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Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study

机译:血色素沉着症和铁超负荷筛查(HEIRS)家庭研究中血清铁的遗传度

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摘要

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 μg/L, men; SF 200 μg/L, women). Heritability (h2) 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 h2 (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 h2 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. Am. J. Hematol. 85:101–105, 2010. © 2009 Wiley-Liss, Inc.
机译:遗传力是观察到的可归因于遗传因素的人群个体性状变异的比例。血色素沉着病和铁超负荷筛选家族研究估计了血清铁含量的遗传度。先证者为HFE C282Y纯合子或非C282Y纯合子,其转铁蛋白饱和度升高(TS> 50%,男性; TS> 45%,女性),血清铁蛋白浓度(SF> 300μg/ L,男性; SF> 200μg/ L,女人)。通过TS的方差成分分析,SF的自然对数(ln)和不饱和铁结合能力(UIBC)估计遗传力(h 2 )。参与者(N = 942)是77%的白种人,10%的亚洲人,8%的西班牙裔和5%的其他种族/民族。平均年龄(SD)为49(16)岁; 57%是女性。对于HFE C282Y纯合子先证者及其家庭成员,排除由于HFE C282Y和H63D基因型以及测得的人口统计学和环境因素引起的变异,TS的残留h 2 (SE)为0.21(0.07),TS为0.37( ln SF为0.08),UIBC为0.34(0.08)(与零进行比较,所有P <0.0004)。对于非C282Y纯合子先证者组,ln SF的残留h 2 显着,值为0.64(0.26)(P = 0.0096)。总之,在排除已知的遗传和非遗传变异源之后,血清铁测定具有显着的遗传成分。上午。 J. Hematol。 85:101–105,2010。©2009 Wiley-Liss,Inc.

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  • 来源
    《AMERICAN JOURNAL OF HEMATOLOGY》 |2010年第2期|p.101-105|共5页
  • 作者单位

    Department of Epidemiology, University of California, Irvine, California;

    Southern Iron Disorders Center, Birmingham, Alabama;

    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota;

    Department of Veterans Affairs Long Beach Healthcare System, Long Beach, California|Division of Hematology/Oncology, Department of Medicine, University of California, Irvine, California;

    Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama;

    Department of Medicine, London Health Sciences Center, London, Ontario, Canada;

    Division of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, North Carolina;

    Department of Medicine, Howard University, Washington DC;

    Department of Nutritional Sciences and Toxicology, University of California, Berkeley, California;

    Division of Extramural Research, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland;

    Department of Psychology, Howard University, Washington DC;

    Department of Genetics, Kaiser Permanente, Northwest, Portland, Oregon;

    Division of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, North Carolina;

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