Peninsula NIHR Clinical Research Facility, Peninsula Medical School, Exeter.
Diabet Med. 2010 Feb;27(2):157-61. doi: 10.1111/j.1464-5491.2009.02913.x.
To investigate all-cause and cardiovascular mortality in subjects with diabetes caused by a mutation in the hepatocyte nuclear factor 1alpha gene (HNF1A).
We identified 39 British families with HNF1A mutations. Consenting individuals were asked details of age and cause of death of parents and siblings. Copies of death certificates were requested from the family or were obtained via the Offices for National Statistics.
Data were collated on 241 control subjects and 153 mutation carriers. Of those who died, 66% of mutation carriers died from a cardiovascular-related illness compared with 43% of control subjects (P = 0.02). Family members with HNF1A mutations died at a younger age than familial control subjects [all-cause hazard ratio, adjusting for sex and smoking status: 1.9 (95% confidence interval 1.2, 2.9, P = 0.006; cardiovascular hazard ratio: 2.3, confidence interval 1.3, 4.2, P = 0.006)].
We have shown that individuals known to have diabetes caused by a mutation in the HNF1A gene have an increased risk of cardiovascular mortality compared with their unaffected family members. As with other forms of diabetes, consideration should be given to early statin therapy despite a seemingly protective lipid profile.
研究肝细胞核因子 1α 基因（HNF1A）突变引起的糖尿病患者的全因死亡率和心血管死亡率。
我们鉴定了 39 个具有 HNF1A 突变的英国家庭。要求同意的个体详细说明父母和兄弟姐妹的年龄和死因。向家庭索要死亡证明的副本，或通过国家统计局获得。
共收集了 241 名对照受试者和 153 名突变携带者的数据。在死亡者中，66%的突变携带者死于心血管相关疾病，而对照组为 43%（P = 0.02）。携带 HNF1A 突变的家庭成员比家族对照受试者更早死亡[全因危险比，调整性别和吸烟状况后：1.9（95%置信区间 1.2，2.9，P = 0.006；心血管危险比：2.3，置信区间 1.3，4.2，P = 0.006)]。
我们已经表明，已知因 HNF1A 基因突变而患有糖尿病的个体与未受影响的家庭成员相比，心血管死亡率增加。与其他形式的糖尿病一样，即使血脂谱似乎具有保护作用，也应考虑早期使用他汀类药物治疗。
