FLG基因多态性与广东汉族特应性皮炎的相关性

Polymorphism in the filaggrin gene in Guangdong Han population with atopic dermatitis

目的通过对广东地区汉族特应性皮炎(AD)患者及正常人群丝裂蛋白(FLG)基因的分析,探讨FLG基因多态性与广东地区汉族AD发病风险的相关性,为本地区AD的发病机制、诊断和防治提供重要理论依据。方法选取广东地区汉族AD患者129例和广东地区汉族健康对照者119名做病例对照研究样本,采用PCR-LDR技术对FLG基因的5个SNPs位点R501X(rs61816761)、3321del A(rs192220970)、K4022X(rs1933064)、P478S(rs11584340)、T454A(rs2011331)进行基因分型检测。结果广东地区汉族人群FLG基因位点R501X(rs61816761)及3321del A(rs192220970)未检出基因多态性。广东地区汉族人群FLG基因位点K4022X(rs1933064)、P478S(rs11584340)、T454A(rs2011331)存在基因分型,而K4022X(rs1933064)位点的AG基因型相比野生型AA在伴发过敏性鼻炎和/或过敏性哮喘的AD患者和正常对照组之间差异有统计学意义(OR=2.587,95%CI:1.109~6.039,P=0.028),AG+GG基因型相比于AA基因型在伴发过敏性鼻炎和/或过敏性哮喘的AD患者和正常对照组之间差异有统计学意义(OR=2.492,95%CI:1.108~5.604,P=0.027)。rs1933064的最小等位基因G在伴发过敏性鼻炎和/或过敏性哮喘的AD患者和正常对照组之间差异有统计学意义(OR=2.143,95%CI:1.032~4.449,P=0.041)。结论广东地区汉族FLG基因SNPs位点rs1933064位点AG基因型、AG+GG基因型和最小等位基因G可能与广东汉族人群AD伴发鼻炎和/或哮喘的临床表型相关。

Objective To study the correlation between filaggrin（FLG）gene and Atopic dermatitis（AD）in Han population in Guangdong area,and provide important theoretical basis for pathogenesis,diagnosis and prevention of AD. Methods A total of 129 AD patients and 119 healthy controls were recruited from Guangdong province Han population. Venous blood samples were collected for genomic DNA extraction and subsequent batch genotyping. Five examined polymorphisms were genotyped by the polymerase chain reaction-ligase detection reactions（PCR-LDR）method. Results R501X（rs61816761） and 321delA（rs192220970）of FLG gene had no SNP variations. K4022X（rs1933064）,P478S（rs11584340）and T454A （rs2011331）of FLG gene in Guangdong Han population had SNP variations. The AG and AG＋GG genotypes were significantly different from AA genotypes（OR=2.587,95%CI：1.109～6.039,P=0.028 and OR=2.492,95%CI：1.108～5.604,P=0.027）. The G allele was significantly different from A allele（OR=2.143,95%CI：1.032～4.449,P=0.041）in AD with asthmatics and/or rhinitis from Guangdong province Han population. Conclusion The study suggested that the SNP rs1933064 had genotypes AG and AG＋GG;G allele might be associated with the AD of asthmatics and/or rhinitis.