Departamento de Disciplinas Filosóficas, Metodológicas e Instrumentales, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Sierra Mojada 950, 44340, Guadalajara, Jalisco, Mexico.
Laboratorio de Inmunodeficiencias y Retrovirus Humanos, División de Neurociencias, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico.
Immunogenetics. 2018 Aug;70(8):547-551. doi: 10.1007/s00251-018-1052-8. Epub 2018 Feb 3.
The HLA-DRB115:01 allele has a demonstrated risk for the development of multiple sclerosis (MS) in most populations around the world. The single nucleotide polymorphism (SNP) rs3129934 is found in linkage disequilibrium with the risk haplotype formed by the HLA-DRB115:01 and HLA-DQB106:02 alleles, and it is considered a reliable marker of the presence of this haplotype. Native Americans have a null or low prevalence of MS. In this study, we sought to identify the frequency of rs3129934 in the Wixárika ethnic group as well as in Mestizo (mixed race) patients with MS and in controls from western Mexico. Through real-time polymerase chain reaction (PCR) using TaqMan probes, we analyzed the allele and genotype frequencies of rs3129934 in Mestizo individuals with and without MS and in 73 Wixárika subjects from the state of Jalisco, Mexico. The Wixárika subjects were homozygote for the C allele of rs3129934. The allele and genotype frequency in Mestizos with MS was similar to that of other MS populations with Caucasian ancestry. The absence of the T risk allele rs3129934 (associated with the haplotype HLA-DRB115:01, HLA-DQ1*06:02) in this sample of Wixárika subjects is consistent with the unreported MS in this Amerindian group, related to absence of such paramount genetic risk factor.
HLA-DRB115:01 等位基因在世界上大多数人群中都被证实与多发性硬化症 (MS) 的发生有关。单核苷酸多态性 (SNP) rs3129934 与由 HLA-DRB115:01 和 HLA-DQB106:02 等位基因形成的风险单倍型连锁不平衡，被认为是该单倍型存在的可靠标志物。美洲原住民的 MS 患病率较低或为零。在这项研究中，我们试图确定 Wixárika 族群以及来自墨西哥西部的 MS 混合人种患者和对照组中 rs3129934 的频率。通过使用 TaqMan 探针的实时聚合酶链反应 (PCR)，我们分析了 Mestizo 个体中 rs3129934 的等位基因和基因型频率，包括有和没有 MS 的个体，以及来自墨西哥哈利斯科州的 73 名 Wixárika 个体。Wixárika 个体是 rs3129934 的 C 等位基因纯合子。Mestizo 中 MS 的等位基因和基因型频率与其他具有白种人祖先的 MS 人群相似。在这个 Wixárika 样本中，T 风险等位基因 rs3129934（与 HLA-DRB115:01、HLA-DQ1*06:02 单倍型相关）的缺失，与该印第安人群体中未报告的 MS 一致，这与缺乏这种首要遗传风险因素有关。
