Liu Jian-min, Zhu Han-min, Zhu Xiao-ying, Dai Meng, Jiang Ling, Xu Man-yin, Chen Jia-lun
Department of Endocrinology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Zhonghua Fu Chan Ke Za Zhi. 2003 Jan;38(1):24-7.
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).
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.
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 haplotype 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 haplotypes (P = 0.036).
The introduction of ER gene Px haplotype in the analysis of IL-6 gene might identify individuals with a reduced bone mass more precisely.
研究白细胞介素-6(IL-6)基因多态性和雌激素受体(ER)基因多态性对骨密度(BMD)Z值的单独及联合作用。
采用双能X线吸收法对205名绝经后中国女性的腰椎(L2-4)和股骨颈(FN)骨密度进行分析。通过聚合酶链反应研究IL-6基因的多态性3'侧翼区以及ER基因PvuII和XbaI位点的等位基因变异。同时检测血清碱性磷酸酶、骨钙素和尿吡啶啉。
在我们的样本中,IL-6基因有D/D、D/E、C/D、C/C和E/E 5种基因型,205名女性中有193名是D/D或D/E型。D/D型和D/E型在L2-4或FN的骨密度上没有差异。对于这些IL-6 D/D和D/E基因型中的PvuII和XbaI多态性,与Pp相比,pp型的FN骨密度更高(P = 0.036),与Xx和xx基因型相比,XX型的腰椎骨密度更高(分别为P = 0.005和0.031)。没有Px单倍型的女性在L2-4的骨密度升高(P = 0.029),在FN的骨密度有升高趋势(P = 0.056)。将IL-6 D/D、D/E基因型和ER基因Px单倍型的女性合并分析,没有Px单倍型的DD型在L2-4的骨密度有高于有Px单倍型的DD型的趋势(P = 0.057),且显著高于有Px单倍型的DE*型(P = 0.036)。
在IL-6基因分析中引入ER基因Px单倍型可能更精确地识别骨量降低的个体。