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1
Risk Factors for Insulin Resistance, Metabolic Syndrome, and Diabetes in 248 HFE C282Y Homozygotes Identified by Population Screening in the HEIRS Study.HEIRS研究中通过人群筛查确定的248例HFE C282Y纯合子发生胰岛素抵抗、代谢综合征和糖尿病的危险因素
Metab Syndr Relat Disord. 2016 Mar;14(2):94-101. doi: 10.1089/met.2015.0123. Epub 2016 Jan 15.
2
Screening for type 2 diabetes mellitus: a systematic review for the U.S. Preventive Services Task Force.2 型糖尿病筛查:美国预防服务工作组的系统评价。
Ann Intern Med. 2015 Jun 2;162(11):765-76. doi: 10.7326/M14-2221.
3
Serum ferritin, insulin resistance, and metabolic syndrome: clinical and laboratory associations in 769 non-hispanic whites without diabetes mellitus in the HEIRS study.血清铁蛋白、胰岛素抵抗与代谢综合征:HEIRS研究中769例无糖尿病的非西班牙裔白人的临床与实验室关联
Metab Syndr Relat Disord. 2015 Mar;13(2):57-63. doi: 10.1089/met.2014.0106. Epub 2014 Nov 25.
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Anti-obesity and pro-diabetic effects of hemochromatosis.血色素沉着症的抗肥胖和促糖尿病作用。
Obesity (Silver Spring). 2014 Oct;22(10):2120-2. doi: 10.1002/oby.20839. Epub 2014 Jul 14.
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Diagnosis and classification of diabetes mellitus.糖尿病的诊断与分类
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Using Effect Size-or Why the P Value Is Not Enough.使用效应量——为何P值并不足够。
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Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 nonscreening Alabama hemochromatosis probands with HFE C282Y homozygosity.一级亲属中的糖尿病:159 名 HFE C282Y 纯合子非筛查阿拉巴马血色病先证者中 2 型糖尿病的预测因子。
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Progression rates from HbA1c 6.0-6.4% and other prediabetes definitions to type 2 diabetes: a meta-analysis.从 HbA1c 6.0-6.4% 和其他糖尿病前期定义到 2 型糖尿病的进展率:一项荟萃分析。
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9
Prevalence, diagnosis, and treatment of impaired fasting glucose and impaired glucose tolerance in nondiabetic U.S. adults.美国非糖尿病成年人空腹血糖受损和葡萄糖耐量受损的流行率、诊断和治疗。
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How I treat hemochromatosis.我如何治疗血色病。
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HEIRS研究中C282Y纯合子和野生型对照人群中的未诊断糖尿病和空腹血糖受损情况。

Undiagnosed diabetes and impaired fasting glucose in C282Y homozygotes and wild-type controls in the HEIRS Study.

作者信息

Barton James C, Barton J Clayborn, Adams Paul C, Acton Ronald T

机构信息

Southern Iron Disorders Center, Birmingham, Alabama, USA; Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Southern Iron Disorders Center , Birmingham, Alabama , USA.

出版信息

BMJ Open Diabetes Res Care. 2016 Dec 26;4(1):e000278. doi: 10.1136/bmjdrc-2016-000278. eCollection 2016.

DOI:10.1136/bmjdrc-2016-000278
PMID:28074138
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5220276/
Abstract

OBJECTIVE

To determine prevalences and predictors of undiagnosed diabetes mellitus (UDM) and impaired fasting glucose (IFG) in non-Hispanic whites with p.C282Y homozygosity and controls without common mutations identified in population screening.

RESEARCH DESIGN AND METHODS

We analyzed these observations in a postscreening examination: age; sex; body mass index; systolic/diastolic blood pressure; metacarpophalangeal joint hypertrophy; hepatomegaly; blood neutrophils; alanine and aspartate aminotransferase; elevated C reactive protein; transferrin saturation; serum ferritin; and Field Center.

RESULTS

There were 223 p.C282Y homozygotes and 449 controls without diagnosed diabetes (43.9% men). Mean age of p.C282Y homozygotes was 52±13 years (controls 57±14 years; p<0.0001). Mean transferrin saturation in p.C282Y homozygotes was 67±26% (controls 34±14%; p<0.0001). Mean serum ferritin in p.C282Y homozygotes was 607 pmol/L (95% CI 497 to 517; controls 274 pmol/L (247 to 301); p<0.0001). Overall prevalences of UDM (4.0% vs 4.2%) and IFG (23.8% vs 25.6%) did not differ significantly between p.C282Y homozygotes and wt/wt controls, respectively. In logistic regressions, male sex, body mass index, and alanine aminotransferase were significantly associated with UDM. ORs were 2.7 (1.2 to 2.8); 1.0 (1.0 to 1.1); and 1.0 (1.0 to 1.0), respectively. Age, male sex, and body mass index were significantly associated with IFG. ORs were 1.0 (1.0 to 1.1); 2.8 (1.9 to 4.2); and 1.0 (1.0 to 1.1), respectively.

CONCLUSIONS

Prevalences of UDM and IFG were similar in p.C282Y homozygotes and controls in a postpopulation screening examination. Male sex was the strongest predictor of UDM and IFG.

摘要

目的

确定在非西班牙裔白人中,携带p.C282Y纯合子者以及在群体筛查中未发现常见突变的对照者中未诊断糖尿病(UDM)和空腹血糖受损(IFG)的患病率及预测因素。

研究设计与方法

我们在筛查后检查中分析了这些观察指标:年龄、性别、体重指数、收缩压/舒张压、掌指关节肥大、肝肿大、血液中性粒细胞、丙氨酸和天冬氨酸转氨酶、C反应蛋白升高、转铁蛋白饱和度、血清铁蛋白以及现场中心。

结果

有223名p.C282Y纯合子和449名未诊断糖尿病的对照者(男性占43.9%)。p.C282Y纯合子的平均年龄为52±13岁(对照者为57±14岁;p<0.0001)。p.C282Y纯合子的平均转铁蛋白饱和度为67±26%(对照者为34±14%;p<0.0001)。p.C282Y纯合子的平均血清铁蛋白为607 pmol/L(95%可信区间497至517;对照者为274 pmol/L(247至301);p<0.0001)。p.C282Y纯合子与野生型/野生型对照者中UDM的总体患病率(分别为4.0%对4.2%)和IFG的总体患病率(分别为23.8%对25.6%)无显著差异。在逻辑回归中,男性、体重指数和丙氨酸转氨酶与UDM显著相关。比值比分别为2.7(1.2至2.8);1.0(1.0至1.1);和1.0(1.0至1.0)。年龄、男性和体重指数与IFG显著相关。比值比分别为1.0(1.0至1.1);2.8(1.9至4.2);和1.0(1.0至1.1)。

结论

在群体筛查后检查中,p.C282Y纯合子与对照者中UDM和IFG的患病率相似。男性是UDM和IFG的最强预测因素。