Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs
Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs
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DOI：
10.1002/hep.20654
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发表时间：
2005-05-01
期刊：
影响因子：
13.5
通讯作者：
Marschall, HU
中科院分区：
文献类型：
--
作者：
Katsika, D;Grjibovski, A;Marschall, HU
遗传和环境因素对症状性胆石病发病机制的影响仍不清楚。我们通过分析大量双胞胎来估计遗传和环境因素的相对重要性。为此，瑞典双胞胎登记处与瑞典住院出院登记处和死亡原因登记处建立了联系，对 1900 年至 1958 年间出生的 43,141 对双胞胎进行了症状性胆石病和胆石手术相关诊断。分别计算了男性、女性、同卵双胞胎和异性双胞胎以及异性双胞胎的一致性率、相关性和比值比。使用结构方程建模技术来估计遗传效应以及共享和非共享环境因素对症状性胆石病发展的贡献。我们发现，与异卵双胞胎相比，无论男性还是女性，同卵双胞胎的一致性和相关性都更高。值得注意的是，遗传力没有显着的性别差异。在完整模型中，双胞胎间表型变异的遗传效应占 25%（95% CI，9%-40%），共同环境效应占 13%（95% CI，1%-25%），独特环境效应占 62%（95% CI，56%-68%）。总之，我们的结果表明遗传性是有症状的胆结石疾病的主要易感因素，这与之前规模小得多的研究的结果一致。
The contribution of hereditary and environmental factors to the pathogenesis of symptomatic gallstone disease is still unclear. We estimated the relative importance of genetic and environmental factors by analyzing a large population of twins. For this purpose, the Swedish Twin Registry was linked with the Swedish inpatient-discharge and causes of death registries for symptomatic gallstone disease and gallstone surgery-related diagnoses in 43,141 twin pairs born between 1900 and 1958. Concordance rates, correlations, and odds ratios were calculated for males, females, monozygotic, and dizygotic twins, respectively, as well as for twin pairs of opposite sex. Structural equation modeling techniques were used to estimate the contributions of genetic effects as well as shared and non-shared environmental factors to the development of symptomatic gallstone disease. We found that concordances and correlations were higher in monozygotic compared with dizygotic twins, both for males and females. Of note, there were no significant sex differences in heritability. In the full model, genetic effects accounted for 25% (95% CI, 9%-40%), shared environmental effects for 13% (95% CI, 1%-25%), and unique environmental effects for 62% (95% CI, 56%-68%) of the phenotypic variance among twins. In conclusion, our results show heritability to be a major susceptibility factor for symptomatic gallstone disease, consistent with results from previous, much smaller studies.