FCRL5基因多态性对安徽省汉族人群强直性脊柱炎易感性及临床表现型的影响

Study of the FCRL5 gene single nucleotide p olymorphism in patients with ankylosing spondylitis

目的探讨FCRL5基因中rs6427384和rs12036228位点单核苷酸多态性（SNP）对强直性脊柱炎（AS）易感性和临床表现型的影响。方法收集安徽汉族人群AS患者169例和健康对照184名，采用基于高温连接酶的连接酶检测反应（LDR）-聚合酶链反应（PCR）方法检测其FCRL5基因中rs6427384和rs12036228位点的SNP，分析比较其等位基因频率及基因型频率在患者组和对照组中的分布，并比较不同基因型AS患者的临床表现型的差别。采用x2检验和方差分析进行统计学处理。结果AS患者组和对照人群中rs6427384位点C等位基因频率（17．3％，25．0％）和T等位基因频率（82．7％，75．0％）及rs12036228位点C等位基因频率（92．3％，87．2％）和T等位基因频率（7．7％，12．8％）分布差异均有统计学意义（P〈0．05）。FCRL5基因rs6427384位点CC、CT和TT基因型频率在AS组（3．7％、27．2％和69．1％）和对照组（3．9％、42．2％和53．9％）之间的分布差异有统计学意义（x2=8．7637，P=0．0125）。AS患者组rs6427384位点各基因型间骶髂关节X线分期（x2=34．159，P=0．0001）、疾病首发症状（腰痛或外周关节炎）发生率（X2=7．254，P=O．027）、晨僵持续时间（F=4.159，P=0．018）、BathAS疾病活动指数（BASDAI）平均积分（心．461，P=0．014）差异均有统计学意义。AS患者组rs12036228位点各基因型间仅在疾病首发症状上有明显不同（x2=6．640，P=0．036）。结论安徽籍汉族人群AS易感性与FCRL5基因rs6427384和rs12036228位点单核苷酸多态性有关；其基因型的不同对AS的临床表现型有影响。

Objective To investigate the association between the FCRL5 gene （rs6427384 and rs12036228） single nucleotide polymorphism（SNP） and patients with ankylosing spondylitis （AS）. Methods SNP of FCRL5 gene （rs6427384 and rs12036228） was analyzed in 169 patients with AS and 184 healthy controls by ligase detection reaction based on high temperature （LDR）-PCR. The distribution of FCRL5 genotypes and allele frequencies were detected between the two groups. Chi-square test, one-way ANOVA were used for statistical analysis. Results Significant differences were found in the distribution of allele frequencies of FCRL5 gene between AS patients and health controls （P〈0.05）. The C allele frequencies of FCRL5 gene at positions of rs6427384 and rs12036228 were 17.3%, 92.3% and 25.0%, 87.2% respectively in the AS group and the control group. And the T allele frequencies of rs6427384 and rs12036228 were 82.7%, 7.7% and 75.0%, 12.8% in the AS group and the control group. The percentages of CC, CT and TT genotype （rs6427384） were 3.7%, 27.2%, and 69.1% in the AS group, which were significantly different from those of the control group（3.9%, 42.2% and 53.9%） 0（2=8.7637, P=0.0125）. Staging of sacroiliitis in X ray were significantly different during AS patients whose genotype represented as CC, CT and TT （rs6427384） （x2=34.159, P=0.0001 ）. Incidences of the initial symptoms （low back pain or inflammation of periphery joint）in the AS group were obviously differed among patients with different genotypes （rs6427384） （X2=7.254, P= 0.027）, so did the mean duration of morning stiffness （F=4.159, P=0.018 ） and the average scores of BASDAI （F=4.461, P=0.014）. Incidences of the initial symptoms in the AS group were also conspicuously different between the AS patients with different genotypes （rs12036228） （x2=6.640, P=0.036）. Conclusion Our study suggests that the SNP （rs6427384 and rs12036228） of FCRL5 may be a susceptibility factor for AS in Anhui Han population and the genotype may influence the clinical phenotype of AS.