The Irish Affected Sib Pair Study of Alcohol Dependence: Study methodology and validation of diagnosis by interview and family history
The Irish Affected Sib Pair Study of Alcohol Dependence: Study methodology and validation of diagnosis by interview and family history
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DOI：
10.1097/01.alc.0000156085.50418.07
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发表时间：
2005-03-01
期刊：
影响因子：
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通讯作者：
Kendler, KS
中科院分区：
文献类型：
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作者：
Prescott, CA;Sullivan, PF;Kendler, KS
背景：本文是爱尔兰酒精依赖影响兄弟姐妹研究的第一篇报道，其目的是检测酒精依赖（AD）易感位点的基因组位置。本文描述了样本中先证者、兄弟姐妹和父母的表型特征，并检查了不同诊断信息来源之间的一致性，包括家族史（FH）评估的有效性。方法：对爱尔兰591个家庭的1414名个体进行结构化诊断访谈。使用酒精中毒遗传半结构化评估对1201名先证和受影响的兄弟姐妹进行了AD评估，对213名父母进行了改进版的DSM结构化临床访谈。先证者和兄弟姐妹也被评估饮酒史、合并症和其他临床特征。根据FH- research诊断标准，对其中1113名患者和3652名未接受采访的一级亲属进行了FH报告。结果：样本特征证实了受影响个体AD的严重程度。基于直接访谈的FH评分和诊断之间的一致性在父母-后代和兄弟姐妹-兄弟姐妹比较中都很高（例如，在截止范围内，阳性和阴性预测值为80%）。个体对其家庭成员在单个项目（1个月或更长时间的饮酒问题，四分频r = 0.86-0.98）、DSM-IV AD症状总数（多分频r = 0.86-0.96）和基于截止范围的分类（kappa = 0.75-0.80）上的一致性也很高。使用多个信息提供者只略微提高了分类准确性（6-10%）。结论：作者成功地收集了大量受影响的兄弟姐妹样本的数据，用于AD的分子遗传分析。阿尔茨海默氏症患者能够对其父母和成年兄弟姐妹的酒精中毒症状提供准确的评估。单个筛选项目的表现几乎和全量表一样好。从多个线人那里收集信息对于预测准确性的提高可能不具有成本效益。从受影响的举举人处收集的FH信息可作为酗酒家庭研究的诊断信息的宝贵来源。
Background: This article is the first report of the Irish Affected Sib Pair Study of Alcohol Dependence, whose goal is to detect the genomic location of susceptibility loci for alcohol dependence (AD). This article describes phenotypic characteristics of the probands, siblings, and parents included in the sample and examines agreement among different sources of diagnostic information, including the validity of family history (FH) assessment.Methods: Structured diagnostic interviews were conducted with 1414 individuals from 591 families ascertained in Ireland. AD was assessed among 1201 probands and affected siblings with use of the Semi-Structured Assessment for the Genetics of Alcoholism and among 213 parents with use of a modified version of the Structured Clinical Interview for DSM. Probands and siblings were also assessed for drinking history, comorbid disorders, and other clinical characteristics. FH reports based on FH-Research Diagnostic Criteria were obtained for 1113 of these individuals as well as for 3652 first-degree relatives who were not interviewed.Results: Sample characteristics confirm the severity of AD among the affected individuals. Agreement between FH ratings and diagnoses based on direct interviews was high for both parent-offspring and sibling-sibling comparisons (e.g., positive and negative predictive values > 80% for a range of cutoffs). Agreement among individuals about their family members was also high for a single item (1 month or more of drinking problems, tetrachoric r = 0.86-0.98), the total number of DSM-IV AD symptoms (polychoric r = 0.86-0.96), and classifications based on a range of cutoffs (kappa = 0.75-0.80). Use of multiple informants improved classification accuracy only slightly (6-10%).Conclusions: The authors successfully collected data for a large sample of affected sibling pairs for molecular genetic analysis of AD. Individuals with AD were able to provide accurate evaluations of alcoholism symptoms in their parents and adult siblings. A single screening item performed nearly as well as the full scale. Collecting information from multiple informants may not be cost effective for the gain in predictive accuracy. FH information collected from affected informants can be a valuable source of diagnostic information for family studies of alcoholism.