目的探讨儿童钙代谢相关激素与雌激素受体(ER)及维生素D受体(VDR)基因多态性的关系。方法选取河南省某地140名8~12岁中国汉族健康儿童作为研究对象,抽取空腹外周血,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测ERα基因PvuⅡ,XbaⅠ以及VDR基因FokⅠ多态性;放免法测定血清骨钙素(OC)和降钙素(CT)浓度。结果携带ER PvuⅡ3种基因型儿童血清OC浓度分别为PP 5.82μg/L,Pp5.01μg/L,pp 6.21μg/L,差异有统计学意义(P〈0.05),携带纯合pp基因型儿童血清OC浓度高于另外2组儿童;血清Ca、CT浓度在ER PvuⅡ各基因型间差异无统计学意义(P〉0.05);携带VDR FokⅠ不同基因型儿童血清Ca浓度分别为ff2.71 mmol/L,Ff 2.39 mmol/L,FF 2.48 mmol/L,携带ff基因型儿童血清Ca浓度高于其余2种基因型儿童,差异有统计学意义(P〈0.05);血清CT和OC浓度在FokⅠ各基因型差异无统计学意义(P〉0.05);结论 ER PvuⅡ不同基因型可能影响血清OC浓度;血清钙浓度可能受VDR基因FokⅠ多态性的影响。
Objective To explore the relationship between calciotropic hormone levels and gene polymorphisms of estrogen receptor(ER) and vitamin D receptor among children.Methods Totally 140 healthy Chinese children aged 8-12 years living in Henan province were recruited.Polymerase chain reaction-restricted fragment length polymorphisms(PCR-RFLP)method was used to detect PvuⅡ and XbaⅠ polymorphisms of ERα gene and FokⅠ polymorphism of vitamin D receptor(VDR) gene.Calcitonin(CT)and osteocalcin(OC)levels in serum were measured using radioimmunoassay.Results Serum OC concentration of the children with different genotypes of ER PvuⅡ were 5.82 μg/L for PP,5.01 μg/L for Pp,and 6.21 μg/L for pp.Serum OC concentration of the children with pp genotype was significantly higher than those with PP and Pp genotypes(P〈0.05).However,the differences between serum Ca and serum CT were not observed in different ER PvuⅡ genotypes(P〉0.05 for all).There were no significant differences in serum CT and OC concentrations among children carrying different FokⅠ genotypes of VDR gene(P〉0.05).Serum Ca concentration of the children with different genotypes of VDR FokⅠ were 2.71 mmol/L for ff,2.39 mmol/L for Ff,and 2.48 mmol/L for FF.Serum Ca concentration in the children carrying ff genotype was significantly higher than that of the children carrying FF and Ff genotypes(P〈0.05).Conclusion This study provides the evidence of an association of ER PvuⅡ and VDR FokⅠpolymorphisms with osteocalcin and Ca in serum of children.