The association of vitamin D receptor gene Apa Ⅰ and Bsm Ⅰ polymorphism with systemic lupus erythematosus / 中华内科杂志

ABSTRACT

ObjectiveTo determine the distribution of vitamin D receptor (VDR) gene Apa Ⅰ and Bsm Ⅰ polymorphism in systemic lupus erythematosus (SLE) and the association with SLE in Chinese Han patients.MethodsGenomic DNA from 244 Chinese SLE patients and 162 sex and ethnically matched controls were typed for VDR Apa Ⅰand Bsm Ⅰpolymorphism combination by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Clinical characteristics were analyzed between different Apa ] and Bsm Ⅰ genotypes.ResultsThere was no significant difference between the distribution frequencies of allelic gene A and a in SLE patients and the controls,but the distribution frequency of genotypes heterozygote Aa in SLE patients was higher than that in the controls ( 38.9％ vs 22.2％,x2 =12.442,P =0.000).There was no significant difference between the distribution frequency of allelic gene and genotypes of Bsm Ⅰin SLE patients and the controls ( P ＞ 0.05 ).However,there was significant difference between the distribution frequencies of Apa Ⅰ and Bsm Ⅰ genotypes combination in SLE patients and the controls (x2 =18.226,P =0.006).The distribution frequency of genotypes Aa-bb in SLE patients was higher than that in the controls ( 32.4％ vs 17.9％,x2 =10.449 P =0.001 ),while the distribution frequency of genotypes Aa-bb in SLE patients was lower than that in the controls (30.3％ vs 42.0％,x2 =5.808,P =0.016). Furthermore,analyzing the effect of VDR Apa Ⅰand Bsm Ⅰ polymorphism combination to the symptoms of SLE,significant difference was observed in SLE patients carrying Aa-bb genotypes involved in serositis ( P =0.003 ),hematological system disorder ( P =0.021 ),and anti-Sm antibodies ( P =0.01 ) compared with other genotypes.ConclusionThere is significant association between Apa Ⅰ and Bsm Ⅰ gene polymorphism Aa-bb genotypes and the incidence of SLE in the Han population of China,and genotype Aa-bb is more involved in serositis,hematological system disorder and has a positive effect on production of antibodies.