| Background: The outcome and different clinical manifestation after HBV infection are influenced by many factors, such as HBV itself, the immunity and genetic susceptibility. T and B lymphocyte attenuator(BTLA) belongs to B7/CD28 family, this inhibitory pathway can restrain the activation of a variety of immune cells and immune function, leading to chronic HBV infection and viral replication, it plays an important role in the pathogenesis of chronic HBV infection. However, chronic HBV infection, as a kind of genetic predisposition disease, it is objective to exposure susceptibility to chronic HBV infection in genetic genealogy research. So the aim of this study was to explore the association between the polymorphism of BTLA gene and family genetic susceptibility of chronic HBV infection in Chinese Han population.AIM: To investigated the association between polymorphisms of BTLA gene and genetic susceptibility of chronic HBV infection family in the Chinese Han population.Methods: The single nucleotide polymorphisms(SNPs) of BTLA gene,rs2633562 and rs2952323 sites were genotyped by Multiplex SNa Pshot technique in all the family research personnel.The genotype and allele frequencies were calculated and analyzed. The association between the gene polymorphisms of BTLA gene and family genetic susceptibility to chronic HBV infection were studied in Chinese Han population.Results: The 668 subjects [431 patients(average age: 40.5±14.6 years) and 237 other family members(average age: 44.1±15.5 years)] from 188 qualified nuclear familieswere finally recruited. In these families, 84 families(44.68%) had both parents, 73 families(38.83%) had one single parent and 31 families(16.49%) had no available parents.The patients’ genotypes were used in the date analysis stratified by two SNPs genotypes. In rs2633562, the frequencies of AA, AG, GG gentypes were 50.9%, 48.0%, and 1.1%, respectively, the frequencies of A and G allele were 74.9% and 25.1%, respectively. Rs 2952323, the frequencies of CC, CG, GG gentypes were 8.3%, 48.9%, and 42.8%, respectively, the frequencies of A and G allele were 32.8% and 67.2% respectively. The genotype distribution of frequency was tested by chi-square test, accord with Hardy-Weinberg equilibrium(P>0.05). In single loci analysis, it showed that there were association between the G/G genotype in rs2952323 of BTLA and chronic HBV infection(Z=2.731, P=0.006308). The alleles of A in rs 2633562 were not association with chronic HBV infection by using three statistical analysis model(additive model: Z=1.229, P=0.219050; dominantmodel: Z=-0.252, P=0.800750; recessive model: Z=1.550, P=0.121108); Similarly, the alleles of G in rs2633562 were not associated with chronic HBV infection(additive model: Z=-1.229, P=0.219050; dominantmodel: Z=-1.550, P=0.800750; recessive model: Z=0.252, P=0.800750). In rs2952323, the alleles of C were not association with chronic HBV infection by using three statistical analysis model(additive model: Z =-2.689,P = 0.007174; dominant model: Z =-2.731, P = 0.006308; recessive model: Z =-0.905,P = 0.365423), but variant allele G at a SNP, rs2952323, BTLA gene were significantly associated with chronic HBV infection by using three statistical analysis model(additive model: Z=2.689, P=0.0007174;dominant model:Z=0.905, P=0.365423;ressive model: Z=2.731, P=0.006308). The Transmission disequilibrium test(TDT) and Sibpair disequilibrium test(SDT) analysis showed that no major alleles from heterozygous parents to infection offspring(P=1.000000, P=0.151590).Haplotype analysis showed that we observed four haplotype combinations [rs2633562/rs2952323: A/G(70.0%),G/C(15.4%), A/C(13.4%)and G/G(1.1%)], the haplotypes rs2633562-A/rs2952323-G explicated more frequent transmission to chronic HBV infection than others(additive model: P=0.001979;recessive model: P=0.004721), these datas indicated that the frequency of transmitted haplotype was associated with genetic susceptibility of chronic HBV infection.Conlusion: The gene polymorphisms of BTLA could participate in chronicity of HBV infection in Chinese Han population. |
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