Yamada Y, Okuizumi H, Miyauchi A, Takagi Y, Ikeda K, Harada A
Department of Geriatric Research, National Institute for Longevity Sciences, Morioka, Obu, Japan.
Arthritis Rheum. 2000 Feb;43(2):452-60. doi: 10.1002/1529-0131(200002)43:2<452::AID-ANR28>3.0.CO;2-C.
To examine the possible relationship between a T-->C polymorphism at nucleotide position 29 of the transforming growth factor beta1 (TGFbeta1) gene and genetic susceptibility to radiographic spinal osteophytosis.
A total of 540 postmenopausal Japanese women were subjected to radiography of the spine and determination of bone mineral density (BMD) for the lumbar spine and total body. Changes in lumbar intervertebral discs were examined in 67 individuals with either osteoporosis or spinal osteophytosis by magnetic resonance imaging (MRI). TGFbeta1 genotype was determined with an allele-specific polymerase chain reaction assay. The serum concentration of TGFbeta1 was measured in 29 control subjects and in 36 patients with spinal osteophytosis.
Among all study subjects, the prevalence of radiographic spinal osteophytosis in individuals with the CC genotype was greater than that in those with the TC or TT genotype. Logistic regression analysis, adjusted for age, height, body weight, time since menopause, smoking status, body fat, lean mass, and either lumbar spine or total body BMD, demonstrated that the frequency of the C allele in subjects with spinal osteophytosis was significantly greater than that in those without this condition. Comparison among control, osteoporosis, and spinal osteophytosis groups also revealed that the C allele was more prevalent in subjects with osteophytosis than in controls, even after adjustment for BMD. In contrast, as previously shown, the frequency of the C allele was lower in osteoporosis patients than in controls. The intervertebral disc area and the ratio of disc area to vertebral body area, as determined by MRI, were also lowest in subjects with the CC genotype. The serum concentration of TGFbeta1 increased with the number of C alleles in both controls and patients with spinal osteophytosis.
The T29-->C polymorphism of the TGFbeta1 gene exhibited inverse patterns of association with genetic susceptibility to spinal osteophytosis and with osteoporosis. Although radiographic evaluation of osteophytes might not reflect the actual disease severity, the C allele, which protects against osteoporosis, may be a risk factor for genetic susceptibility to spinal osteophytosis.
研究转化生长因子β1（TGFβ1）基因第29位核苷酸处T→C多态性与脊柱骨质增生影像学遗传易感性之间的可能关系。
对540名日本绝经后女性进行脊柱X线摄影，并测定腰椎和全身的骨密度（BMD）。通过磁共振成像（MRI）检查了67例患有骨质疏松症或脊柱骨质增生的个体的腰椎间盘变化。采用等位基因特异性聚合酶链反应法测定TGFβ1基因型。在29名对照受试者和36例脊柱骨质增生患者中测量了TGFβ1的血清浓度。
在所有研究对象中，CC基因型个体的脊柱骨质增生影像学患病率高于TC或TT基因型个体。经年龄、身高、体重、绝经时间、吸烟状况、体脂、瘦体重以及腰椎或全身BMD校正后的逻辑回归分析表明，脊柱骨质增生患者中C等位基因的频率显著高于无此疾病的患者。对照、骨质疏松症和脊柱骨质增生组之间的比较还显示，即使在调整BMD后，骨质增生患者中C等位基因的患病率仍高于对照。相比之下，如先前所示，骨质疏松症患者中C等位基因的频率低于对照。MRI测定的椎间盘面积以及椎间盘面积与椎体面积之比在CC基因型个体中也最低。在对照和脊柱骨质增生患者中，TGFβ1的血清浓度均随C等位基因数量的增加而升高。
TGFβ1基因的T29→C多态性与脊柱骨质增生和骨质疏松的遗传易感性呈现相反的关联模式。尽管骨质增生的影像学评估可能无法反映实际疾病严重程度，但可预防骨质疏松症的C等位基因可能是脊柱骨质增生遗传易感性的危险因素。
