지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 529 - 535 (7page)
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초록· 키워드
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Background: Atopic march (AM) is the progression from atopic dermatitis (AD) to allergic rhinitis and asthma. The development of AD is as high as 20% in children worldwide and continues to increase. AD seems to be caused by both genetic and environmental factors. Recently, polymorphisms of the thymic stromal lymphopoietin (TSLP) gene associated with allergic disorders were reported in ethnic groups from various countries. Objective: Identification of TSLP polymorphisms in Koreans with AD or AM. Methods: Wholeexome sequencing was performed in 20 AD and 20 AM patients. Results: Nine single nucleotide polymorphisms (SNPs) of TSLP were detected (rs191607411, rs3806933, rs2289276, rs2289277, rs2289278, rs139817258, rs11466749, rs11466750, rs10073816). These SNPs have been correlated with susceptibility to allergic diseases in ethnic groups from China, Japan, Turkey, and Costa Rica in previous studies. Remarkably, one of 20 patients in the AD group lacked all SNPs, compared to six of 20 patients in the AM group. Odds ratios showed that Korean patients without the nine TSLP variants had an 8.14 times higher risk of moving from AD to AM. Two haplotype blocks were validated in 60 AD and 59 AM patients using Sanger sequencing. The haplotype blocks (rs3806933 and rs2289276) and (rs11466749 and rs11466750) were in high linkage disequilibrium, respectively (D’=0.97, D’=1). Conclusion: The increase of major allele frequency of respective nine TSLP variants may enhance the risk of AM. These data will contribute to improved genetic surveillance system in the early diagnosis technology of allergic disease.
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참고문헌 (21)
참고문헌 신청
Nutten S / 2015 / Atopic dermatitis: global epidemiology and risk factors / Ann Nutr Metab 66(Suppl 1):8~16
Bjerg A / 2007 / Family history of asthma and atopy: in-depth analyses of the impact on asthma and wheeze in 7- to 8-year-old children / Pediatrics 120:741~748
Bantz SK / 2014 / The atopic march: progression from atopic dermatitis to allergic rhinitis and asthma / J Clin Cell Immunol 5
Li MX / 2013 / Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies / PLoS Genet 9:e1003143
Kryukov GV / 2007 / Most rare missense alleles are deleterious in humans: implications for complex disease and association studies / Am J Hum Genet 80:727~739
Bjerg A / 2007 / Family history of asthma and atopy: in-depth analyses of the impact on asthma and wheeze in 7- to 8-year-old children / Pediatrics 120:741~748
Bantz SK / 2014 / The atopic march: progression from atopic dermatitis to allergic rhinitis and asthma / J Clin Cell Immunol 5
Li MX / 2013 / Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies / PLoS Genet 9:e1003143
Kryukov GV / 2007 / Most rare missense alleles are deleterious in humans: implications for complex disease and association studies / Am J Hum Genet 80:727~739
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