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Linkage and association studies of atopy and the chromosome 11q13 region.

机译:特应性与染色体11q13区域的关联和关联研究。

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摘要

The clinical syndrome atopy is largely determined by genetic factors. In 1989, the first linkage of markers within and flanking the chromosomal region 11q13 and atopy was reported. In the following years, the gene coding for the beta chain of the high affinity IgE receptor was localised to this region and two polymorphisms in this gene have been shown to be associated with the atopic phenotype. We investigated two independent populations (population based and outpatient department) with different degrees of clinical symptoms. Using highly polymorphic markers we could find no evidence for linkage or allelic association of this particular genomic region to the atopic phenotype defined by enhanced IgE responsiveness (p>0.05). Neither did we succeed in finding either of the two polymorphisms described, nor could we identify any other polymorphisms within the gene. However, we found weak evidence for linkage in asthmatic sib pairs regarding maternal alleles (p=0.03). We conclude from our data that in our populations the gene for the beta chain of the high affinity IgE receptor is of minor importance for enhanced IgE responsiveness, and that it might influence atopy with clinical signs like asthma through maternally derived alleles.
机译:临床综合症特应性很大程度上由遗传因素决定。 1989年,报道了在染色体区域11q13和特应性基因之间以及两侧的标记物的首次连锁。在接下来的几年中,编码高亲和力IgE受体的β链的基因位于该区域,并且该基因的两个多态性已显示出与特应性表型有关。我们调查了两个具有不同程度临床症状的独立人群(基于人群和门诊患者)。使用高度多态性标记,我们找不到该特定基因组区域与IgE反应性增强所定义的特应性表型的连锁或等位基因关联的证据(p> 0.05)。我们既没有成功找到所描述的两种多态性,也没有发现基因中的任何其他多态性。但是,我们发现有关母亲等位基因的哮喘同胞对之间连锁的证据不足(p = 0.03)。从我们的数据中可以得出结论,在我们的人群中,高亲和力IgE受体的β链基因对于增强IgE反应性至关重要,并且可能通过母体衍生的等位基因影响具有临床症状(如哮喘)的特应性。

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