https://scholars.lib.ntu.edu.tw/handle/123456789/529166
標題: | Clinical implication of the C allele of the ITPKC gene SNP rs28493229 in kawasaki disease: Association with disease susceptibility and BCG scar reactivation | 作者: | MING-TAI LIN JOU-KOU WANG Yeh J.-I. Sun L.-C. PEI-LUNG CHEN JIA-FENG WU Chang C.-C. Lee W.-L. Shen C.-T. Wang N.-K. Wu C.-S. Yeh S.-Z. CHUN-AN CHEN SHUENN-NAN CHIU MEI-HWAN WU |
公開日期: | 2011 | 出版社: | Lippincott Williams and Wilkins | 卷: | 30 | 期: | 2 | 起(迄)頁: | 148-152 | 來源出版物: | Pediatric Infectious Disease Journal | 摘要: | Background: A functional single nucleotide polymorphism (SNP) (rs28493229) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene has been linked to the susceptibility to Kawasaki disease (KD). The implication remains unclear. SUBJECTS AND Methods: Genotyping for the ITPKC polymorphism was conducted on 280 unrelated Taiwanese children with KD and 492 healthy ethnically and gender-matched controls. The clinical manifestations and laboratory data were systemically collected. Results: The GC and CC genotypes of ITPKC gene SNP rs28493229 were overrepresented in KD patients (GG:GC:CC was 236:43:1, C allele frequency: 8.04%) than those in the controls (GG:GC:CC was 454:37:1, C allele frequency: 3.96%; OR: 2.23, P = 0.001). In KD patients, those with GC or CC genotypes of SNP rs28493229 (19/44) were more likely to have reactivation at the Bacille Calmette-Gu?rin (BCG) inoculation site than those with GG genotypes (66/236; OR: 1.96, P = 0.044). Such association was particularly strong in patients aged <20 months (OR: 3.26, P = 0.017). The other clinical manifestations were not related to this SNP. There were 160 (57.1%) patients with coronary arterial lesions. The development and the severity of coronary arterial lesion were also not associated with this SNP. Comparison between patients with and without BCG reactivation revealed only one difference: patients with reactivation were younger. Conclusion: In a cohort from a population with the world's third highest incidence of KD, we demonstrated that the C-allele of ITPKC SNP rs28493229 is associated with KD susceptibility and BCG scar reactivation during the acute phase, although its frequency is lower than that in the Japanese cohort (22.6%), suggesting this SNP contributes to KD susceptibility through induced hyperimmune function reflected in the BCG reactivation. Copyright ? 2011 by Lippincott Williams & Wilkins. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-79551601032&doi=10.1097%2fINF.0b013e3181f43a4e&partnerID=40&md5=7f34ee5b8ae332f20c45a794c098e125 https://scholars.lib.ntu.edu.tw/handle/123456789/529166 |
ISSN: | 0891-3668 | DOI: | 10.1097/INF.0b013e3181f43a4e | SDG/關鍵字: | albumin; inositol trisphosphate 3 kinase; age; albumin blood level; allele; article; BCG vaccination; c allele; cervical lymphadenopathy; child; clinical assessment; clinical feature; comparative study; conjunctivitis; controlled study; coronary artery disease; disease association; disease predisposition; disease severity; DNA extraction; female; gene frequency; genetic association; genetic risk; genetic susceptibility; genotype; human; infant; major clinical study; male; medical record review; mucocutaneous lymph node syndrome; preschool child; priority journal; rash; scar formation; single nucleotide polymorphism; Taiwan; thrombocyte count |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。