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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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Item Permalink: http://hdl.handle.net/21.11116/0000-0006-E0E7-8 Version Permalink: http://hdl.handle.net/21.11116/0000-0006-E0E8-7
Genre: Journal Article

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 Creators:
Romero-Hidalgo, Sandra, Author
Flores-Rivera, José, Author
Rivas-Alonso, Verónica, Author
Barquera, Rodrigo1, Author              
Villarreal-Molina, María Teresa, Author
Antuna-Puente, Bárbara, Author
Macias-Kauffer, Luis Rodrigo, Author
Villalobos-Comparán, Marisela, Author
Ortiz-Maldonado, Jair, Author
Yu, Neng, Author
Lebedeva, Tatiana V., Author
Alosco, Sharon M., Author
García-Rodríguez, Juan Daniel, Author
González-Torres, Carolina, Author
Rosas-Madrigal, Sandra, Author
Ordoñez, Graciela, Author
Guerrero-Camacho, Jorge Luis, Author
Treviño-Frenk, Irene, Author
Escamilla-Tilch, Monica, Author
García-Lechuga, Maricela, Author
Tovar-Méndez, Víctor Hugo, AuthorPacheco-Ubaldo, Hanna, AuthorAcuña-Alonzo, Victor, AuthorBortolini, Maria-Cátira, AuthorGallo, Carla, AuthorBedoya, Gabriel, AuthorRothhammer, Francisco, AuthorGonzález-Jose, Rolando, AuthorRuiz-Linares, Andrés, AuthorCanizales-Quinteros, Samuel, AuthorYunis, Edmond, AuthorGranados, Julio, AuthorCorona, Teresa, Author more..
Affiliations:
1Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society, ou_2074310              

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 Abstract: 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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Language(s): eng - English
 Dates: 2020-08-13
 Publication Status: Published online
 Pages: 11
 Publishing info: -
 Table of Contents: 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.
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/s41598-020-69224-3
Other: shh2690
 Degree: -

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Title: Scientific Reports
  Abbreviation : Sci. Rep.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: London, UK : Nature Publishing Group
Pages: - Volume / Issue: 10 (1) Sequence Number: 13706 Start / End Page: 1 - 11 Identifier: ISSN: 2045-2322
CoNE: https://pure.mpg.de/cone/journals/resource/2045-2322