Jorde Rolf, Svartberg Johan, Joakimsen Ragnar Martin, Grimnes Guri
Tromsø Endocrine Research Group, Department of Clinical Medicine, University of Tromsø, Norway.
Ann Hum Genet. 2012 May;76(3):200-10. doi: 10.1111/j.1469-1809.2012.00703.x. Epub 2012 Mar 5.
A number of single nucleotide polymorphisms (SNPs) related to height have been detected. Calcium metabolism is important for the skeleton and accordingly also for adult height. Therefore, in the present study, nine SNPs related to the vitamin D receptor (VDR) gene and serum levels of 25-hydroxyvitamin D (25(OH)D), calcium, phosphate and parathyroid hormone (PTH) were related to height in 9471 subjects. Relation with height was evaluated with linear regression for trend across SNP genotypes with age and gender as covariates. After correcting for multiple testing, significant associations with height were found for two SNPs related to the VDR gene (rs1544410 (Bsml) and rs7975232 (Apal)), one SNP related to serum 25(OH)D (rs3829251 at the DHCR7/NADSYN1 gene), one SNP related to serum calcium (rs1459015 at the PTH gene) and one SNP related to serum phosphate (rs1697421 at the ALPL gene). For rs3829251, the mean differences in height between major and minor homozygotes were 1.5-2.0 cm (P < 0.01) and were seen in both genders and all age groups tested, whereas for the other SNPs, the differences were less than 1 cm. In conclusion, several SNPs related to calcium metabolism are associated with height, in particular rs3829251 at the DHCR7/NADSYN1 gene.
已检测到一些与身高相关的单核苷酸多态性(SNP)。钙代谢对骨骼很重要,因此对成人身高也很重要。所以,在本研究中,在9471名受试者中,研究了9个与维生素D受体(VDR)基因以及血清25-羟基维生素D(25(OH)D)、钙、磷和甲状旁腺激素(PTH)水平相关的SNP与身高的关系。以年龄和性别作为协变量,通过线性回归分析SNP基因型之间的趋势来评估与身高的关系。在进行多重检验校正后,发现与身高有显著关联的有:两个与VDR基因相关的SNP(rs1544410(Bsml)和rs7975232(Apal))、一个与血清25(OH)D相关的SNP(DHCR7/NADSYN1基因上的rs3829251)、一个与血清钙相关的SNP(PTH基因上的rs1459015)以及一个与血清磷相关的SNP(ALPL基因上的rs1697421)。对于rs3829251,纯合子之间的身高平均差异为1.5 - 2.0厘米(P < 0.01),在所有测试的性别和年龄组中均可见,而对于其他SNP,差异小于1厘米。总之,几个与钙代谢相关的SNP与身高有关,尤其是DHCR7/NADSYN1基因上的rs3829251。