Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China.
PLoS One. 2012;7(4):e35334. doi: 10.1371/journal.pone.0035334. Epub 2012 Apr 24.
Atopic diseases, such as atopic dermatitis (AD) and asthma, are closely related to clinical phenotypes with hypersensitivity, and often share some similar genetic and pathogenic bases. Our recent GWAS identified three susceptibility gene/loci FLG (rs11204971 and rs3126085), 5q22.1 (rs10067777, rs7701890, rs13360927 and rs13361382) and 20q13.33 (rs6010620) to AD. The effect of these AD associated polymorphisms in asthma is so far unknown. To investigate whether AD relevant genetic variants is identical to asthma and reveal the differences in genetic factors between AD and asthma in Chinese Han population, seven AD associated single nucleotide polymorphisms (SNPs) as well as 3 other SNPs (rs7936562 and rs7124842 at 11q13.5 and rs4982958 at 14q11.2) from our previous AD GWAS were genotyped in 463 asthma patients and 985 controls using Sequenom MassArray system. We found rs4982958 at 14q11.2 was significantly associated with asthma (P = 3.04×10(-4), OR = 0.73). We also detected one significant risk haplotype GGGA from the 4 SNPs (rs10067777, rs7701890, rs13360927 and rs13361382) at 5q22.1 in AD cases (P(correction) = 3.60×10(-10), OR = 1.26), and the haplotype was suggestive of risk in asthma cases in this study (P = 0.014, P(correction) = 0.084, OR = 1.38). These SNPs (rs11204971, rs3126085, rs7936562, rs712484 and rs6010620) at AD susceptibility genes/loci FLG, 11q13.5 and 20q13.33 were not associated with asthma in this study. Our results further comfirmed that 14q11.2 was an important candidate locus for asthma and demonstrated that 5q22.1 might be shared by AD and asthma in Chinese Han population.
特应性疾病，如特应性皮炎（AD）和哮喘，与过敏表型密切相关，并且经常具有一些相似的遗传和发病基础。我们最近的 GWAS 确定了三个易感性基因/位点 FLG（rs11204971 和 rs3126085）、5q22.1（rs10067777、rs7701890、rs13360927 和 rs13361382）和 20q13.33（rs6010620）与 AD 相关。这些 AD 相关的多态性在哮喘中的作用目前尚不清楚。为了研究 AD 相关的遗传变异是否与哮喘相同，并揭示中国汉族人群中 AD 和哮喘之间遗传因素的差异，我们使用 Sequenom MassArray 系统对 463 名哮喘患者和 985 名对照者进行了之前 AD GWAS 中的七个 AD 相关单核苷酸多态性（SNP）以及另外三个 SNP（rs7936562 和 rs7124842 在 11q13.5 和 rs4982958 在 14q11.2）的基因分型。我们发现 14q11.2 上的 rs4982958 与哮喘显著相关（P=3.04×10(-4)，OR=0.73）。我们还在 AD 病例中检测到 5q22.1 上的四个 SNP（rs10067777、rs7701890、rs13360927 和 rs13361382）的一个显著风险单倍型 GGGA（P(correction)=3.60×10(-10)，OR=1.26），并且该单倍型在本研究中提示哮喘病例存在风险（P=0.014，P(correction)=0.084，OR=1.38）。AD 易感基因/位点 FLG、11q13.5 和 20q13.33 上的这些 SNP（rs11204971、rs3126085、rs7936562、rs712484 和 rs6010620）在本研究中与哮喘无关。我们的结果进一步证实 14q11.2 是哮喘的一个重要候选基因座，并表明 5q22.1 可能在汉族人群中与 AD 和哮喘共享。
