The genetic and environmental contribution to the occurrence of bladder pain syndrome: an empirical approach in a nationwide population sample.
The genetic and environmental contribution to the occurrence of bladder pain syndrome: an empirical approach in a nationwide population sample.
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DOI：
10.1016/j.eururo.2010.10.028
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发表时间：
2011-02
期刊：
影响因子：
23.4
通讯作者：
Pedersen, Nancy L.
中科院分区：
文献类型：
--
作者：
Altman, Daniel;Lundholm, Cecilia;Milsom, Ian;Peeker, Ralph;Fall, Magnus;Iliadou, Anastasia N.;Pedersen, Nancy L.
膀胱疼痛综合征（BPS）的病因仍然知之甚少，并提出了一些致病机制。遗传因素对BPS的重要性正受到越来越多的关注，但迄今为止的数据是初步的。在一个基于人群的双胞胎样本中，对遗传和环境对BPS的影响进行实证评估。该研究包括1959年至1985年出生的25000对双胞胎。根据瑞典双胞胎登记处在全国范围内筛查复杂疾病的自我报告症状，使用潜在类别聚类分析（LCCA）确定BPS患者。通过比较同卵双胞胎和异卵双胞胎，我们估计了双胞胎的相似性和表型变异的遗传和环境因素造成的相对比例。测量了双胞胎的相似性。LCCA得出男性和女性的总体BPS患病率分别为1.1%和2.4%。在男性中，遗传效应对BPS的贡献无法评估，因为一致的双胞胎对的数量很少。在女性中，双胞胎相似性估计表明BPS病因的遗传成分，但遗传因素对BPS易感性的总变异贡献不到三分之一。非共享的环境因素占方差的三分之二以上，而家庭内部共享的早期非遗传因素对以后生活中发展BPS的风险影响很小或没有影响。使用自我报告的症状来定义疾病表型是本研究的局限性。环境因素对女性BPS发展的影响是巨大的，而遗传因素对发展这种疾病的可能性的重要性很小。
The aetiology of bladder pain syndrome (BPS) remains poorly understood, and a number of pathogenic mechanisms have been proposed. The importance of genetic factors for BPS is receiving growing attention, but data so far are of a preliminary nature. To empirically assess the genetic and environmental contribution to BPS in a population-based sample of twins. The study included >25 000 twins born between 1959 and 1985. Individuals with BPS were identified using latent class cluster analysis (LCCA) based on self-reported symptoms from a nationwide screening for complex diseases in the Swedish Twin Registry. By comparing monozygotic and dizygotic twins, we estimated twin similarity and the relative proportions of phenotypic variance resulting from genetic and environmental factors. Twin similarity was measured. The LCCA yielded an overall BPS prevalence of 1.1% and 2.4% for males and females, respectively. In males, the contribution of genetic effects to BPS could not be assessed because of the small number of concordant twin pairs. In women, twin similarity estimates indicated a genetic component for the aetiology of BPS, but genetic factors contributed less than one-third of the total variation in susceptibility to BPS. Nonshared environmental factors accounted for more than two-thirds of the variance, whereas early nongenetic factors shared within the family were of little or no consequence to the risk of developing BPS later in life. Use of self-reported symptoms to define the disease phenotype is a limitation of the study. The influence of environmental factors in the development of BPS in women is substantial, whereas genetic influences are of only modest importance for the possibility of developing the disease.
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影响因子：
6.6
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