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首页> 外文期刊>Journal of Medical Genetics >Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults.
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Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults.

机译：血清IGE水平血清IGE水平血清IgE水平的缔合血清IGE水平的关联。

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BACKGROUND: Several studies have shown linkage of chromosome 12q 13-24 with atopy related phenotypes. Among candidate genes in this region is STAT6 (signal transducer and activator of transcription), which is essential for Th2 cell differentiation, recruitment, and effector function. METHODS: We evaluated six polymorphisms of STAT6 for evidence of associations with serum IgE levels and atopic diseases in a population based cross sectional cohort of 1407 German adults. Genotyping was performed using the matrix assisted laser desorption ionisation-time of flight mass spectrometry method. Haplotypes were estimated using the SAS/Genetics module, and population-derived IgE percentiles (50% IgE>53 kU/l, 66% IgE>99 kU/l and 90% IgE>307 kU/l) were modelled as outcome variables in haplotype trend regression analysis. RESULTS: All polymorphisms were genotyped successfully. Haplotype reconstruction revealed 8/64 possible haplotypes, reaching estimated frequencies of 1% or more. One polymorphism in intron 2 (rs324011) showed a significant association with total serum IgE (p = 0.015). A STAT6 risk haplotype for elevated IgE showing odds ratios of 1.7 (p = 0.015) for IgE cut-off 100 kU/l, and 1.54 (p = 0.032), 1.6 (p = 0.025), and 2.54 (p = 0.007) for IgE percentiles 50%, 66%, and 90%, respectively was detected. The increased risk of this haplotype was confirmed by linear haplotype trend regression on log transformed IgE values (p = 0.007). Analysis further revealed a risk haplotype for specific sensitisation and a risk haplotype for asthma. CONCLUSION: The data indicate that genetic variants within STAT6 contribute significantly to IgE regulation and manifestation of atopic diseases.
机译：背景：几项研究表明了染色体12q 13-24与特拉相关表型的联系。该区域中的候选基因是Stat6（转录的信号传感器和活化剂），这对于Th2细胞分化，募集和效应功能至关重要。方法：我们评估了STAT6的六种多态性，用于患有血清IgE水平和基于德国成年人的跨截面群体的血清IgE水平和特应性疾病的证据。使用基质辅助激光解吸离电离 - 飞行质谱法进行基因分型。使用SAS /遗传模块估计单倍型，群体衍生的IgE百分比（50％IgE> 53ku / L，66％IgE> 99ku / L和90％IgE> 307ku / L）被建模为结果变量单倍型趋势回归分析。结果：所有多态性都成功基因分型。单倍型重建揭示了8/64可能的单倍型，达到估计频率为1％或更高。 Intron 2（RS324011）中的一种多态性显示出与总血清IgE的显着相关性（P = 0.015）。对于升高的IgE，STAT6风险单倍型显示IgE截止100ku / L的1.7（p = 0.015）的大量比，1.54（p = 0.032），1.6（p = 0.025）和2.54（p = 0.007）检测到IgE百分位数50％，66％和90％。通过对数转化的IgE值的线性单倍型趋势回归证实了这种单倍型的风险增加（p = 0.007）。分析进一步揭示了针对特异性致敏的风险单倍型和哮喘风险单倍型。结论：数据表明，STAT6内的遗传变异显着促进了IgE调节和特应疾病的表现。

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