摘要
目的探讨青少年特发性脊柱侧凸患者雌激素受体基因多态性与骨密度的关系。方法取青少年特发性脊柱侧凸女性患者92例,年龄10～19岁,Cobb角25°～134°,应用聚合酶链反应限制性片段长度多态(PCRRFLPs)的方法分析雌激素受体基因型,同时用双能X线骨密度吸收仪分别对其腰椎(L24)和股骨近端(股骨颈、大转子、Wards三角)的骨密度进行测量。结果特发性脊柱侧凸患者雌激素受体基因型PvuⅡ多态性PP,Pp,pp型分别为19.6%,46.7%,33.7%,XbaⅠ多态性XX,Xx,xx型分别为22.8%,33.7%,43.5%;XX型的腰椎、股骨大转子和Wards三角的骨密度明显低于xx型(P<0.05),而PvuⅡ基因的各基因型与骨密度无关;联合分析PvuⅡ和XbaⅠ位点,PPXX基因型的腰椎、股骨大转子和Wards三角的骨密度明显低于Ppxx和ppxx型(P<0.05)。结论雌激素受体XbaⅠ基因多态性与特发性脊柱侧凸患者的骨密度有关,PPXX基因型的骨密度较低,有助于较早发现特发性脊柱侧凸的低骨量者。
Objective To investigate the relationship between polymorphism of the estrogen receptor （ER） gene and bone mineral density （BMD） in adolescent idiopathic scoliosis. Methods Ninety-two adolescents with idiopathic scoliosis,aged 10-19 years and Cobb angle ranged from 25°-134°, were included in this study. BMD of the lumbar spine （L2-L4） and proximal femur （including the femoral neck, the greater trochanter and Ward＇s triangle） was measured by dual energy x-ray absorptiometry. Two polymorphic loci, Pvu Ⅱ and Xba 1 locus, of estrogen receptor were analyzed by polymerase chain reaction-restriction fragment length polymorphisms （PCR- RFLPs）. Results The distribution of ER genotypes in adolescent idiopathic scoliosis subject was PP（ 19.6% ）, Pp （46.7 % ）, pp （ 33.7 % ）, XX （ 22.8 % ）, Xx （ 33.7 % ） and xx （43.5 % ）. The frequencies of XX genotype in adolescents whose height 〉 160 cm and Cobb angle 〉 40° were greater than those whose height 〈 160 cm and Cobb angle 〈 40°（p 〈 0.05）. The BMD at lumbar spine and proximal femur （greater trochanter and Ward＇s triangle） of genotype XX was lower than that of genotype xx （ P 〈 0.05 ）, while no significant relationship was found between the Pvu Ⅱ polymorphism of ER and BMD. The BMD at lumbar spine and proximal femur （ greater trochanter and Ward＇s triangle） of genotype PPXX was lower than that of genotype Ppxx and ppxx （ P 〈 0.05）. Conclusions The Xba Ⅰ polymorphisms of ER has close relationship with the BMD in adolescent with idiopathic scoliosis, and those with the genotype PPXX has the lowest BMD which may be helpful in identifying the patients with osteopenia at early time in adolescent idiopathic scoliosis.
出处
《中国骨质疏松杂志》
CAS
CSCD
2006年第3期246-249,共4页
Chinese Journal of Osteoporosis
