Keen R W, Woodford-Richens K L, Grant S F, Ralston S H, Lanchbury J S, Spector T D
St. Thomas' Hospital, London, UK.
Arthritis Rheum. 1999 Feb;42(2):285-90. doi: 10.1002/1529-0131(199902)42:2<285::AID-ANR10>3.0.CO;2-3.
To examine the relationship between a common polymorphism within intron 1 of the COL1A1 gene and osteoporosis in a nested case-control study.
We studied 185 healthy women (mean +/- SD age 54.3+/-4.6 years). Bone mineral density (BMD) was measured using dual x-ray absorptiometry, and fractures were determined radiographically. The COL1A1 genotype was assessed using the polymerase chain reaction and Bal I endonuclease digestion.
Genotype frequencies were similar to those previously observed and in Hardy-Weinberg equilibrium: SS 61.1%, Ss 36.2%, and ss 2.7%. Carriage of at least one copy of the "s" allele was associated with a significant reduction in lumbar spine BMD (P = 0.02) and an increased risk of total fracture (P = 0.04). Urinary pyridinoline levels were significantly elevated in those with the risk allele (P < 0.05).
These data support the findings that the COL1A1 gene polymorphism is associated with low BMD and fracture risk, and suggest a possible physiologic effect on total body turnover of type I collagen.
在一项巢式病例对照研究中，探讨COL1A1基因内含子1内的常见多态性与骨质疏松症之间的关系。
我们研究了185名健康女性（平均年龄±标准差为54.3±4.6岁）。使用双能X线吸收法测量骨密度（BMD），并通过X线摄影确定骨折情况。使用聚合酶链反应和Bal I核酸内切酶消化评估COL1A1基因型。
基因型频率与先前观察到的频率相似，处于哈迪-温伯格平衡：SS为61.1%，Ss为36.2%，ss为2.7%。携带至少一个“s”等位基因拷贝与腰椎骨密度显著降低（P = 0.02）和总骨折风险增加（P = 0.04）相关。风险等位基因携带者的尿吡啶啉水平显著升高（P < 0.05）。
这些数据支持COL1A1基因多态性与低骨密度和骨折风险相关的研究结果，并提示其对I型胶原蛋白全身周转率可能存在生理影响。
