【摘要】 目的　探讨白细胞介素 (IL) 6基因和雌激素受体 (ER)基因多态性对绝经后妇女骨密度的联合效应。方法　应用双能X线吸收测量法检测 2 0 5例绝经后妇女的腰椎和股骨颈骨密度 ;以聚合酶链反应 (PCR)扩增IL 6基因多态性区域 ,产物行 7%聚丙烯酰胺凝胶电泳 ,根据条带位置 ,以A～F等位基因命名 ;ER基因的PCR扩增产物经PvuII和XbaI内切酶酶切后 ,行 1 5 %琼脂糖凝胶电泳 ,其多态性分别用P和p(PvuII)及X和x(XbaI)表示。结果　 12位绝经后妇女的IL 6基因型为C/D、C/C和E/E型。 193例妇女的IL 6基因为D/D和D/E型 ,腰椎、股骨颈骨密度和骨生化指标等没有差异 ,ER基因为pp型妇女股骨颈骨密度显著高于Pp型 (P =0 0 3 6) ;XX型妇女的腰椎骨密度显著高于Xx型 (P =0 0 0 5 )和xx型妇女 (P =0 0 3 1) ,无Px单倍型 (PPXX、ppxx)妇女的腰椎骨密度明显高于有Px单倍型者 (PPxx、PPXx、Ppxx、PpXx) (P =0 0 2 9)。合并IL 6基因D/D、D/E型和ER基因Px单倍型妇女 ,DD 无Px单倍型者腰椎骨密度显著高于DE 有Px单倍型者 (P =0 0 3 6)。结论　同时检测ER基因Px单倍型和IL 6基因型 ,有助于准确发现绝经后妇女骨密度低者更多还原

【Abstract】 Objective To examine the individual and combined effects of interleukin 6 (IL 6) and estrogen receptor (ER) gene polymorphisms on the Z score of bone mineral density (BMD) Methods BMD at lumbar spine (L 2 4 ) and femoral neck (FN) were analyzed in 205 postmenopausal Chinese women by dual energy X ray absorptiometry Polymorphic 3′flanking region of IL 6 gene and the allelic variance in ER gene PvuII and XbaI sites were studied by polymerase chain reaction Serum alkaline phosphatase, osteocalcin and urinary pyridinolin were also measured Results There were D/D, D/E, C/D, C/C and E/E 5 genotypes of IL 6 gene in our samples,193 of 205 women were D/D or D/E types No difference of BMD at L 2 4 or FN was found between D/D and D/E types For the PvuII and XbaI polymorphisms in these IL 6 D/D and D/E genotypes, the FN BMD was higher in pp in comparison with Pp ( P =0 036) ,and lumbar spine BMD was higher in XX type, comparing with Xx and xx genotype ( P =0 005 and 0 031, respectively ) Women without Px haplotype had elevated BMD at L 2 4 ( P =0 029) and a trend for higher BMD at FN ( P =0 056) than those with it Combining the women with IL 6 D/D ,D/E genotypes and ER gene Px haplotypes, the L 2 4 BMD in those of DD *without Px haplotye showed a tendency to be higher than those of DD*with Px haplotype( P =0 057),and was significantly increased than those of DE* with Px haplotyes( P =0 036) Conclusion The introduction of ER gene Px haplotype in the analysis of IL 6 gene might identify individ uals with a reduced bone mass more precisely更多还原