Sillanpää Elina, Sipilä Sarianna, Törmäkangas Timo, Kaprio Jaakko, Rantanen Taina
Gerontology Research Center and Department of Health Sciences, University of Jyväskylä, Finland.
Department of Public Health and Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.
J Gerontol A Biol Sci Med Sci. 2017 Oct 12;72(11):1561-1568. doi: 10.1093/gerona/glw178.
The purpose of the study was to estimate the heritability of leukocyte telomere length (LTL) and lung function and to examine whether LTL and lung function share genetic or environmental effects in common.
386 monozygotic and dizygotic Finnish twin sisters (age 68.4±3.4 years) were included. Relative LTL was determined from peripheral blood DNA by qPCR. Lung function measures of FEV1, FVC, FEV1/FVC, and PEF were derived from spirometry. Genetic modeling was performed with MPlus statistical software.
Univariate analysis revealed that in LTL, 62% (95% confidence interval 50-72) of the variance was explained by additive genetic and 38% (28-50) by unique environmental factors. For FEV1, FVC, and PEF, the corresponding estimates were 65%-67% for additive genetic and 33%-35% for unique environmental factors. Across the sample, the phenotypic correlation between LTL and FEV1 was modest (r = .104, p = .041). Bivariate correlated factors model revealed that the genetic correlation between LTL and FEV1 was .18 (-0.19 to 0.64) and environmental correlation was -.10 (-0.84 to 0.55).
Both LTL and lung function variables are moderately to highly genetically determined. The associations between LTL and the lung function variables were weak. However, the positive genetic correlation point estimate gave minor suggestions that, in a larger sample, genetic factors in common might play a role in the phenotypic correlation between LTL and FEV1. Future studies with larger samples are needed to confirm these preliminary findings.
本研究旨在估计白细胞端粒长度（LTL）和肺功能的遗传力，并探讨LTL与肺功能是否共享共同的遗传或环境效应。
纳入386对芬兰单卵和双卵双胞胎姐妹（年龄68.4±3.4岁）。通过qPCR从外周血DNA中测定相对LTL。FEV1、FVC、FEV1/FVC和PEF的肺功能指标来自肺量计。使用MPlus统计软件进行遗传建模。
单变量分析显示，在LTL中，62%（95%置信区间50-72）的方差由加性遗传因素解释，38%（28-50）由独特环境因素解释。对于FEV1、FVC和PEF，加性遗传因素的相应估计值为65%-67%，独特环境因素的估计值为33%-35%。在整个样本中，LTL与FEV1之间的表型相关性适中（r = 0.104，p = 0.041）。双变量相关因素模型显示，LTL与FEV1之间的遗传相关性为0.18（-0.19至0.64），环境相关性为-0.10（-0.84至0.55）。
LTL和肺功能变量均受到中度至高度的遗传决定。LTL与肺功能变量之间的关联较弱。然而，正向的遗传相关性点估计给出了一些小提示，即在更大的样本中，共同的遗传因素可能在LTL与FEV1之间的表型相关性中起作用。需要进行更大样本的未来研究来证实这些初步发现。
