한국인 아토피피부염 환자에서 MBL 코돈 54와 프로모터 다형성
Polymorphism of Codon 54 and Promoter of Mannose-binding Lectin Gene in Korean Atopic Dermatitis Patients
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Abstract
Background: Atopic dermatitis (AD) is an IgE mediated hypersensitivity reaction, generally considered to be caused by interaction of genetic and environmental factors. Human mannose-binding lectin (MBL) belongs to a group of carbohydrate-binding plasma proteins, the so-called collectins. Deficiency of MBL seems to be related to AD with or without recurring skin infections, and arises from three structural gene mutations in exon 1(the B, C and D alleles; the normal allele is A) and/or the presence of a low efficiency promoter. Point mutation at codon 54 of the MBL gene, located on the long arm of chromosome 10, provisionally called B allele, has been implicated as candidate susceptibility gene in AD. Objective: The aim of this study was to evaluate the relationship of this polymorphism with plasma MBL concentration, total and specific IgE in Korean AD patients. Method: We measured total IgE by Latex Photometry Immuno Assay, specific IgE for Dermatophagoides(D) pteronyssinus and D. farinae were measured by Radioallergosorbent test and plasma levels of MBL by enzyme- linked immunoabsorbent assay. We performed a polymerase chain reaction-restriction fragment length polymorphism method of the codon 54 and promoter-550 region and sequence specific primers for a polymerase chain reaction of promoter-221 region of MBL gene on genomic DNA from 243 Korean patients with AD and 99 non-AD controls. Result: AD patients had significantly higher frequency of the HYA and LYB haplotype [P＜0.0001, odds ratio (or)= 1.5; odds ratio (or)=2.6] than the controls. The Polymorphism was not associated with the concentration of total and specific high in AD patients (P=0.03). Conclusion: Our results suggest that the codon 54 and promoter -550 and -221 regions of MBL gene polymorphism might be one of the genetic risk factors for AD in Korean.
참고문헌 (20)
- "Age-related serum immunoglobulin E levels in healthy subject and in patients with allergic disease", pp.305~13
- "J An Acad Dermatol 1982", pp.1~13
- "collagenous C-type lectins of the innate immume defense system", pp.67~73
- "the pluripotent molecule of the innate immune system", man(se-binding lectin), pp.532~40
- "Structure and evolutionary origin of the gene encoding a human serum mannose-binging protein", pp.763~71
- "Activation of the classical component pathway by mannose-binding protein in association with a novel C1s-like serine protease Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and south Africa", pp.1497 3169~75, Svejgaard A
- "A molecular basis of opsonic defect in immunodeficient children", pp.1569~70
- "Diallelic polymorphism may explain variants of blood concentrations of mannan-binding protein in Eskimos but not in black Africans", pp.403~12
- "Increased frequency of homozygosity of abnormal mannan-binding protein alleles in patients with suspected immunodeficiency", pp.941~3
- "High frequencies in African and non- African populations of independent mutations in the mannose binding protein gene", pp.709~15
- "A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein", pp.37~44
- "Mannan-binding lectin deficiency associated with recurrent cutaneous adscesses", pp.168~92
- "Total serum IgE level in Each age group of patients with atopic dermatitis", pp.507~12
- "Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein", pp.3013~20
- "The concentration of C-type lectin in human plasma increases during an acute phase response", pp.31~5
- "Distinct and overlapping functions of allelic forms of human mannose binding protein", pp.50~5
- "polymorphism associated with low MBL produrtion in patients with dermatomyositis", pp.394~9
- "polymorphism in Spanish systemic lupus erythematosus patients", pp.1009~12
- "Association of mannose-binding lectin genotype with cardiovascular abnormalities in Kawasaki disease", pp.1268~70
- "Mannose-binding lectin gene polymorphism and hepatitis B virus infection in Vietnamese patients", pp.119~25