Laboratory of Molecular Medicine and Biotechnologies, Don C Gnocchi Foundation IRCCS, S Maria Nascente, Milan, Italy.
J Neuroimmunol. 2011 Jan;230(1-2):135-42. doi: 10.1016/j.jneuroim.2010.10.019. Epub 2010 Nov 17.
To verify correlations between HLA and autism spectrum disorders (ASD) we studied 61 Italian families with an ASD child; results showed such correlation in 65% of cases. Case-control and TDT analysis of intrafamilial transmission of SNPs, Msats, and HLA markers surrounding the α and β blocks, indicated significant positive associations for MOGc131 and D6S2239105 alleles in ASD, and a negative association of MIB 332 allele in healthy siblings. Polymorphism haplotype analysis demonstrated that two haplotypes comprising the TNF-238(G)-TNF-308(G)-MIB332-HLA-B38-HLA-Cw12 and the D6S265218-HLA-A23-MOGc*131-rs2857766(G) alleles are more frequently transmitted to ASD. MOGc and MIB loci are linked with ASD in Italian patients.
为了验证 HLA 与自闭症谱系障碍 (ASD) 之间的相关性，我们研究了 61 个有 ASD 儿童的意大利家庭；结果显示，65%的病例存在这种相关性。对 SNP、Msats 和围绕α和β块的 HLA 标记物的病例对照和 TDT 分析表明，MOGc131 和 D6S2239105 等位基因在 ASD 中存在显著的正相关，而 MIB332 等位基因在健康的兄弟姐妹中存在负相关。多态性单体型分析表明，由 TNF-238(G)-TNF-308(G)-MIB332-HLA-B38-HLA-Cw12 和 D6S265218-HLA-A23-MOGc*131-rs2857766(G)等位基因组成的两个单体型更频繁地传递给 ASD。意大利患者的 MOGc 和 MIB 基因座与 ASD 相关联。
