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Eosinophil associated genes in the inflammatory bowel disease 4 region:Correlation to inflammatory bowel disease revealed

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World Journal of Gastroenterology 2012年第44期18卷 6409-6419页

作者： Kristin Blom Jenny Rubin Jonas Halfvarson Leif Trkvist Anders Rnnblom Per Sangfelt Mikael Lrdal Ulla-Britt Jnsson Urban Sjqvist Lena Douhan Hkansson Per Venge Marie Carlson Department of Medical Sciences Clinical ChemistryUppsala University HospitalSE-75185 UppsalaSweden Division of Gastroenterology Department of Intestinal Medicinerebro University HospitalSE-70185 rebroSweden School of Health and Medical Sciences rebro UniversitySE-70185 rebroSweden IBD Clinical research group Karolinska University HospitalSE-17177 StockholmSweden Department for Clinical Science Intervention and TechnologyKarolinska University HospitalSE-17177 StockholmSweden Department of Medical Sciences Gastroenterology Research GroupUppsala UniversitySE-75185 UppsalaSweden Department of Medicine Karolinska InstitutetSE-17177 StockholmSweden

AIM： To study the association between inflammatory bowel disease （IBD） and genetic variations in eosinophil protein X （EPX） and eosinophil cationic protein （ECP）. METHODS： DNA was extracted from ethylene diamine tetraacetic acid blood of 587 patients with Crohn＇s disease （CD）, 592 with ulcerative colitis （UC） and 300 healthy subjects. The EPX405 （G 〉 C, rs2013109）, ECP434 （G 〉 C, rs2073342） and ECP562 （G 〉 C, rs2233860） gene polymorphisms were analysed, by the 5＇-nuclease allelic discrimination assay. For de- termination of intracellular content of EPX and ECP in granulocytes, 39 blood samples was collected and extracted with a buffer containing cetyltrimethylam- monium bromide. The intracellular content of EPX was analysed using an enzyme-linked immunosorbent as- say. The intracellular content of ECP was analysed with the UniCAP system as described by the manufacturer. Statistical tests for calculations of results were χ2 test, Fisher＇s exact test, ANOVA, Student-Newman-Keuls test, and Kaplan-Meier survival curve with Log-rank test for trend, the probability values of P 〈 0.05 were considered statistically ***： The genotype frequency for males with UC and with an age of disease onset of ≥ 45 years （n = 57） was for ECP434 and ECP562, GG = 37%, GC = 60%, CC = 4% and GG = 51%, GC = 49%, CC = 0% respectively. This was significantly different from the healthy subject＇s genotype frequencies of ECP434 （GG = 57%, GC = 38%, CC = 5%; P = 0.010） and ECP562 （GG = 68%, GC = 29%,CC = 3%; P = 0.009）. The genotype frequencies for females, with an age of dis- ease onset of ≥ 45 years with CD （n = 62）, was for the ECP434 and ECP562 genotypes GG = 37%, GC =52%, CC = 11% and GG = 48%, GC = 47% and CC = 5% respectively. This was also statistically different from healthy controls for both ECP434 （P = 0.010） and ECP562 （P = 0.013）. The intracellular protein concen- tration of EPX and ECP was calculated in μg/10^6 eosi- nophils and then correlated to the EPX 405 genotypes

关键词： Eosinophil derived neurotoxin rnase 2 rnase 3 Single nucleotide polymorphism Inflamma-tion bowel disease Crohn's disease Ulcerative colitis

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