To explore the single nucleotide polymorphisms (SNPs) of co-stimulatory molecule B7-H3 gene in blood cells of patients with rheumatoid arthritis (RA) through the in vitro sequencing method and analyze the correlation between the SNPs and the susceptibility of RA.
We sequenced directly B7-H3 gene in 86 cases of RA patients and 73 cases of health controls, and then sequence specific primer-PCR (SSP-PCR) genotyping method was carried out in 377 cases of RA patients and 321 health controls for 6 sites of SNPs.
Six sites of SNPs 19 589[chr.73 992 036, 19 630(chr.73 992 077), 19 948(chr. 73 992 394), 19 956(chr. 73 992 602), 20 214(chr. 73 992 660), 28 969(chr. 73 993 889)] were found in the CDS region and some introns of B7-H3 gene. Apart from 28 969 site (chr. 73 993 889), the others had significant differences in the genotypic frequency and allelic frequency between RA patients and health controls (P<0.05).
Six sites of B7-H3 gene have SNP variations and five sites are related to the pathogenesis of RA in Han populations.