated with spine BMD (P = 0.009)
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
Summary
The correlations between the polymorphisms of these three genes and body composition levels, including BMD, remain to be determined. Osteoporosis is a common progressive bone disease that is characterized by decreased bone mineral density (BMD) and is known to increase the risk of fractures [1]. The disequilibration of bone resorption by osteoclasts and bone formation by osteoblasts underlies the pathogenesis of osteoporosis [2]. At-risk populations for primary osteoporosis include elderly and postmenopausal women in particular because BMD is known to decrease with age and its rate of decline is very hormonally sensitive [3]. Age and external factors, such as smoking, body weight and race, influence BMD [5,6], and more recently, investigators have found that genetic factors play important roles in the pathogenesis of osteoporosis [7]. Candidate gene association studies have found several polymorphisms that are associated with BMD, Variables
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