Prevalence of CY282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
Prevalence of CY282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
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DOI：
10.1001/jama.285.17.2216
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发表时间：
2001-05-02
影响因子：
120.7
通讯作者：
Gallagher, ML
中科院分区：
文献类型：
--
作者：
Steinberg, KK;Cogswell, ME;Gallagher, ML
背景基于人群的疾病相关突变患病率估计。如血色素沉着症（HFE）基因突变，目的评估HFE基因C282 Y和H63 D突变在美国人群中的患病率。本研究基于1992 - 1994年第三次全国健康与营养调查第二阶段DNA库中的样本。结果C282 Y和H63 D突变的患病率估计值为0.26%，C282 Y和H63 D突变的患病率估计值为0.27%。（95%置信区间[CI]，0.12%-0.49%）; H63 D纯合性为1.89%（95% CI，1.48%-2.43%）;复合杂合性为1.97%（95% CI，1.54%-2.49%）。C282 Y杂合性（C282 Y/野生型）的患病率估计值在非西班牙裔白人中为9.54%，在非西班牙裔黑人中为2.33%，在墨西哥裔美国人中为2.75%。美国人群中C282 Y突变的患病率估计为5.4%。（95% CI，4.7%-6.2%）和13.5%（95%可信区间，结论非西班牙裔白人和黑人的HFE突变患病率估计值在预期范围内，但墨西哥裔和非西班牙裔白人的C282 Y突变患病率估计值在预期范围内。美国人比预期的要少。现在需要将突变数据与临床相关指标联系起来，如转铁蛋白饱和水平。
Context Population-based estimates of the prevalence of disease-associated mutations. such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening.Objective To estimate the prevalence of the HFE mutations C282Y and H63D in the US population.Design Cross-sectional population-based study of samples in the DNA bank from phase 2 of the Third National Health and Nutrition Examination Survey conducted from 1992 to 1994.Setting and Participants Genotyped samples of cells from a total of 5171 participants, cross-classified by sex, age, and race/ethnicity in the analysis.Main Outcome Measures Estimates of the prevalence of C282Y and H63D mutations.Results The prevalence of C282Y homozygosity is estimated to be 0.26% (95% confidence interval [CI], 0.12%-0.49%); 1.89% (95% CI, 1.48%-2.43%) for H63D homozygosity; and 1.97% (95% CI, 1.54%-2.49%) for compound heterozygosity. The prevalence estimates for C282Y heterozygosity (C282Y/wild type) are 9.54% among non-Hispanic whites, 2.33% among non-Hispanic blacks, and 2.75% among Mexican-Americans. The prevalence estimates of the C282Y mutation in the US population are 5.4% (95% CI, 4.7%-6.2%) and 13.5% (95% CI, 12.5%-14.8%) for the H63D mutation.Conclusions Estimates of prevalence of HFE mutations are within the expected range for non-Hispanic whites and blacks but the estimated prevalence of the C282Y mutation among Mexican-Americans is less than expected. Mutation data now need to be linked to clinically relevant indices, such as transferrin saturation level.