소아 아토피피부염에서 Phospholipase D1의 SNP 발굴 및 연관성 = Detection of SNP of Phospholipase D1 in Children with Atopic Dermatitis

다국어 초록 (Multilingual Abstract)

Background: Phospholipase D (PLD) is a widely distributed enzyme that hydrolyzes phosphatidylcholine, a major phospholipids in the cell membrane, to form phosphatidic acid (PA) which acts by itself as a cellular messenger. PLD can also be transformed by PA phosphohydrolase into diacylglycerol (DAG), which is essential for the activation of protein kinase C (PKC). PLD has been shown to induce the proliferation of T cells and to activate by Der p 1 in peripheral blood mononuclear cells from atopic dermatitis. Single nucleotide polymorphism (SNP) has recently served as a key marker to discover the genetic mechanism of special chronic diseases. Methods: One hundred eighteen children with atopic dermatitis were recruited, and graded as 23 mild (<25), 48 moderate (25-50) and 47 severe (>50) by measuring SCORAD index. Genomic DNA were purified from blood and made into PCR primers attaching GC-Clamp, and 26 exons of PLD were amplified by PCR-DGGE (denaturing gradient gel electrophoresis). Results: Polymorphism was found in four subjects. Of them, three PLD1 cSNP (Exon23: G2658A, T2664A, G2684A) were detected in exon 23 of 26 exons of PLD1. Four cases among 118 subjects had cSNP of G2658A (3.4%), two T2664A cases (1.7%), one G2684A case (0.8%). There were no significant correlations between IgE and detected cSNP. Conclusion: Three PLD1 gene cSNPs (G2658A, T2664A, G2684A) were detected in the blood of children with atopic dermatitis. Among them, G2658A polymorphism seems to be correlated to the serum IgE level, but PLD1 cSNP does not appear to contribute to the pathogenic processing of atopic dermatitis. [Pediatr Allergy Respir Dis(Korea) 2007;17:173-182]