摘要
骨质疏松(osteoporosis,OP)在很大程度上受基因的影响。在OP的相关基因中,维生素D受体(VDR)基因、雌激素受体(ER)基因、Ⅰ型胶原基因及转化生长因子基因都是重要的候选基因。VDR基因中BB基因型者比Bb及bb基因型者的腰椎骨密度(bone mineral density,BMD)低,骨丢失率高。FokⅠ基因型与腰椎BMD降低有明显相关性,ff基因型者腰椎BMD<Ff基因型者<FF基因型者,且ff基因型者股骨骨丢失增加。ER基因与OP较密切的是PvuⅡ和XbaⅠ的多态性,PP基因型者腰椎(L1-L4)和股骨上端BMD的Z分值有降低倾向,且PP基因型者<Pp基因型者<pp基因型者;而Xx基因型则为XX基因型者>Xx基因型者>xx基因型者。Ⅰ型胶原基因与骨量呈显著相关性,COLIA1基因突变可致低骨量、骨脆性增加。转化生长因子β(TGF-β)基因对调节骨形成和骨吸收有重要作用,TGF-β基因中可发生碱基丢失,这种变异多见于OP患者。
Osteoporosis（OP） is effected by genes to some extent. Among related genes of osteoporosis,vitamin D receptor（VDR） gene, estrogen receptor（ER） gene, type I procollagen gene and transforming growth factor-β（TGF-β） gene are important ones related to the generation of OP. Among VDR genes, BB gene type has close relationship with low lumbar bone mineral density（BND） and high rate of bone loss as compared to Bb and bb gene types. Fok I gene type is also related to lumbar BMD,and lumbar BMD in people with ff gene type is lower than those with Ff gene type and much lower than those with FF gene type. Among ER genes, Pvu I1 and Xba I have close relationship with OP. The Z score of BMD of L1 to L4 and superior extremity of femora leans to decrease in those with PP gene type,and that in those with PP gene type is lower than those with Pp gene and much lower than those with pp gene type. But to Xx gene types,the Z score of BMD in those with XX gene type is higher than that of those with Xx gene type and much higher than those with xx gene type. Type I procollagen gene shows obvious relationship with bone mass. Genetic mutation of COLIA1 may decrease bone mass and increase bone friability. TGF-β gene plays an important role in regulating bone formation and bone resorption. Missing base pair of TGF-β gene can be observed in patients with OP.
出处
《中国骨伤》
CAS
2006年第9期573-576,共4页
China Journal of Orthopaedics and Traumatology
关键词
骨质疏松
基因
Osteoporosis
Genes
