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

作者：McLaren Christine E^*; Barton James C; Eckfeldt John H; McLaren Gordon D; Acton Ronald T; Adams Paul C; Henkin Leora F; Gordeuk Victor R; Vulpe Chris D; Harris Emil L; Harrison Barbara W; Reiss Jacob A; Snively Beverly M

来源：American Journal of Hematology, 2010, 85(2): 101-105.

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 mu g/L, men; SF > 200 mu g/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 In 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 In 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.

• 出版日期2010-2