Association of Single-Nucleotide Polymorphisms of the MBL2 with Atopic Dermatitis in Korean Patients
| Autor: | Hyung Jin Hahn, Dong Soo Yu, Jung Soo Kim, Young Bok Lee, Jin-Wou Kim, Soo Young Lee |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Single-nucleotide polymorphism
Dermatology Immunoglobulin E law.invention 030207 dermatology & venereal diseases 03 medical and health sciences Exon 0302 clinical medicine law Medicine Polymerase chain reaction Mannan-binding lectin Atopic dermatitis Innate immunity Mannose-binding lectin biology business.industry Haplotype Promoter MBL deficiency medicine.disease Immunology biology.protein Original Article business 030215 immunology |
| Zdroj: | Annals of Dermatology |
| ISSN: | 2005-3894 1013-9087 |
| Popis: | BACKGROUND Human mannose-binding lectin (MBL) is a serum lectin taking part in the innate immunity by opsonizing various microorganisms for phagocytosis. The MBL serum concentration is affected by several single-nucleotide polymorphisms (SNPs) in the promoter region of the MBL2 gene. OBJECTIVE The purpose of this study was to examine the relationship between MBL2 polymorphisms and atopic dermatitis (AD) susceptibility. METHODS To examine whether the MBL2 SNPs are related to AD susceptibility, we examined 237 patients with AD and 94 controls by polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-sequence specific primer analyses of four polymorphic loci: two (H/L and X/Y) within the promoter region and the other two (P/Q and A/B) within exon 1. MBL concentrations in the blood were estimated by ELISA. RESULTS The prevalence of haplotype HYPB, leading to MBL deficiency, was significantly decreased in the AD patients compared to the controls (p=0.002), while the prevalence of haplotype HYPA was increased with a clear trend toward significance (p=0.056). The frequency of MBL2 LYPB/LXPA (odds ratio, 0.08; 95% confidence interval, 0.009~0.655; p=0.021) were significantly decreased in the AD patients. The blood log [total immunoglobulin E, IgE] levels of MBL2 HYPA/HYPA, HYPA/LYPA, HYPA/LYPB, HYPA/LYQA, and LYQA/LXPA haplotype pairs were significantly increased in the AD patients. CONCLUSION The frequency of MBL2 HYPB haplotype was significantly decreased in the AD patients compared to the controls. The frequency of LYPB/LXPA had a possibly protective effect on AD. Moreover, the MBL2 HYPA haplotype pairs, which were related to higher blood total IgE levels, were possibly associated with extrinsic AD. |
| Databáze: | OpenAIRE |
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