A Twin Study of Genetic Influences on Nephrolithiasis in Women and Men
A Twin Study of Genetic Influences on Nephrolithiasis in Women and Men
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DOI：
10.1016/j.ekir.2018.11.017
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发表时间：
2019-04-01
影响因子：
6
通讯作者：
Goldberg, Jack
中科院分区：
文献类型：
--
作者：
Goldfarb, David S.;Avery, Ally R.;Goldberg, Jack
背景：肾结石是一种受遗传和环境因素影响的复杂表型。此前，我们使用一对男性双胞胎样本发现了结石疾病的基因成分。我们现在报道一对女性和男性双胞胎样本中的基因对结石的贡献。方法：我们使用华盛顿州双胞胎登记处进行了一项关于肾结石的经典双胞胎研究。采用问卷调查的方法收集资料，获得肾结石患者的自述病史。采用单变量结构方程模型确定遗传因素、共同环境因素和独特环境因素的相对贡献率。结果：共有7053对有肾结石资料的同性伴侣。样本的平均年龄为39岁，男女相似。结石患病率女性为4.9%，男性为6.2%。我们发现遗传学和独特的环境(两者均为P<；0.05)对女性和男性患结石疾病的风险有显著贡献。共同的环境对男女都没有显著的贡献。调整年龄因素后，女性的遗传度为46%(95%可信区间0.36~0.56)，男性为57%(0.46~0.68)，差异有统计学意义(P<；0.05)。结论：女性肾结石的遗传度低于男性。这一发现可能在一定程度上解释了为什么造石者中男性多于女性。女性双胞胎表明，独特的环境对结石患病率的影响更大。造成这种影响的具体环境风险因素目前尚不清楚。
Background: Nephrolithiasis is a complex phenotype influenced by both genetic and environmental factors. Previously we found a genetic component to stone disease using a sample of male twin pairs. We now report on the genetic contribution to stones in a sample of female and male twin pairs.Methods: We conducted a classic twin study of kidney stones using the Washington State Twin Registry. Data were collected by questionnaire to obtain self-reported history of kidney stones. Univariate structural equation modeling was used to determine the relative contributions of additive genetics, common environment, and unique environment.Results: There were 7053 same-sex pairs with kidney stone data. The mean age of the sample was 39 years, similar in women and men. The prevalence of stones was 4.9% of women and 6.2% of men. We found significant contributions from genetics and the unique environment (P < 0.05 for both) for the risk for stone disease in women and men. There was no significant contribution of the common environment for either sex. After adjusting for age, heritability was 46% (95% confidence interval 0.36-0.56) in women and 57% (0.46-0.68) in men, which was significantly different (P < 0.05).Conclusions: Nephrolithiasis in women has a heritable component less than that we again demonstrate in men. This finding may in part explain why more stone formers are men than women. Women twins demonstrated a greater effect of the unique environment on stone prevalence. The specific environmental risk factors that account for this effect are not currently known.