Heritability of scoliosis
Heritability of scoliosis
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DOI：
10.1007/s00586-011-2074-1
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发表时间：
2012-06-01
影响因子：
2.8
通讯作者：
Gerdhem, Paul
中科院分区：
文献类型：
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作者：
Grauers, Anna;Rahman, Iffat;Gerdhem, Paul
为了估计瑞典双胞胎登记处脊柱侧弯的遗传性。分析了瑞典双胞胎登记处64，578对双胞胎的脊柱侧弯自我报告数据。计算了单卵和双卵同性双胞胎的患病率、配对和先证者一致性以及四项相关性。在Mx软件中使用结构方程模型估计遗传方差（即遗传力）以及独特和共享环境方差的相对重要性。此外，双胞胎登记处的所有双胞胎与瑞典住院登记处的原发性脊柱侧凸的初步诊断相匹配，脊柱侧凸的患病率为4%。配对和先证者一致性为0.11/0.17单卵双胞胎和0.04/0.08同性双卵双胞胎。单卵双生子的四因素相关系数（95%CI）为0.41（0.33-0.49），双卵双生子的四因素相关系数（95%CI）为0.18（0.09-0.29）。Mx分析中最有利的模型估计加性遗传效应（95%CI）为0.38（0.18-0.46），独特环境效应为0.62（0.54-0.70）。共同的环境影响并不显著。在瑞典住院患者登记处，同卵双生子和异卵双生子的特发性脊柱侧凸的成对/先证者一致性分别为0.08/0.15和0/0。使用瑞典双生子登记处关于脊柱侧凸的自我报告数据，我们估计38%的易患性差异是由于遗传效应和62%的独特环境效应。这是第一个有足够规模的研究来估计脊柱侧凸的遗传力。
To estimate the heritability of scoliosis in the Swedish Twin Registry.Self-reported data on scoliosis from 64,578 twins in the Swedish Twin Registry were analysed. Prevalence, pair- and probandwise concordances and tetrachoric correlations in mono- and dizygotic same-sex twins were calculated. The relative importance of genetic variance, i.e. the heritability, and unique and shared environmental variance was estimated using structural equation modelling in Mx software. In addition, all twins in the twin registry were matched against the Swedish Inpatient Register on the primary diagnosis idiopathic scoliosis.The prevalence of scoliosis was 4%. Pair- and probandwise concordance was 0.11/0.17 for mono- and 0.04/0.08 for same-sex dizygotic twins. The tetrachoric correlation (95% CI) was 0.41 (0.33-0.49) in mono- and 0.18 (0.09-0.29) in dizygotic twins. The most favourable model in the Mx analyses estimated the additive genetic effects (95% CI) to 0.38 (0.18-0.46) and the unique environmental effects to 0.62 (0.54-0.70). Shared environmental effects were not significant. The pairwise/probandwise concordance for idiopathic scoliosis in the Swedish Inpatient Register was 0.08/0.15 for monozygotic and zero/zero for same-sex dizygotic twins.Using self-reported data on scoliosis from the Swedish Twin Registry, we estimate that 38% of the variance in the liability to develop scoliosis is due to additive genetic effects and 62% to unique environmental effects. This is the first study of sufficient size to make heritability estimates of scoliosis.