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Evidence of an Inherited Predisposition for Spinal Cord Tumors

机译:脊髓肿瘤遗传易感性的证据

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Study Design:Retrospective study.Objectives:To determine familial clustering of primary spinal cord tumors using a statewide genealogy database.Methods:The Utah Population Database (UPDB) was queried using ICD-Oncology (International Classification of Diseases for Oncology) codes for primary spinal cord tumors. The hypothesis of disproportionate familial clustering was tested using the Genealogical Index of Familiality (GIF). The relative risks (RRs) in relatives were calculated using the ratio of observed spinal cord tumors to expected spinal cord tumors in relatives using estimated rates from the UPDB. The related clusters of spinal cord cancer cases with a significant excess number of spinal cord cancer cases descending from a common founder pair were identified using internal UPDB rates.Results:The analysis of the GIF for individual with tumors of the spinal cord showed excess close and distant relatedness (case GIF = 3.82; control mean GIF = 2.68; P = .068). Excess relatedness for spinal cord cancers was observed when only more distant relationships were considered (P = .019). The RRs for spinal cord tumors were elevated in second- and third-degree relatives but this did not reach statistical significance (RR = 2.9, P = .15, and RR = 2.0, P = .14). Multiple extended pedigrees with a significant excess of spinal cord cancer cases among the descendants were identified.Conclusions:The excess relatedness of tumor cases over controls in distant relationships, the higher RRs to distant relatives, and the discovery of high-risk pedigrees all suggest a familial predisposition to the development of spinal cord tumors.
机译:研究设计:回顾性研究。目的:使用全州谱系数据库确定原发性脊髓肿瘤的家族簇方法。方法:使用ICD-Oncology(国际肿瘤疾病分类)代码查询原发性脊柱脊髓犹他州人口数据库(UPDB)脐带瘤。使用家族谱系指数(GIF)检验了家族分布不成比例的假设。亲属的相对风险(RRs)使用亲属中观察到的脊髓肿瘤与预期的脊髓肿瘤的比率,使用来自UPDB的估计比率来计算。使用内部UPDB比率确定了由共同创始人对衍生的大量脊髓癌病例的相关脊髓癌病例群。结果:对患有脊髓肿瘤的个体进行的GIF分析显示,紧密和过度远距离相关性(案例GIF = 3.82;对照组平均GIF = 2.68; P = .068)。当仅考虑更远的关系时,观察到脊髓癌的过度相关性(P = .019)。二级和三级亲属的脊髓肿瘤RRs升高,但没有统计学意义(RR = 2.9,P = .15,RR = 2.0,P = .14)。结论:在远亲中,与对照相比,肿瘤病例与对照之间的过度相关性,远亲属的RR较高,以及高危谱系的发现,均表明存在一个后遗症。家族易患脊髓肿瘤。

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