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血管瘤的家族聚集性。

Familial clustering of hemangiomas.

作者信息

Grimmer J Fredrik, Williams Marc S, Pimentel Richard, Mineau Geraldine, Wood Grant M, Bayrak-Toydemir Pinar, Stevenson David A

机构信息

Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA.

出版信息

Arch Otolaryngol Head Neck Surg. 2011 Aug;137(8):757-60. doi: 10.1001/archoto.2011.91.

Abstract

OBJECTIVES

To assess the degree of relationship among individuals with hemangiomas and to evaluate the relative risk (RR) for family members of individuals with hemangiomas.

DESIGN

Retrospective case-control study.

SETTING

Utah Population Database.

PARTICIPANTS

Data sets of individuals of different ages with International Classification of Diseases, Ninth Revision (ICD-9) codes for hemangiomas were created from sources having medical records linked to the Utah Population Database. Controls were selected who matched cases for sex, birth year, and birthplace inside vs outside of Utah. Ten controls were selected per case, and sampling was performed without replacement. Kinship analysis tools were used to identify pedigrees having excess individuals with hemangiomas.

MAIN OUTCOME MEASURE

Using conditional logistic regression analysis, RR for hemangiomas among several kinship classes was determined.

RESULTS

Identified were 2514 distinct cases 12 years or younger with ICD-9 code 228.01, and the RR for sibs in this group was significantly increased (RR, 2.52; P < .001). Seventy-three founder families had 5 or more affected descendants with cluster P values ≤ .01; familial standardized incidence ratios ranged from 1.64 to 9.50. Family sizes ranged from 546 to 22 291 descendants.

CONCLUSIONS

Sibs have increased RR for infantile hemangiomas, suggesting a potential genetic contribution to this likely multifactorial disease. Identification of large families with distantly related individuals will be helpful for future shared segment identification analyses.

摘要

目的

评估患有血管瘤的个体之间的关联程度,并评估血管瘤患者家庭成员的相对风险(RR)。

设计

回顾性病例对照研究。

地点

犹他州人口数据库。

参与者

根据与犹他州人口数据库相关联的医疗记录来源,创建了不同年龄段患有国际疾病分类第九版(ICD - 9)血管瘤编码的个体数据集。对照组的选择标准为性别、出生年份以及出生地(犹他州境内或境外)与病例匹配。每个病例选择10名对照,且抽样过程不重复。使用亲属关系分析工具来识别患有血管瘤个体过多的家系。

主要观察指标

使用条件逻辑回归分析确定几个亲属类别中血管瘤的RR。

结果

确定了2514例12岁及以下、ICD - 9编码为228.01的不同病例,该组中同胞的RR显著增加(RR,2.52;P <.001)。73个始创家族有5个或更多受影响的后代,聚类P值≤.01;家族标准化发病率范围为1.64至9.50。家族规模从546名后代到22291名后代不等。

结论

同胞患婴儿血管瘤的RR增加,表明这种可能的多因素疾病存在潜在的遗传因素。识别有远亲个体的大家庭将有助于未来的共享片段识别分析。

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