Aim: To investigate the association between the programmed death-1(PD-1) polymorphisms and genetic susceptibility of chronic hepatitis B virus (HBV) infection in Chinese patients.
Methods: Two single nucleotide polymorphisms (SNPs), PD-1.1 G > A and PD-1.2 G > A, were genotyped in 539 patients with chronic HBV infection and 353 other family members (HbsAg-) from 256 nuclear families using polymerase chain reactiorestriction fragment length polymorphisms assay. The associations between PD-1 polymorphisms and genetic susceptibility of chronic HBV infection were analyzed usng the family-based association analysis method.
Results: No association or linkage was detected among 539 patients. Univariate (single-marker) family-based association tests demonstrated that PD-1 genotypes, alleles and transmitted haplotypes are not associated with chronic HBV infection (all with P value more than 0.05). Transmission/disequilibrium test and sibship disequilibrium test analysis showed no excess of the alleles from heterozygous parents to affected offspring (P = 0.688880, P = 1.000000 respectively).
Conclusion: The data demonstrated that PD-1.1 and PD-1.2 polymorphisms are not associated with chronic HBV infection in Chinese patients.
Keywords: Family-based association test; Genetic association study; Hepatitis B virus; Programmed death-1; Single nucleotide polymorphism.