南方汉族人特应性皮炎中间丝聚合蛋白基因多态性检测与分析

Association of filaggrin gene polymorphism with atopic dermatitis in southern Chinese Han population

目的探讨中间丝聚合蛋白（filaggrin，FLG）基因多态性与南方汉族人特应性皮炎（atopic dermatitis，AD）的相关性。方法提取50例南方汉族AD患者及100名健康对照者的基因组DNA，采用PCR及直接测序法，对FLG基因已报道的13个单核苷酸多态性（3321delA、441delA、1249insG、E1795X、S3296X、R501X、2282de14、R2447X、S2889X、7945delA、3702delG、Q2417X、R4307X）进行测序。结果14例（28oA）AD患者检测到FLG3321delA多态性位点，6例（12％）AD患者检测到FLG441delA多态性位点，健康对照组无1例检测到该多态性位点。患者组及对照组均未检测到FLG（1249insG、E1795X、S3296X、R501X、2282del4、R2447X、S2889X、7945delA、3702delG、Q2417X、R4307X）基因多态性。结论FLG基因可能与南方汉族人群AD易感性相关。

Objective To investigate the association of filaggrin gene （FLG） polymorphism with atopic dermatitis （AD） in southern Chinese Han population. Methods The frequencies of the 13 known FLG gene single nucleotide polymorphism（SNPs）, including 3321delA, 441delA, 1249insG, E1795X, S3296X, RS01X, 2282del4, R2447X, S2889X, 7945delA, 3702delG, Q2417X, R4307X, were detected in a cohort of 50 AD patients and 100 control individuals using polymerase chain reaction （PCR） and DNA sequencing. Results FLG 3321delA and 441delA were detected in 14 （28%） and 6 （12%） AD patients, respectively. The other 11 SNPs were not detected in the patients. None of the 13 SNPs was detected in the controls. Conclusion The results suggested that the FLG gene might be associated with atopic dermatitis susceptibility in southern Chinese Han population.