Association of IKBKB and POLB gene polymorphisms with systemic lupus erythematosus in Chinese Han population

Objective To investigate the association of single nucleotide polymorphisms(SNPs)of IKBKB(rs12676482, rs2272733)and POLB(rs3136717, rs3136744)with systemic lupus erythematosus(SLE)in Chinese Han population. Methods SNPs from a cohort of 908 SLE patients and 961 healthy controls were genotyped using polymerase chain reaction-ligase detection reaction(PCR-LDR). The associations of the SNPs with the clinical manifestations and various serological markers of SLE were analyzed. χ2-test was applied to compare allele and genotype frequencies between cases and controls using the PLINK 1.07 software. Three Logistic regression models(additive, dominant, and recessive)were used to analyze the SNPs. Results In the healthy control group, rs12676482 AA, AG, GG genotype frequency and A, G allele frequencies were as follows: 0.9%(8/938), 15.7%(147/938), 83.4%(783/938), 8.7%(163/1 876), 91.3%(1 713/ 1 876), those of the corresponding case group were as follows: 1.4%(12/888), 15.6%(139/888), 83.0%(737/ 888), 9.2%(163/1 776), 90.2%(1 613/1 776), genotype and allele frequencies were not statistical significantly different between SLE patients and healthy controls(P>0.05). In healthy control group, rs2272733 TT, TC, CC genotype frequency and T, C allele frequencies were as follows: 1.1%(10/938), 16.7%(157/938), 82.2%(771/ 938), 9.4%(177/1 876), 90.6%(1 699/1 876), those of the SLE patients group was as follows: 1.4%(12/888), 16.3%(145/888), 82.3%(731/888), 9.5%(169/1 776), 90.5%(1 607/1 776), genotype and allele frequencies were not statistical significantly different between SLE patients and healthy controls(P>0.05). In the healthy control group, rs3136717 CC, CT, TT genotype frequency and C, T allele frequencies were as follows: 1.1%(10/938), 16.7%(157/938), 82.2%(771/938), 9.4%(177/1 876), 90.6%(1 699/1 876), those of the patient group were as follows: 1.4%(12/888), 16.7%(148/888), 82.0%(728/888), 9.7%(172/1 776), 90.3%(1 604/1 776), genotype and allele frequencies were not statistically significantly different between SLE patients and healthy controls(P>0.05). In the healthy control group, rs3136744 CC, CA, AA genotype frequency and C, A allele frequencies were as follows: 0.6%(6/938), 13.6%(128/938), 85.7%(804/938), 7.4%(140/1 876), 92.6%(1 736/1 876), those of the patients group were as follows: 1.0%(9/888), 14.4%(128/888), 84.6%(751/888), 8.2%(146/1 776), 91.8%(1 630/1 776), genotype and allele frequencies were not statistically significantly difference between SLE patients and healthy controls(P>0.05). The genotype frequencies were not different between the three genetic models. There was no evidence of association between the two SNPs and any clinical features of SLE(P>0.05). Conclusion rs12676482, rs2272733(IKBKB)and rs3136717, rs3136744(POLB)are not susceptible genes for SLE in Chinese Han population. Key words: Lupus erythematosus, systemic; Polymorphism, single nucleotide; IKBKB; POLB