Goldfarb David S, Avery Ally R, Beara-Lasic Lada, Duncan Glen E, Goldberg Jack
Nephrology Division, Department of Medicine, NYU Langone Health, and NYU School of Medicine, New York, New York, USA.
Washington State Twin Registry, Washington State University, Spokane, Washington, USA.
Kidney Int Rep. 2018 Nov 29;4(4):535-540. doi: 10.1016/j.ekir.2018.11.017. eCollection 2019 Apr.
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.
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.
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 ( < 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 ( < 0.05).
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.
肾结石是一种受遗传和环境因素影响的复杂表型。此前我们通过男性双胞胎样本发现了结石病的遗传成分。我们现在报告女性和男性双胞胎样本中结石的遗传贡献情况。
我们利用华盛顿州双胞胎登记处对肾结石进行了经典的双胞胎研究。通过问卷调查收集数据以获取自我报告的肾结石病史。使用单变量结构方程模型来确定加性遗传、共同环境和独特环境的相对贡献。
有7053对同性双胞胎有肾结石数据。样本的平均年龄为39岁，女性和男性相似。结石患病率在女性中为4.9%，在男性中为6.2%。我们发现遗传因素和独特环境对女性和男性患结石病风险均有显著贡献（两者P均<0.05）。共同环境对两性均无显著贡献。调整年龄后，女性的遗传度为46%（95%置信区间0.36 - 0.56），男性为57%（0.46 - 0.68），两者有显著差异（P<0.05）。
女性肾结石的遗传成分低于我们再次在男性中所证明的。这一发现可能部分解释了为什么结石患者男性多于女性。女性双胞胎显示独特环境对结石患病率的影响更大。目前尚不清楚造成这种影响的具体环境危险因素。
