A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis
Abstract The genetic component of Immunoglobulin-A (IgA) vasculitis is still far to be elucidated. To increase the current knowledge on the genetic component of this vasculitis we performed the first genome-wide association study (GWAS) on this condition. 308 IgA vasculitis patients and 1,018 health...
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Nature Portfolio
2017
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oai:doaj.org-article:3e33d0a736e14f4593fe38919470b3d32021-12-02T16:08:13ZA genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis10.1038/s41598-017-03915-22045-2322https://doaj.org/article/3e33d0a736e14f4593fe38919470b3d32017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-03915-2https://doaj.org/toc/2045-2322Abstract The genetic component of Immunoglobulin-A (IgA) vasculitis is still far to be elucidated. To increase the current knowledge on the genetic component of this vasculitis we performed the first genome-wide association study (GWAS) on this condition. 308 IgA vasculitis patients and 1,018 healthy controls from Spain were genotyped by Illumina HumanCore BeadChips. Imputation of GWAS data was performed using the 1000 Genomes Project Phase III dataset as reference panel. After quality control filters and GWAS imputation, 285 patients and 1,006 controls remained in the datasets and were included in further analysis. Additionally, the human leukocyte antigen (HLA) region was comprehensively studied by imputing classical alleles and polymorphic amino acid positions. A linkage disequilibrium block of polymorphisms located in the HLA class II region surpassed the genome-wide level of significance (OR = 0.56, 95% CI = 0.46–0.68). Although no polymorphic amino acid positions were associated at the genome-wide level of significance, P-values of potential relevance were observed for the positions 13 and 11 of HLA-DRB1 (P = 6.67E-05, P = 1.88E-05, respectively). Outside the HLA, potential associations were detected, but none of them were close to the statistical significance. In conclusion, our study suggests that IgA vasculitis is an archetypal HLA class II disease.Raquel López-MejíasF. David CarmonaSantos CastañedaFernanda GenreSara Remuzgo-MartínezBelén Sevilla-PerezNorberto Ortego-CentenoJavier LlorcaBegoña UbillaVerónica MijaresTrinitario PinaJosé A. Miranda-FilloyAntonio Navas ParejoDiego de ArgilaMaximiliano AragüesEsteban RubioManuel León LuqueJuan María Blanco-MadrigalEva Galíndez-AguirregoikoaDavid JayneRicardo BlancoJavier MartínMiguel A. González-GayNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-6 (2017) |
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Medicine R Science Q Raquel López-Mejías F. David Carmona Santos Castañeda Fernanda Genre Sara Remuzgo-Martínez Belén Sevilla-Perez Norberto Ortego-Centeno Javier Llorca Begoña Ubilla Verónica Mijares Trinitario Pina José A. Miranda-Filloy Antonio Navas Parejo Diego de Argila Maximiliano Aragües Esteban Rubio Manuel León Luque Juan María Blanco-Madrigal Eva Galíndez-Aguirregoikoa David Jayne Ricardo Blanco Javier Martín Miguel A. González-Gay A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis |
| description |
Abstract The genetic component of Immunoglobulin-A (IgA) vasculitis is still far to be elucidated. To increase the current knowledge on the genetic component of this vasculitis we performed the first genome-wide association study (GWAS) on this condition. 308 IgA vasculitis patients and 1,018 healthy controls from Spain were genotyped by Illumina HumanCore BeadChips. Imputation of GWAS data was performed using the 1000 Genomes Project Phase III dataset as reference panel. After quality control filters and GWAS imputation, 285 patients and 1,006 controls remained in the datasets and were included in further analysis. Additionally, the human leukocyte antigen (HLA) region was comprehensively studied by imputing classical alleles and polymorphic amino acid positions. A linkage disequilibrium block of polymorphisms located in the HLA class II region surpassed the genome-wide level of significance (OR = 0.56, 95% CI = 0.46–0.68). Although no polymorphic amino acid positions were associated at the genome-wide level of significance, P-values of potential relevance were observed for the positions 13 and 11 of HLA-DRB1 (P = 6.67E-05, P = 1.88E-05, respectively). Outside the HLA, potential associations were detected, but none of them were close to the statistical significance. In conclusion, our study suggests that IgA vasculitis is an archetypal HLA class II disease. |
| format |
article |
| author |
Raquel López-Mejías F. David Carmona Santos Castañeda Fernanda Genre Sara Remuzgo-Martínez Belén Sevilla-Perez Norberto Ortego-Centeno Javier Llorca Begoña Ubilla Verónica Mijares Trinitario Pina José A. Miranda-Filloy Antonio Navas Parejo Diego de Argila Maximiliano Aragües Esteban Rubio Manuel León Luque Juan María Blanco-Madrigal Eva Galíndez-Aguirregoikoa David Jayne Ricardo Blanco Javier Martín Miguel A. González-Gay |
| author_facet |
Raquel López-Mejías F. David Carmona Santos Castañeda Fernanda Genre Sara Remuzgo-Martínez Belén Sevilla-Perez Norberto Ortego-Centeno Javier Llorca Begoña Ubilla Verónica Mijares Trinitario Pina José A. Miranda-Filloy Antonio Navas Parejo Diego de Argila Maximiliano Aragües Esteban Rubio Manuel León Luque Juan María Blanco-Madrigal Eva Galíndez-Aguirregoikoa David Jayne Ricardo Blanco Javier Martín Miguel A. González-Gay |
| author_sort |
Raquel López-Mejías |
| title |
A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis |
| title_short |
A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis |
| title_full |
A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis |
| title_fullStr |
A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis |
| title_full_unstemmed |
A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis |
| title_sort |
genome-wide association study suggests the hla class ii region as the major susceptibility locus for iga vasculitis |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/3e33d0a736e14f4593fe38919470b3d3 |
| work_keys_str_mv |
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