Abstract
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.
Highlights
Atopic diseases, such as atopic dermatitis (AD), asthma and allergic rhinitis (AR), are closely related to clinical phenotypes that are often observed with hypersensitivity
The difference in distribution of rs4982958 genotype between the asthma cases and controls was statistically significant (P = 5.9661025) (Table 3). Those single nucleotide polymorphisms (SNPs) locating within AD susceptibility gene/loci FLG, 5q22.1, 11q13.5 and 20q13.33 did not reach the threshold significant association for asthma (P.0.005, after Bonferroni Multiple Testing correction) (Table 2)
For the SNPs in FLG and 14q11.2, we found significant evidence for genetic heterogeneity between AD and asthma groups in this study (Phet#0.0031, I2$88.6) (Table 2)
Summary
Atopic diseases, such as atopic dermatitis (AD), asthma and allergic rhinitis (AR), are closely related to clinical phenotypes that are often observed with hypersensitivity. Asthma is documented being associated with atopic dermatitis [1]. Candidate gene and GWAS have identified several susceptibility loci/genes predisposing to AD and asthma. Some common genetic factors such as FLG, ADAM33, and GSDML/ ORMDL3 had been observed in patients with AD and asthma [3]. In one previous GWAS of AD in the European populations, 11q13.5 (C11orf30) was highlighted as a susceptibility locus of AD [6], which was pointed to contain a concurrent involvement of the common genetic factors for AD and asthma [7]. The genetic effect of these AD associated factors in asthma is unknown
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