Association of PBEF gene polymorphisms with acute lung injury, sepsis, and pneumonia in a northeastern Chinese population

Abstract Several studies have suggested that pre-B-cell colony-enhancing factor (PBEF) gene polymorphisms are associated with susceptibility to and prognosis of acute lung injury (ALI) in several populations of Caucasians. The aim of this study was to detect the distribution of PBEF alleles and to evaluate any potential relationship between PBEF polymorphisms and ALI, sepsis, and pneumonia in the Han population of Northeast China. Genotyping of two PBEF promoter single-nucleotide polymorphisms (SNPs), rs61330082 (C-1535T) and rs9770242 (T-1001G), were performed in patients with ALI (n=130), sepsis alone (n=107), bacterial pneumonia (n=195) and 150 healthy volunteers using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found no variation in the T-1001G allele of PBEF. The homozygous TT genotype was the only genotype. This result is different from that observed in Caucasians. The frequency of the -1543T allele was lower in patients with ALI and sepsis than that in healthy subjects ALI vs. healthy controls: OR=0.60, 95% CI 0.43-0.84, p=0.003; and sepsis vs. healthy controls: OR=0.69, 95% CI 0.49-0.99, p=0.04, respectively). The frequency of TT genotype of -1543T was significantly lower in patients with ALI and sepsis than in healthy subjects (ALI vs. healthy controls: OR=0.23, 95% CI 0.10-0.54, p=0.001; and sepsis vs. healthy controls: OR=0.36, 95% CI 0.15-0.83, p=0.02, respectively). This study suggested that -1543T allele might be a protective factor for ALI and sepsis, but it apparently had no connection with pneumonia in northeastern Chinese Han patients.