Department of Archaeogenetics, Max Planck Institute for the Science of Human History (MPI-SHH), Jena, Germany; Molecular Genetics Laboratory, Escuela Nacional de Antropología e Historia (ENAH), Mexico City, Mexico.
Molecular Genetics Laboratory, Escuela Nacional de Antropología e Historia (ENAH), Mexico City, Mexico; Immunogenetics Unit, Técnicas Genéticas Aplicadas a la Clínica (TGAC), Mexico City, Mexico.
Hum Immunol. 2020 Sep;81(9):461-474. doi: 10.1016/j.humimm.2020.06.008. Epub 2020 Jul 8.
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) allele groups and alleles by PCR-SSP based typing in a total of 15,318 mixed ancestry Mexicans from all the states of the country divided into 78 sample sets, providing information regarding allelic and haplotypic frequencies and their linkage disequilibrium, as well as admixture estimates and genetic substructure. We identified the presence of 4268 unique HLA extended haplotypes across Mexico and find that the ten most frequent (HF > 1%) HLA haplotypes with significant linkage disequilibrium (Δ'≥0.1) in Mexico (accounting for 20% of the haplotypic diversity of the country) are of primarily Native American ancestry (A02~B39DRB1*04DQB103:02, A02B*35DRB108~DQB104, A68~B39DRB1*04DQB103:02, A02B*35DRB104~DQB103:02, A24~B39DRB1*14DQB103:01, A24B*35DRB104~DQB103:02, A24~B39DRB1*04DQB103:02, A02B*40:02DRB104~DQB103:02, A68~B35DRB1*04DQB103:02, A02B*15:01DRB104~DQB103:02). Admixture estimates obtained by a maximum likelihood method using HLA-A/-B/-DRB1 as genetic estimators revealed that the main genetic components in Mexico as a whole are Native American (ranging from 37.8% in the northern part of the country to 81.5% in the southeastern region) and European (ranging from 11.5% in the southeast to 62.6% in northern Mexico). African admixture ranged from 0.0 to 12.7% not following any specific pattern. We were able to detect three major immunogenetic clusters correlating with genetic diversity and differential admixture within Mexico: North, Central and Southeast, which is in accordance with previous reports using genome-wide data. Our findings provide insights into the population immunogenetic substructure of the whole country and add to the knowledge of mixed ancestry Latin American population genetics, important for disease association studies, detection of demographic signatures on population variation and improved allocation of public health resources.
我们通过聚合酶链反应-序列特异性引物（PCR-SSP）方法对来自全国各州的 15318 名混合血统的墨西哥人进行了 HLA Ⅰ类（HLA-A、-B）和Ⅱ类（HLA-DRB1、-DQB1）等位基因组和等位基因的分型，提供了有关等位基因和单倍型频率及其连锁不平衡、混合估计和遗传亚结构的信息。我们在墨西哥鉴定了 4268 个独特的 HLA 扩展单倍型，发现墨西哥存在 10 个最常见（HF>1%）的 HLA 单倍型，它们具有显著的连锁不平衡（Δ'≥0.1）（占该国单倍型多样性的 20%），主要来源于美洲原住民（A02~B39DRB1*04DQB103:02、A02B*35DRB108~DQB104、A68~B39DRB1*04DQB103:02、A02B*35DRB104~DQB103:02、A24~B39DRB1*14DQB103:01、A24B*35DRB104~DQB103:02、A24~B39DRB1*04DQB103:02、A02B*40:02DRB104~DQB103:02、A68~B35DRB1*04DQB103:02、A02B*15:01DRB104~DQB103:02）。使用 HLA-A/-B/-DRB1 作为遗传估计值的最大似然法获得的混合估计值表明，墨西哥的主要遗传成分是美洲原住民（从该国北部的 37.8%到东南部的 81.5%）和欧洲（从东南部的 11.5%到墨西哥北部的 62.6%）。非洲混合比例从 0.0 到 12.7%，没有任何特定模式。我们能够检测到三个主要的免疫遗传群集，与墨西哥内部的遗传多样性和差异混合有关：北部、中部和东南部，这与之前使用全基因组数据的报告一致。我们的发现提供了对全国人口免疫遗传亚结构的深入了解，并增加了对混合血统拉丁美洲人群遗传学的了解，这对于疾病关联研究、人口变异的人口统计学特征检测以及公共卫生资源的合理分配都很重要。
