High‐resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population

Abstract

We describe for the first time the high-resolution profiling of HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 in a culturally and geographically distinct Mexican ethnic group, the Tarahumaras. The alleles most frequently found by reference strand-mediated conformational analysis in this population were for class I: HLA-A*240201, *020101/09, *0206, *310102, *680102; HLA-B*4002, *1501, *510201, *3501/02/03, *4005, *4801; HLA-Cw*0304, *0801, *0102, *040101; and for class II: HLA-DRB1*080201, *1402, *040701; HLA-DQB1*0402, *0301, *0302/07; HLA-DPB1*0402, *0401, *020102. In addition, a novel allele, HLA-A*0257, was found. Based on comparison of presently known HLA-DRB1 and -DQB1 allele frequencies in Amerindian groups and worldwide populations, the Tarahumaras are unexpectedly more related to the geographically and linguistically distant Aymara and Terena Amerindian groups than they are to neighbouring tribes.

HLA Class I and Class II Conserved Extended Haplotypes and Their Fragments or Blocks in Mexicans: Implications for the Study of Genetic Diversity in Admixed Populations

“…These findings may indicate that those haplotypes could be frequent in an ancestral group from which both Amerindians and South-East Asians originated from. Amerindian HLA - C /− B blocks observed in the present study, have been also reported, with high frequencies, among Amerindian groups including Zapotecs, Mixe, and Mixtec from Oaxaca State in the southeast of Mexico [16]; Tarahumara from Chihuahua State in the north of Mexico [17]; Native Americans from US [18]; and Yucpa from Venezuela [19]. Genetic admixture estimations were similar to those previously reported data from Mexico City [9].…”

“…Caucasian component was estimated with a pooled sample (N = 315) consisting of data from southern Portugal [34] and an European population sample from USA [18]; African Nandi from Kenia [59] served as the African parental component (N = 239); a pooled Native American sample (N = 146) was used, which consisted of data from Mixtec of Oaxaca, SE Mexico [16] and Tarahumara from Chihuahua, north of Mexico [17]; finally, Han from southern China data (N = 281) were used to estimate the Asian contribution [60]. Principal Components Analysis (PCA) for 38 populations with HLA-B data available was performed using the IBM SPSS Statistics 19 software ( IBM Corporation, Armonk, NY, USA ) to analyse the distribution of HLA-B alleles in human groups of the proposed ancestries, Figure 1 .…”

“…Principal Components Analysis (PCA) for 38 populations with HLA-B data available was performed using the IBM SPSS Statistics 19 software ( IBM Corporation, Armonk, NY, USA ) to analyse the distribution of HLA-B alleles in human groups of the proposed ancestries, Figure 1 . PCA included population data of Ireland [20], NW of England [61], Germany [62], Austria [63]; Spain, Italy, United Kingdom [64], France [65], Gypsy from Andalucía (Spain; data collected by López-Nevot et al ) [14], Azores Terceira Island [66], Forro from São Tomé Island [67], Beti from Cameroon [68], Bandiagara from Mali, Lusaka from Zambia, Luo and Nandi from Kenia [69], Mandeka from Senegal [70], Guinea Bissau [71], Aleut from Bering Island (Russia) [72], center of Japan [73], a cord blood bank of Tzu Chi Foundation (Taiwan) [74], Han from southern China [60], north India [75], Kensiu from Malasya [76], Kinh from Vietnam [77], Tarahumara from northern Mexico [17], Native Americans from Gila River (USA) [78], Yu’pik from Alaska (USA) [79], Mixtec, Zapotec, and Mixe from Oaxaca (Mexico) [16], Seri from Sonora (Mexico) [80], Navajo from New Mexico (USA) [81], Uro from Titikaka Lake (Peru) [82], and Toba from Rosario (Argentina; data collected by Cintia Marcos et al ) [14]. Also, two admixed populations from Mexico were included: a “Mexican Mestizo” sample [83] and a sample from Guadalajara City, western Mexico [23].…”

A deep look at KIR–HLA in Amerindians: Comprehensive meta-analysis reveals limited diversity of KIR haplotypes

“…When the HLA 36 genes started to be analyzed in many of these groups, KIR genes were still not well characterized. There- 37 fore, they have never been analyzed in a joint context. We thoroughly examined the HLA haplotypes of 38 these populations; for the first time, we are showing the frequencies of the known HLA ligands of most 39 of these populations, which had been separately studied for both KIR and HLA.…”

Different Evolution of Inhibitory and Activating Killer Immunoglobulin Receptors (KIR) in Worldwide Human Populations

“…We chose the isolated Tarahumara Amerindians from North Mexico [18] a s the basal comparison ethnic group, a group whi ch is sharply defined by bot h genetically and a nthropologically c riteria. Al so, this T arahumara group has been shown to have a comparatively low number of KIR genotypes [19].…”