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The updated Swedish family-cancer database used to assess familial risks of prostate cancer during rapidly increasing incidence.更新后的瑞典家庭癌症数据库用于评估在发病率迅速上升期间前列腺癌的家族风险。
Hered Cancer Clin Pract. 2006 Dec 15;4(4):186-92. doi: 10.1186/1897-4287-4-4-186.
2
Prevalence and incidence of Type 2 diabetes and its complications 1996-2003--estimates from a Swedish population-based study.1996 - 2003年2型糖尿病及其并发症的患病率和发病率——基于瑞典人群研究的估计
Diabet Med. 2008 Oct;25(10):1178-86. doi: 10.1111/j.1464-5491.2008.02541.x.
3
Clinical risk factors, DNA variants, and the development of type 2 diabetes.临床风险因素、DNA变异与2型糖尿病的发生
N Engl J Med. 2008 Nov 20;359(21):2220-32. doi: 10.1056/NEJMoa0801869.
4
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Mol Cell Endocrinol. 2009 Jan 15;297(1-2):10-7. doi: 10.1016/j.mce.2008.10.002. Epub 2008 Oct 19.
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Genome-based prediction of common diseases: advances and prospects.基于基因组的常见疾病预测:进展与展望
Hum Mol Genet. 2008 Oct 15;17(R2):R166-73. doi: 10.1093/hmg/ddn250.
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The emerging genetic architecture of type 2 diabetes.2型糖尿病新出现的遗传结构。
Cell Metab. 2008 Sep;8(3):186-200. doi: 10.1016/j.cmet.2008.08.006.
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Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.评估18种效应大小适中的常见基因变异对2型糖尿病风险的综合影响。
Diabetes. 2008 Nov;57(11):3129-35. doi: 10.2337/db08-0504. Epub 2008 Jun 30.
8
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes.青少年单基因糖尿病、药物遗传学及其与2型糖尿病多因素形式的相关性。
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Resource use and costs of type 2 diabetes in Sweden - estimates from population-based register data.瑞典2型糖尿病的资源利用与成本——基于人群登记数据的估计
Int J Clin Pract. 2008 May;62(5):708-16. doi: 10.1111/j.1742-1241.2008.01716.x. Epub 2008 Mar 17.
10
Familiality of diabetes mellitus.糖尿病的家族性。
Exp Clin Endocrinol Diabetes. 2007 Nov;115(10):634-40. doi: 10.1055/s-2007-984443.

瑞典 2 型糖尿病的家族发病风险。

Familial risks for type 2 diabetes in Sweden.

机构信息

Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.

出版信息

Diabetes Care. 2010 Feb;33(2):293-7. doi: 10.2337/dc09-0947. Epub 2009 Nov 10.

DOI:10.2337/dc09-0947
PMID:19903751
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2809269/
Abstract

OBJECTIVE

Our aim was to characterize familial risks for type 2 diabetes by the type and number of affected family members, including half-siblings, adoptees, and spouses, to quantify risks and estimate the contribution of environmental effect.

RESEARCH DESIGN AND METHODS

Families were identified from the Multigeneration Register, and type 2 diabetic patients were obtained from the Hospital Discharge Register. Standardized incidence ratios were calculated for offspring with type 2 diabetes whose family members were hospitalized for type 2 diabetes at ages >39 years compared with those lacking affected family members.

RESULTS

The number of hospitalized type 2 diabetic patients was 157,549. Among 27,895 offspring, 27.9% had a parent or sibling also hospitalized for type 2 diabetes. The familial relative risk (RR) ranged from 2.0 to >30, depending on the number and type of probands. The highest RRs of type 2 diabetes were found in individuals who had at least two siblings affected by type 2 diabetes, irrespective of the parental disease. Adoptees showed no risk from adopted parents.

CONCLUSIONS

The study, the largest yet published, showed that familial RRs varied by the number and type of affected family member. However, much of the familial clustering remains yet to be genetically explained. The high risk should be recognized in clinical genetic counseling. The data from adoptees confirmed the genetic basis of the familial associations, but those from half siblings and spouses suggested that a smaller part of familial clustering may be accounted for by environmental factors.

摘要

目的

通过受影响家庭成员的类型和数量(包括同父异母或同母异父兄弟姐妹、领养子女和配偶)来描述 2 型糖尿病的家族风险,量化风险并估计环境效应的贡献。

研究设计和方法

从多代登记处中确定家庭,并从住院登记处获得 2 型糖尿病患者。与没有受影响家庭成员的患者相比,年龄 >39 岁时因 2 型糖尿病住院的患者的后代中患有 2 型糖尿病的标准化发病比(发病率比)进行了计算。

结果

住院的 2 型糖尿病患者人数为 157,549 人。在 27,895 名后代中,27.9%的患者的父母或兄弟姐妹也因 2 型糖尿病住院。家族相对风险(RR)范围为 2.0 至 >30,具体取决于先证者的数量和类型。无论父母是否患病,至少有两个兄弟姐妹患有 2 型糖尿病的个体患 2 型糖尿病的 RR 最高。领养子女从领养父母那里没有患病风险。

结论

该研究是迄今为止发表的最大规模的研究,表明家族 RR 随受影响家庭成员的数量和类型而变化。然而,大部分家族聚集仍有待遗传解释。在临床遗传咨询中应认识到这种高风险。领养子女的数据证实了家族关联的遗传基础,但同父异母或同母异父兄弟姐妹和配偶的数据表明,家族聚集的一小部分可能由环境因素引起。