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  Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population

Romero-Hidalgo, S., Flores-Rivera, J., Rivas-Alonso, V., Barquera, R., Villarreal-Molina, M. T., Antuna-Puente, B., et al. (2020). Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population. Scientific Reports, 10(1): 13706, pp. 1-11. doi:10.1038/s41598-020-69224-3.

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Romero-Hidalgo, Sandra, Autor
Flores-Rivera, José, Autor
Rivas-Alonso, Verónica, Autor
Barquera, Rodrigo1, Autor           
Villarreal-Molina, María Teresa, Autor
Antuna-Puente, Bárbara, Autor
Macias-Kauffer, Luis Rodrigo, Autor
Villalobos-Comparán, Marisela, Autor
Ortiz-Maldonado, Jair, Autor
Yu, Neng, Autor
Lebedeva, Tatiana V., Autor
Alosco, Sharon M., Autor
García-Rodríguez, Juan Daniel, Autor
González-Torres, Carolina, Autor
Rosas-Madrigal, Sandra, Autor
Ordoñez, Graciela, Autor
Guerrero-Camacho, Jorge Luis, Autor
Treviño-Frenk, Irene, Autor
Escamilla-Tilch, Monica, Autor
García-Lechuga, Maricela, Autor
Tovar-Méndez, Víctor Hugo, AutorPacheco-Ubaldo, Hanna, AutorAcuña-Alonzo, Victor, AutorBortolini, Maria-Cátira, AutorGallo, Carla, AutorBedoya, Gabriel, AutorRothhammer, Francisco, AutorGonzález-Jose, Rolando, AutorRuiz-Linares, Andrés, AutorCanizales-Quinteros, Samuel, AutorYunis, Edmond, AutorGranados, Julio, AutorCorona, Teresa, Autor mehr..
Affiliations:
1Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society, ou_2074310              

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 Zusammenfassung: Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10–6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10–10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.

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Sprache(n): eng - English
 Datum: 2020-08-13
 Publikationsstatus: Online veröffentlicht
 Seiten: 11
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: Results
- Population admixture analysis.
- Genome‑wide association analysis.
- HLA analysis.
- AQP4 sequencing.

Discussion

Methods
- Study population.
- Genotyping.
- High‑resolution typing of the HLA region.
- AQP4 sequencing.
- Statistical analysis
-- Genome‑wide screening.
-- HLA region analysis.
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: 10.1038/s41598-020-69224-3
Anderer: shh2690
 Art des Abschluß: -

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Titel: Scientific Reports
  Kurztitel : Sci. Rep.
Genre der Quelle: Zeitschrift
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Affiliations:
Ort, Verlag, Ausgabe: London, UK : Nature Publishing Group
Seiten: - Band / Heft: 10 (1) Artikelnummer: 13706 Start- / Endseite: 1 - 11 Identifikator: ISSN: 2045-2322
CoNE: https://pure.mpg.de/cone/journals/resource/2045-2322