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Quantitative linkage genome scan for atopy in a large collection of Caucasian families

机译:大量白种人家庭的定量连锁基因组扫描以检测特应性

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摘要

Quantitative phenotypes correlated with a complex disorder offer increased power to detect linkage in comparison to affected–unaffected classifications. Asthma is a complex disorder characterized by periods of bronchial obstruction and increased bronchial hyper reactivity. In childhood and early adulthood, asthma is frequently associated also with quantitative measures of atopy. Genome wide quantitative multipoint linkage analysis was conducted for serum IgE levels and percentage of positive skin prick test (SPTper) using three large groups of families originally ascertained for asthma. In this report, 438 and 429 asthma families were informative for linkage using IgE and SPTper which represents 690 independent families. Suggestive linkage (LOD ≥ 2) was found on chromosomes 1, 3, and 8q with maximum LODs of 2.34 (IgE), 2.03 (SPTper), and 2.25 (IgE) near markers D1S1653, D3S2322–D3S1764, and D8S2324, respectively. The results from chromosomes 1 and 3 replicate previous reports of linkage. We also replicate linkage to 5q with peak LODs of 1.96 (SPTper) and 1.77 (IgE) at or near marker D5S1480. Our results provide further evidence implicating chromosomes 1, 3, and 5q. The current report represents one of the biggest genome scans so far reported for asthma related phenotypes. This study also demonstrates the utility of increased sample sizes and quantitative phenotypes in linkage analysis of complex disorders.
机译:与受影响-未受影响的分类相比,与复杂疾病相关的定量表型提供了更高的检测连锁的能力。哮喘是一种复杂的疾病,以支气管阻塞和支气管高反应性增加为特征。在儿童期和成年早期,哮喘也经常与特应性的定量测量有关。对三组最初确定为哮喘的家庭进行了全基因组定量多点连锁分析,以测定血清IgE水平和皮肤点刺试验阳性率(SPTper )。在本报告中,代表690个独立家庭的438个和429个哮喘家庭使用IgE和SPTper 进行了联系。在标记D1S1653,D3S2322–D3S1764和D8S2324附近的1、3和8q染色体上发现了暗示性连锁(LOD≥2),最大LOD为2.34(IgE),2.03(SPTper )和2.25(IgE)。 , 分别。染色体1和3的结果重复了以前的连锁报道。我们还在标记D5S1480或附近复制了与5q的连锁,峰值LOD为1.96(SPTper )和1.77(IgE)。我们的结果提供了进一步的证据,暗示了染色体1、3和5q。本报告代表了迄今为止与哮喘相关的表型报道的最大的基因组扫描之一。这项研究还证明了在复杂疾病的连锁分析中增加样本量和定量表型的实用性。

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  • 来源
    《Human Genetics》 |2007年第1期|83-92|共10页
  • 作者单位

    Virginia Institute for Psychiatric and Behavioral Genetics Medical College of Virginia Virginia Commonwealth University Richmond VA USA;

    Virginia Institute for Psychiatric and Behavioral Genetics Medical College of Virginia Virginia Commonwealth University Richmond VA USA;

    Genetics Research Glaxo SmithKline 5 Moore Drive 27709 NC USA;

    Australian Neuromuscular Research Institute Experimental Molecular Medicine Group Perth Australia;

    Australian Neuromuscular Research Institute Experimental Molecular Medicine Group Perth Australia;

    Australian Neuromuscular Research Institute Experimental Molecular Medicine Group Perth Australia;

    Departments of Medicine and Epidemiology Mary Beryl Patch Turnbull Scholar Program Johns Hopkins University Baltimore MD USA;

    Ullevaal University Hospital Oslo Norway;

    Groningen University Hospital Groningen The Netherlands;

    Directorate of Child Health Academic Department of Pediatrics North Staffordshire Hospital Stoke on Trent UK;

    Division of Child Health University of Leicester Leicester UK;

    Center for Child Health Research University of Western Australia Perth Australia;

    Duke University Medical Center Durham NC USA;

    Pediatric Respiratory Unit Hippokration General Hospital Thessaloniki Greece;

    Foschungsinstitut an der Klinik für Kinderund Jugendmedizin Marien-Hospital Wesel Germany;

    Academic Unit of Respiratory Medicine University of Sheffield Sheffield UK;

    Department of Medicine University of Minnesota Medical School Minneapolis MN USA;

    Institute of Preventive Medicine Kommunehospitalet and Department of Respiratory Medicine Hvidovre University Hospital Hvidovre Copenhagen Denmark;

    Genetics Research Glaxo SmithKline 5 Moore Drive 27709 NC USA;

    Department of Child Health University of Aberdeen Royal Aberdeen Children’s Hospital Aberdeen UK;

    Genetics Research Glaxo SmithKline 5 Moore Drive 27709 NC USA;

    Genetics Research Glaxo SmithKline 5 Moore Drive 27709 NC USA;

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  • 入库时间 2022-08-18 01:51:34

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