Department of Epidemiology, University of California, Irvine, California 92697-7550, USA.
Am J Hematol. 2010 Feb;85(2):101-5. doi: 10.1002/ajh.21585.
Heritability is the proportion of observed variation in a trait among individuals in a population that is attributable to hereditary factors. The Hemochromatosis and Iron Overload Screening family study estimated heritability of serum iron measures. Probands were HFE C282Y homozygotes or non-C282Y homozygotes with elevated transferrin saturation (TS > 50%, men; TS > 45%, women) and serum ferritin concentration (SF > 300 microg/L, men; SF > 200 microg/L, women). Heritability (h(2)) was estimated by variance component analysis of TS, natural logarithm (ln) of SF, and unsaturated iron-binding capacity (UIBC). Participants (N = 942) were 77% Caucasians, 10% Asians, 8% Hispanics, and 5% other race/ethnicities. Average age (SD) was 49 (16) years; 57% were female. For HFE C282Y homozygote probands and their family members, excluding variation due to HFE C282Y and H63D genotype and measured demographic and environmental factors, the residual h(2) (SE) was 0.21 (0.07) for TS, 0.37 (0.08) for ln SF, and 0.34 (0.08) for UIBC (all P < 0.0004 for comparisons with zero). For the non-C282Y homozygote proband group, residual h(2) was significant with a value of 0.64 (0.26) for ln SF (P = 0.0096). In conclusion, serum iron measures have significant heritability components, after excluding known genetic and nongenetic sources of variation.
遗传度是指在一个人群中个体之间观察到的特征变异中归因于遗传因素的比例。遗传性血色素沉着症和铁过载筛查家族研究估计了血清铁测量的遗传度。先证者是 HFE C282Y 纯合子或非 C282Y 纯合子，转铁蛋白饱和度（TS > 50%，男性；TS > 45%，女性）和血清铁蛋白浓度（SF > 300μg/L，男性；SF > 200μg/L，女性）升高。通过对 TS、SF 的自然对数（ln）和未饱和铁结合能力（UIBC）的方差成分分析来估计遗传度（h(2)）。参与者（N = 942）中 77%为白种人，10%为亚洲人，8%为西班牙裔，5%为其他种族/民族。平均年龄（SD）为 49（16）岁；57%为女性。对于 HFE C282Y 纯合子先证者及其家庭成员，排除 HFE C282Y 和 H63D 基因型以及测量的人口统计学和环境因素的变异后，TS 的剩余 h(2)（SE）为 0.21（0.07），ln SF 为 0.37（0.08），UIBC 为 0.34（0.08）（所有 P 值均<0.0004 与零比较）。对于非 C282Y 纯合子先证者组，ln SF 的剩余 h(2)为 0.64（0.26），具有统计学意义（P = 0.0096）。总之，在排除已知遗传和非遗传变异源后，血清铁测量具有显著的遗传成分。
