%0 Journal Article
%T NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients
%A Nora Meggyesi
%A Lajos S Kiss
%A Magdalena Koszarska
%A Martin Bortlik
%A Dana Duricova
%A Laszlo Lakatos
%A Tamas Molnar
%A Martin Leni£¿ek
%A Libor V¨ªtek
%A Istvan Altorjay
%A Maria Papp
%A Zsolt Tulassay
%A Pal Miheller
%A Janos Papp
%A Attila Tordai
%A Hajnalka Andrikovics
%A Milan
%J World Journal of Gastroenterology
%D 2010
%I Baishideng Publishing Group Co. Limited
%X AIM: To investigate variants of immunity-related GTPase family M (IRGM) and NKX2-3 genes and genotype-phenotype in Eastern European patients with inflammatory bowel disease (IBD).METHODS: We analyzed 1707 Hungarian and Czech subjects with Crohn¡¯s disease (CD) (n = 810, age: 37.1 ¡À 12.6 years, duration: 10.7 ¡À 8.4 years) and ulcerative colitis (UC) (n = 428, age: 43.7 ¡À 15.0 years, duration: 12.6 ¡À 9.9 years), as well as 469 healthy controls. IRGM rs13361189, NKX2-3 rs10883365 and ECM1 rs13294 polymorphisms were tested by LightCycler allele discrimination. Detailed clinical phenotypes were determined by reviewing the medical charts.RESULTS: NKX2-3 rs10883365 variant allele was associated with increased risk for CD (P = 0.009, OR = 1.24, 95% CI = 1.06-1.48) and UC (P = 0.001, OR = 1.36, 95% CI = 1.13-1.63), whereas variant IRGM allele increased risk for CD (P = 0.029, OR = 1.36, 95% CI = 1.03-1.79). In contrast, ECM1 rs13294 was not associated with either CD or UC. In CD, the variant IRGM allele was associated with a colon-only location (P = 0.02, OR = 1.62, 95% CI = 1.07-2.44), whereas in UC, the ECM1 variant was associated with cutaneous manifestations (P = 0.002, OR = 3.36, 95% CI = 1.48-7.63). Variant alleles did not predict resistance to steroids or azathioprine, efficacy of infliximab, or need for surgery.CONCLUSION: NKX2-3 and IRGM are susceptibility loci for IBD in Eastern European patients. Further studies are needed to confirm the reported phenotype-genotype associations.
%K Crohn¡¯s disease
%K Ulcerative colitis
%K NKX2-3
%K Immunity-related GTPase family M
%K ECM1
%K Genotype
%K Phenotype
%K Pharmacogenetics
%U http://www.wjgnet.com/1007-9327/full/v16/i41/5233.htm