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目的 骨质疏松是一种多基因疾病 ,本研究目的是探讨绝经后妇女的雌激素受体(ER)、白介素 6 (IL 6 )和Ⅰ型胶原α1(COLIA1)基因多态性与骨密度等指标的关系。方法 用DEXA检测 2 0 5例绝经后妇女的腰椎和股骨颈骨密度 ,用PCR RFLP方法检测ER基因PvuII和XbaⅠ多态性和Ⅰ型胶原α1(COLIA1)基因多态性 ;PCR扩增IL 6基因 3’端非翻译区的多态性区域。结果 ER基因PP、Pp和pp基因型频率分别为 13 7%、5 1 2 %和 35 1% ,pp型的绝经后妇女股骨颈骨密度Z值明显高于Pp型。ER基因XX、Xx和xx基因型分别占 6 8%、2 5 9%和 6 7 3%。XX基因型的妇女虽然停经时间更长 ,但腰椎骨密度仍高于Xx和xx型。发现了D/D、D/E、C/D、C/C和E/E5种IL 6基因型 ,93%以上的绝经后妇女属于D/D和D/E型。在绝经 10年以上的妇女中 ,D/E型的腰椎骨密度明显高于D/D型 ,且前者的体重指数更高。所有样本的COLIA1基因型检测结果都是无突变的纯合子SS。结论 ER基因型中的pp和XX型可能分别对股骨颈和腰椎有保护作用 ;IL 6基因多态性与停经时间较长的绝经后妇女腰椎骨密度有一定关系 ;COLIA1基因型可能不适于评估本地区绝经后妇女骨密度的差异。这些骨质疏松候选基因的意义尚有待在不同种族的人群进行更大样本的研究
OBJECTIVE: Osteoporosis is a polygenic disease. The purpose of this study was to investigate the relationship between the polymorphisms of estrogen receptor (ER), interleukin 6 (IL 6), collagen type 1 (COLIA1) gene and bone mineral density in postmenopausal women The relationship between indicators. Methods BMD of lumbar vertebral and femoral neck in 205 postmenopausal women was detected by DEXA. The polymorphisms of PvuII and Xba Ⅰ polymorphisms and COL1 gene polymorphism of ER gene were detected by PCR RFLP. The polymorphisms of IL 6 Gene 3 ’untranslated region of the polymorphic region. Results The frequencies of PP, Pp and pp genotypes of ER were 13 7%, 51 2% and 35 1%, respectively. The femoral neck BMD of pp type was significantly higher than that of Pp type. The XX, Xx and XX genotypes of ER gene accounted for 68%, 259% and 67 3%, respectively. XX genotype women, although longer menopause, but lumbar BMD is still higher than the Xx and xx type. D / D, D / E, C / D, C / C and E / E5 were found, and 93% of postmenopausal women were D / D and D / E. In menopausal women more than 10 years, D / E type of lumbar spine bone density was significantly higher than the D / D type, and the former body mass index higher. The COLIA1 genotypes of all samples were homozygous SS without mutation. Conclusion pp and XX of ER genotype may have protective effects on femoral neck and lumbar spine respectively. IL 6 gene polymorphism has some correlation with lumbar spine BMD of postmenopausal women with longer menopause duration. COLIA1 genotype may not be suitable for assessment Bone mineral density in postmenopausal women in this region. The significance of these osteoporosis candidate genes remains to be studied in larger populations in different ethnic groups