Biomedical Research Institute, Shenzhen-PKU-HKUST Medical Center, No. 1120 Lianhua Road, Futian District, Shenzhen, Guangdong 518036, China.
Br J Dermatol. 2010 May;162(5):1038-43. doi: 10.1111/j.1365-2133.2010.09675.x. Epub 2010 Mar 1.
Atopic dermatitis (AD) is a chronic skin disease affecting more than 15% of children and 2% of adults. A strong connection between genetic factors and AD has been described for a long time. Histamine receptor H4 (HRH4) has been shown to be related to different kinds of allergic and autoimmune disorders. However, an association between HRH4 and AD has not yet been reported.
To examine a possible association between HRH4 and AD.
Genomic DNA from 301 patients with AD and 313 healthy controls was extracted and three exons of HRH4 were sequenced.
We found three new single nucleotide polymorphisms (SNPs) in HRH4 which were significantly associated with AD: ss142022671 [odds ratio (OR) 1.87, 95% confidence interval (CI) 1.24-2.81; P = 0.002], ss142022677 (OR 4.40, 95% CI 2.42-8.00; P = 1.5 x 10(-7)) and ss142022679 (OR 4.26, 95% CI 2.38-7.61; P = 1.3 x 10(-7)). The SNPs ss142022677 and ss142022679 were found to be in strong linkage disequilibrium (D' = 0.98; r(2) = 0.92). Two-SNP haplotype analysis (ss142022677 and ss142022679) showed that the major AA haplotype was protective against AD (OR 0.22, 95% CI 0.12-0.40; P = 3.1 x 10(-8)) and the minor TT haplotype was significantly associated with AD (OR 4.13, 95% CI 2.27-7.54; P = 6.6 x 10(-7)). In addition, in a three-SNP haplotype analysis (ss142022671, ss142022677 and ss142022679), the major TAA haplotype was protective against AD (OR 0.46, 95% CI 0.31-0.69; P = 0.0001), while the complementary ATT haplotype was found to be significantly associated with AD (OR 3.81, 95% CI 2.03-7.14; P = 8.3 x 10(-6)).
Polymorphisms of ss142022671, ss142022677 and ss142022679 in HRH4 are associated with AD.
特应性皮炎（AD）是一种影响超过 15%儿童和 2%成人的慢性皮肤病。遗传因素与 AD 之间存在很强的关联已经被描述了很长时间。组胺受体 H4（HRH4）已被证明与各种过敏和自身免疫性疾病有关。然而，HRH4 与 AD 之间的关联尚未被报道。
研究 HRH4 与 AD 之间可能存在的关联。
从 301 例 AD 患者和 313 名健康对照中提取基因组 DNA，并对 HRH4 的三个外显子进行测序。
我们在 HRH4 中发现了三个新的单核苷酸多态性（SNP），它们与 AD 显著相关：ss142022671[比值比（OR）1.87，95%置信区间（CI）1.24-2.81；P=0.002]、ss142022677（OR 4.40，95%CI 2.42-8.00；P=1.5×10(-7))和 ss142022679（OR 4.26，95%CI 2.38-7.61；P=1.3×10(-7))。SNP ss142022677 和 ss142022679 被发现存在很强的连锁不平衡（D'=0.98；r(2)=0.92）。双 SNP 单体型分析（ss142022677 和 ss142022679）显示，主要 AA 单体型对 AD 具有保护作用（OR 0.22，95%CI 0.12-0.40；P=3.1×10(-8))，而次要 TT 单体型与 AD 显著相关（OR 4.13，95%CI 2.27-7.54；P=6.6×10(-7))。此外，在三 SNP 单体型分析（ss142022671、ss142022677 和 ss142022679）中，主要 TAA 单体型对 AD 具有保护作用（OR 0.46，95%CI 0.31-0.69；P=0.0001），而互补 ATT 单体型与 AD 显著相关（OR 3.81，95%CI 2.03-7.14；P=8.3×10(-6))。
HRH4 中的 ss142022671、ss142022677 和 ss142022679 多态性与 AD 相关。
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