Association of endothelial nitric oxide synthase polymorphisms in primary biliary cirrhosis (PBC) patients and first degree relatives (FDR) of cretan origin

Abstract

48/91 Ludwig stage I-II and 101 FDR (63 female), median age 41 (age range 18-80 years), 3/101 ΑΜΑ+ and 20/101 ANA+ of Cretan origin. 100 sex, age and geography matched healthy controls (76 female), median age 69 years (39-86 years), 9/100 ANA+. Exon7 polymorphism was determined by PCR-restriction fragment-length polymorphism analysis. Intron4 polymorphism was determined using PCR amplifi cation with oligonucleotide primers. Distribution of genotypes and alleles was compared by x 2 test or Fisher's exact test. Conclusions In Cretan PBC patients both eNOs intron 4 VNTR and Glu298Asp in exon 7 eNOs polymorphism are not associated with disease occurrence or disease stage. Competing interests None.