Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.
Allergy. 2014 Feb;69(2):231-6. doi: 10.1111/all.12336. Epub 2013 Dec 20.
Both FCER2 and FCER1A encode subunits of IgE receptors. Variants in FCER1A were previously identified as major determinants of IgE levels in genome-wide association studies.
Here we investigated in detail whether FCER2 polymorphisms affect IgE levels alone and/or by interaction with FCER1A polymorphisms. To cover the genetic information of FCER2, 21 single-nucleotide polymorphisms (SNPs) were genotyped by Illumina HumanHap300 BeadChip (5 SNPs) and the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS; 14 SNPs) in at least 1303 Caucasian children (651 asthmatics) (ISAAC II/ MAGICS population); genotypes of two SNPs were imputed.
SNP rs3760687 showed the most consistent effect on total serum IgE levels (b [SE] = -0.38 [0.16]; P = 0.016), while FCER2 polymorphisms in general were predominantly associated with mildly-to-moderately increased IgE levels (50th and 66th percentiles). Gene-by-gene interaction analysis suggests that FCER2 polymorphism rs3760687 influences IgE levels mainly in individuals not homozygous for the risk allele of FCER1A polymorphism rs2427837, which belongs to the major IgE-determining tagging bin in the population.
FCER2 polymorphism rs3760687 affects moderately elevated total serum IgE levels, especially in the absence of homozygosity for the risk allele of FCER1A SNP rs2427837.
FCER2 和 FCER1A 均编码 IgE 受体亚单位。先前的全基因组关联研究发现，FCER1A 中的变异是 IgE 水平的主要决定因素。
我们在此详细研究了 FCER2 多态性是否单独以及通过与 FCER1A 多态性的相互作用影响 IgE 水平。为了涵盖 FCER2 的遗传信息，我们通过 Illumina HumanHap300 BeadChip（5 个 SNP）和基质辅助激光解吸/电离飞行时间质谱（MALDI-TOF MS；14 个 SNP）对至少 1303 名白种儿童（651 名哮喘患者）（ISAAC II/MAGICS 人群）进行了 21 个单核苷酸多态性（SNP）的基因分型；两个 SNP 的基因型进行了推断。
SNP rs3760687 对总血清 IgE 水平的影响最为一致（b [SE] = -0.38 [0.16]；P = 0.016），而 FCER2 多态性通常与轻度至中度升高的 IgE 水平相关（50 百分位和 66 百分位）。基因-基因相互作用分析表明，FCER2 多态性 rs3760687 主要影响 FCER1A 多态性 rs2427837 风险等位基因非纯合个体的 IgE 水平，后者属于人群中主要的 IgE 决定标记 bin。
FCER2 多态性 rs3760687 影响中等升高的总血清 IgE 水平，特别是在 FCER1A SNP rs2427837 风险等位基因非纯合的情况下。
