Study on genetic susceptibility of the single nucleotide polymorphism of FCGR3A gene and systemic lupus erythematosus / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the role of FCGR3A gene in susceptibility to systemic lupus erythematosus (SLE) using family based studies.</p><p><b>METHODS</b>A total of 119 patients from 95 nuclear families, with SLE according to the American College of Rheumatology 1997 criteria were recruited. In addition, 316 family members of these patients were also genotyped. A family-based association study was used to explore the association between gene polymorphism and SLE. The authors studied the single nucleotide polymorphisms (SNP) encoding non-synonymous substitution in the cFCGR3A gene with respect to genetic susceptibility to SLE. The FCGR3A gene was genotyped with RFLP.</p><p><b>RESULTS</b>Among 119 SLE patients, the frequency of FCGR3A-72R/S, R and S allele were 39.4% and 60.6%; the frequency of FCGR3A R/S RR, RS and SS genotypes were 9.1%, 60.6% and 30.3%, respectively. Univariate (single marker) family-based association tests (FBATs) demonstrated that variant allele at the SNP(rs403016) in exon 3 of FCGR3A gene was significantly associated with genetic susceptibility to SLE in Additive Model(Z=2.544, P =0.01097) and Recessive Model(Z = 2.198, P = 0.02795). TDT analysis showed an excess of the allele of R from heterozygous parents to affected offspring (chi square was 9.30, P=0.0032).</p><p><b>CONCLUSION</b>The findings suggest that the FCGR3A gene may be the susceptible gene of SLE in Chinese population, and that the individual carrying FCGR3A 72R allele was significantly associated with increase of susceptibility to SLE.</p>