Association of methyl-CpG-binding protein 2 (MeCP2) polymorphisms withsystemic lupus erythematosus (SLE) among Chinese Han population in south of the Yangtze River

作者：Ren J P; Peng C L; Chen S L; Fu C W; Jiang F; Li Y H; Meng W^*

来源：Fudan University Journal of Medical Sciences, 2012, 39(2): 146-151.

DOI：10.3969/j.issn.1672-8467.2012.02.007

• Methyl-CpG-binding protein 2(MeCP2)
• Single nucleotide polymorphism(SNP)
• Systemic lupus erythematosus(SLE)

Objective: To explore the association of methyl-CpG-binding protein 2 (MeCP2) polymorphisms with systemic lupus erythematosus (SLE) among Chinese Han population in south of the Yangtze River. Methods: There were 141 cases and 144 controls recruited to determine the genotypes of rs2239464 and rs2075596through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The involvement of the polymorphisms in SLE were analyzed under different genetic modes in which the optimum mode was screened by the lowest value of Akaike';s information criteria(AIC). Results: In rs2239464 and rs2075596, distributions of the genotypes or alleles between cases and controls were significantly different under dominant, recessive, additive and multiplicative mode, respectively(P<0.05). Under dominant mode, the GG/AG genotypes in the both sites were the protective genotypes for SLE(OR rs2239464=0.528, 95CI rs2239464: 0.315-0.885; OR rs2075596=0.435, 95CI rs2075596: 0.264-0.717). Under recessive mode, the GG genotypes of rs2239464 and rs2075596 showed significant protective effect on SLE(OR rs2239464=0.108, 95CI rs2239464: 0.013-0.863; OR rs2075596=0.097, 95CI rs2075596: 0.012-0.771). Under additive mode, there was significant protective role in the GG genotype of rs2239464(OR=0.094, 95CI: 0.012-0.758), relative to AA, and it was also found that significantly protective genotypes of AG and GG existed in rs2075596(OR AG=0.498, 95CI AG: 0.298-0.832; OR GG =0.077, 95CI GG: 0.010-0.612). Under multiplicative mode, the G alleles of the both sites were significantly the protective allele for SLE, separately (OR rs2239464= 0.503, 95CI rs2239464: 0.319-0.793; OR rs2075596=0.445, 95CI rs2075596: 0.289-0.686). According to the lowest value of AIC, the additive mode was found optimal in rs2239464 and rs2075596. Conclusions: The rs2239464 and rs2075596 polymorphisms in MECP2 are responsible for SLE, and the mutant G alleles of the rs2239464 and rs2075596 may be the protective alleles for SLE.

• 出版日期2012
• 单位复旦大学