The aim of this project was to evaluate the relationship of matrix metalloproteinase-9 (MMP-9) genetic variation and its serum concentration with autism spectrum disorder (ASD). One hundred ASD and 120 controls were enrolled in this study. Genomic DNA was extracted from blood and MMP-9 polymorphism was determined by polymerase chain reaction restriction fragment length polymorphism and serum levels were measured by enzyme-linked immunosorbent assay. The frequencies of CC, CT, and TT genotypes were 72%, 26%, and 2% in controls and 31%, 57%, and 12% in ASD, respectively. The frequencies of C and T alleles in ASD were 59.5% and 40.5%, and controls were 86% and 14%, respectively. There is a significant increase in serum MMP-9 levels in ASD as compared to controls. We have also shown that TT genotype is significantly associated with increase serum MMP-9 levels in patients (TT, CT, and CC serum levels were 91.77 ± 10.53, 70.66 ± 7.21, and 38.66 ± 5.52 and in controls were 55.55 ± 11.39, 42.66 ± 7.85, and 30.55 ± 6.34 ng/ml, respectively). It is concluded that there is a significant association between rs3918242 MMP-9 polymorphism and its serum concentration with autism. We also suggest that TT genotype is associated with increased MMP9 expression and may be a risk factor for ASD.

本项目的目的是评估基质金属蛋白酶 9 ( MMP-9 ) 遗传变异及其血清浓度与自闭症谱系障碍 (ASD) 的关系。一百名 ASD 和 120 名对照参加了这项研究。从血液中提取基因组DNA，通过聚合酶链反应限制性片段长度多态性测定MMP-9多态性，并通过酶联免疫吸附法测定血清水平。CC、CT 和 TT 基因型的频率在对照组中分别为 72%、26% 和 2%，在 ASD 中分别为 31%、57% 和 12%。ASD 中 C 和 T 等位基因的频率分别为 59.5% 和 40.5%，对照组分别为 86% 和 14%。血清MMP-9显着升高与对照组相比，ASD 的水平。我们还表明，TT 基因型与患者血清MMP-9水平升高显着相关（TT、CT 和 CC 血清水平分别为 91.77 ± 10.53、70.66 ± 7.21 和 38.66 ± 5.52，对照组为 55.55 ± 11.39、42.66 ± 7.85 和 30.55 ± 6.34 ng/ml）。结论是rs3918242 MMP-9多态性与其血清浓度与孤独症之间存在显着关联。我们还建议 TT 基因型与增加的 MMP9 表达相关，并且可能是 ASD 的危险因素。