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世界核心医学期刊文摘（眼科学分册） 2005年第7期1卷 58-59页

作者： Assink j.j.M. Klaver C.C.W. houwing- duisterm-aat j. j. P.T.V.M. De j.ng 王海燕 Netherlands Ophthal. Res. Institute Meibergdreef47 1105 BA Amsterdam Netherlands

Obj.ctive: To assess the extent of heterogeneity of the genetic risk of age- related macular disease (AMD) among families. Design: Case- controlled population- based familial aggregation study. Participants: Participants comprised 190 first- degree relatives of 65 case probands and 347 relatives of 100 control probands. All probands had been identified from the baseline phase of the Rotterdam Study in The Netherlands. Methods: A family score was computed for each family based on the presence and type of macular disease, the expected risk of disease, and the number, extent of kinship, and age of all family members. Main Outcome Measures: Presence and stage of AMD as diagnosed on fundus photographs, family score, and logistic regression coefficient. Results: The family score of case families showed a peak of approximately 0 with a skewed tail (14% of families) of higher than expected risks of disease toward a maximum of 2.9. The family score of control families centered on 0, apart from 1 outlier. The risk of AMD increased significantly with higher family scores (β =1.34; P< 0.001). Conclusions: The heterogeneity of genetic risk among AMD families is considerable, and the proportion of high- risk families is relatively small. The family score method is relevant for genetic counseling as well as for implementation in studies of genetic dissection of AMD.

关键词：黄斑病变异质性黄斑疾病遗传分析先证者疾病风险一级亲属遗传咨询病例-对照研究回归系数

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Transition Logic Regression Method to Identify Interactions in Binary Longitudinal Data

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Open j.urnal of Statistics 2016年第3期6卷 469-481页

作者： Parvin Sarbakhsh Yadollah Mehrabi j.anine j. houwing-duistermaat Farid Zayeri Maryam Sadat Daneshpour Department of Statistics and Epidemiology School of Public Health Tabriz University of Medical Sciences Tabriz Iran Department of Epidemiology School of Public Health Shahid Beheshti University of Medical Sciences Tehran Iran Department of Medical Statistics and Bioinformatics Leiden University Medical Centre Leiden Netherlands Department of Biostatistics School of Paramedicine Shahid Beheshti University of Medical Sciences Tehran Iran Cellular and Molecular Endocrine Research Center Research Institute for Endocrine Sciences Shahid Beheshti University of Medical Sciences Tehran Iran

Logic regression is an adaptive regression method which searches for Boolean (logic) combinations of binary variables that best explain the variability in the outcome, and thus, it reveals interaction effects which are associated with the response. In this study, we extended logic regression to longitudinal data with binary response and proposed “Transition Logic Regression Method” to find interactions related to response. In this method, interaction effects over time were found by Annealing Algorithm with AIC (Akaike Information Criterion) as the score function of the model. Also, first and second orders Markov dependence were allowed to capture the correlation among successive observations of the same individual in longitudinal binary response. Performance of the method was evaluated with simulation study in various conditions. Proposed method was used to find interactions of SNPs and other risk factors related to low HDL over time in data of 329 participants of longitudinal TLGS study.

关键词： Logic Regression Longitudinal Data Transition Model Interaction TLGS Study Low HDL SNP

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朊病毒蛋白基因中缩胆囊素反复序列的插入与早发型痴呆的相关性研究

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世界核心医学期刊文摘（神经病学分册） 2005年第1期1卷 19-20页

作者： Croes E.A. Theuns j. houwing-duistermaat j.j. C.M. Van Duij. 罗勇 Dept. of Epidemiol. and Biostatist. Erasmus MC PO Box 1738 3000 DR Rotterdam Netherlands

Obj.ctives: The most common familial early onset dementia mutations are found in the genes involved in Alzheimer’ s disease; the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and 2) genes; the prion protein gene (PRNP) may be involved. Methods: Following identification of a two octapeptide repeat insertion in PRNP, we conducted a meta analysis to investigate the relation of number of PRNP octapeptide repeats with age at disease onset and duration of illness; identifying 55 patients with PRNP octapeptide repeat insertions. We used a linear mixed effects model to assess the relation of number of repeats with age at disease onset, and studied the effect of the number of inserted octapeptide repeats on disease duration with a Cox proportional hazards regression analysis. Results: We found an increasing number of repeats associated with younger age at onset (p j.sting for age at onset. Conclusions: Our findings showsignificant inverse associations of the length of the PRNP octapeptide repeat with age at disease onset and disease duration in the spongiform encephalopathies.

关键词：朊病毒蛋白缩胆囊素早发型复序列基因突变淀粉样前体蛋白入次数发病年龄混合效应模型回归模型分析

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