Szekeres Márta, Somogyvári Ferenc, Bencsik Krisztina, Szolnoki Zoltán, Vécsei László, Mándi Yvette
Ideggyogy Sz. 2015 Mar 30;68(3-4):127-33.
Recent studies have started to elucidate the contribution of microbiome to the pathogenesis of multiple sclerosis (MS). It is also supposed, that neuropathological alterations might be associated with abnormal expression and regulatory function of antimicrobial peptides (AMPs), including defensins. It is in our interest to investigate the relevance of the single nucleotide polymorphisms (SNPs) of the DEFB1 gene and the copy number polymorphism of the DEFB4 genes in MS.
DEFBI polymorphisms: c.-20G > A (rsl 1362), DEFB1 c.-44C > G (rsI 800972), DEFB1 c.-52G>A (rsl 799946), and the DEFB4 gene copy number were investigated in 250 MS patients The control patients comprised 232 age- and gender-matched healthy blood donors. The occurrence of the human β-defensin 2 peptide (hBD2) in the plasma of controls and patients-was determined by ELISA.
The DEFB1 c.-44C>G polymorphism the GG protective genotype was much less frequent among patients than among the controls. A higher frequency of a lower (<4) copy number of the DEFB4 gene was observed in the patients with MS as compared with the controls (43% vs. 28%, respectively). The median levels of the circulating hBD2 in the patients were 150.6 +/- 12.71 pg/ml vs. 262.1 +/- 23.82 pg/mI in the control group (p<0.0001). Our results suggest that β-defensins play role in the development of MS.
近期研究已开始阐明微生物群对多发性硬化症（MS）发病机制的作用。也有人认为，神经病理学改变可能与抗菌肽（AMPs）（包括防御素）的异常表达和调节功能有关。研究DEFB1基因的单核苷酸多态性（SNPs）和DEFB4基因的拷贝数多态性在MS中的相关性符合我们的研究兴趣。
在250例MS患者中研究了DEFB1多态性：c.-20G>A（rs11362）、DEFB1 c.-44C>G（rs1800972）、DEFB1 c.-52G>A（rs1799946）以及DEFB4基因拷贝数。对照患者包括232名年龄和性别匹配的健康献血者。通过ELISA法测定对照者和患者血浆中人β-防御素2肽（hBD2）的存在情况。
DEFB1 c.-44C>G多态性中，GG保护基因型在患者中的出现频率远低于对照者。与对照者相比，MS患者中观察到DEFB4基因低拷贝数（<4）的频率更高（分别为43%和28%）。患者循环hBD2的中位数水平为150.6±12.71 pg/ml，而对照组为262.1±23.82 pg/ml（p<0.0001）。我们的结果表明β-防御素在MS的发展中起作用。
