Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis
Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis
复制标题
病例对照数据的连锁不平衡分析：在广泛性侵袭性牙周炎中的应用
作者：
Chiara Scapoli;L. Trombelli;E. Mamolini;Andrew Collins
几项研究表明，参与白细胞介素(IL)-1基因簇多态性在牙周病风险中的作用。在本研究中，我们通过等位基因关联和构建2q13-14疾病候选区域的连锁不平衡（LD）图谱，检测了来自IL-1基因簇的多态性与广泛性侵袭性牙周炎（GAP）的关联。GAP组与对照组IL-1RN （VNTR）基因型分布差异有统计学意义（P=0.019）。我们还观察到一些证据表明GAP与IL-1B+3953多态性之间存在关联（P=0.039）。该区域的关联模式用LD图表示，确定了IL-1B+3953和IL-1B−511多态性之间的重组热点区域。与疾病相关的多位点模型给出了IL-1B+3953标记的峰值关联位置，尽管对峰值的支持并不显著。单倍型分析发现该地区IL-1B+ 3953-IL-1B−511单倍型的p值最低。识别IL-1B+3953和IL-1B - 511多态性之间的重组热点区域的存在，将对未来在该区域开发更高分辨率的SNP分析具有重要意义，该分析可用于该集群涉及的该区域和其他疾病。
Several studies have shown a role for the involvement of interleukin (IL)-1 gene cluster polymorphisms in the risk of periodontal diseases. In the present study, we tested polymorphisms, derived from genes of the IL-1 cluster, for association with generalized aggressive periodontitis (GAP) through both allelic association and by constructing a linkage disequilibrium (LD) map of the 2q13–14 disease candidate region. The IL-1RN (VNTR) genotype distribution observed was significantly different in GAP and control subjects (P=0.019). We also observed some evidence for an association between GAP and the IL-1B+3953 polymorphism (P=0.039). The pattern of association in the region, represented as an LD map, identifies a recombination hot area between the IL-1B+3953 and IL-1B−511 polymorphisms. Multilocus modelling of association with disease gives a location for the peak association at the IL-1B+3953 marker, although support for the peak is not significant. Haplotype analysis identifies a IL-1B+3953–IL-1B−511 haplotype as having the lowest P-value in the region. Recognition of the presence of a recombination hot area between the IL-1B+3953 and IL-1B−511 polymorphisms will have an important bearing on future efforts to develop higher resolution SNP analysis in this region for both this and other diseases for which this cluster is implicated.
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影响因子：
4.4
作者：
DEVLIN, B;RISCH, N
通讯作者：
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影响因子：
4.4
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通讯作者：
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影响因子：
4.3
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影响因子：
6.7
作者：
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通讯作者：
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