Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry
Struan FA Grant1,2,3, Michelle Petri4, Jonathan P Bradfield1, Cecilia E Kim1, Erin Santa1, Kiran Annaiah1, Edward C Frackelton1, Joseph T Glessner1, F George Otieno1, Julie L Shaner1, Ryan M Smith1, Andrew W Eckert1, Rosetta M Chiavacci1, Marcin Imielinski1, Kathleen E Sullivan5, Hakon Hakonarson1,2...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2008-12-01
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| Series: | The Application of Clinical Genetics |
| Online Access: | http://www.dovepress.com/association-of-the-embank1em-r61h-variant-with-systemic-lupus-erythema-a2684 |
| _version_ | 1828743403216568320 |
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| author | Struan FA Grant Michelle Petri Jonathan P Bradfield Cecilia E Kim Erin Santa et al |
| author_facet | Struan FA Grant Michelle Petri Jonathan P Bradfield Cecilia E Kim Erin Santa et al |
| author_sort | Struan FA Grant |
| collection | DOAJ |
| description | Struan FA Grant1,2,3, Michelle Petri4, Jonathan P Bradfield1, Cecilia E Kim1, Erin Santa1, Kiran Annaiah1, Edward C Frackelton1, Joseph T Glessner1, F George Otieno1, Julie L Shaner1, Ryan M Smith1, Andrew W Eckert1, Rosetta M Chiavacci1, Marcin Imielinski1, Kathleen E Sullivan5, Hakon Hakonarson1,2,31Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; 2Department of Pediatrics and Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; 3Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA; 4Division of Rheumatology, Johns Hopkins School of Medicine, Baltimore, MD, USA; 5Division of Allergy and Immunology, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USAAbstract: Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs10516487, within the B-cell gene BANK1 and systemic lupus erythematosus (SLE) as a consequence of a genome wide association study of this disease in European and Argentinean populations. In a bid for replication, we examined the effects of the R61H non-synonymous variant with respect to SLE in our genotyped American cohorts of European and African ancestry. Utilizing data from our ongoing genome-wide association study in our cohort of 178 Caucasian SLE cases and 1808 Caucasian population-based controls plus 148 African American (AA) SLE cases and 1894 AA population-based controls we investigated the association of the previously described non-synonymous SNP at the BANK1 locus with the disease in the two ethnicities separately. Using a Fisher’s exact test, the minor allele frequency (MAF) of rs10516487 in the Caucasian cases was 22.6% while it was 31.2% in Caucasian controls, yielding a protective odds ratio (OR) of 0.64 (95% CI 0.49–0.85; one-sided p = 7.07 × 10−4). Furthermore, the MAF of rs10516487 in the AA cases was 18.7% while it was 23.3% in AA controls, yielding a protective OR of 0.75 (95% CI 0.55–1.034; one-sided p = 0.039). The OR of the BANK1 variant in our study cohorts is highly comparable with that reported previously in a South American/European SLE case-control cohort (OR = 0.72). As such, R61H in the BANK1 gene confers a similar magnitude of SLE protection, not only in European Americans, but also in African Americans.Keywords: systemic lupus erythematosus, African Americans, European Americans, BANK1 gene |
| first_indexed | 2024-04-13T01:36:29Z |
| format | Article |
| id | doaj.art-81303ed3e9c8406e8c4faf4324f7a1be |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-04-13T01:36:29Z |
| publishDate | 2008-12-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-81303ed3e9c8406e8c4faf4324f7a1be2022-12-22T03:08:20ZengDove Medical PressThe Application of Clinical Genetics1178-704X2008-12-012009default15Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestryStruan FA GrantMichelle PetriJonathan P BradfieldCecilia E KimErin Santaet alStruan FA Grant1,2,3, Michelle Petri4, Jonathan P Bradfield1, Cecilia E Kim1, Erin Santa1, Kiran Annaiah1, Edward C Frackelton1, Joseph T Glessner1, F George Otieno1, Julie L Shaner1, Ryan M Smith1, Andrew W Eckert1, Rosetta M Chiavacci1, Marcin Imielinski1, Kathleen E Sullivan5, Hakon Hakonarson1,2,31Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; 2Department of Pediatrics and Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; 3Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA; 4Division of Rheumatology, Johns Hopkins School of Medicine, Baltimore, MD, USA; 5Division of Allergy and Immunology, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USAAbstract: Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs10516487, within the B-cell gene BANK1 and systemic lupus erythematosus (SLE) as a consequence of a genome wide association study of this disease in European and Argentinean populations. In a bid for replication, we examined the effects of the R61H non-synonymous variant with respect to SLE in our genotyped American cohorts of European and African ancestry. Utilizing data from our ongoing genome-wide association study in our cohort of 178 Caucasian SLE cases and 1808 Caucasian population-based controls plus 148 African American (AA) SLE cases and 1894 AA population-based controls we investigated the association of the previously described non-synonymous SNP at the BANK1 locus with the disease in the two ethnicities separately. Using a Fisher’s exact test, the minor allele frequency (MAF) of rs10516487 in the Caucasian cases was 22.6% while it was 31.2% in Caucasian controls, yielding a protective odds ratio (OR) of 0.64 (95% CI 0.49–0.85; one-sided p = 7.07 × 10−4). Furthermore, the MAF of rs10516487 in the AA cases was 18.7% while it was 23.3% in AA controls, yielding a protective OR of 0.75 (95% CI 0.55–1.034; one-sided p = 0.039). The OR of the BANK1 variant in our study cohorts is highly comparable with that reported previously in a South American/European SLE case-control cohort (OR = 0.72). As such, R61H in the BANK1 gene confers a similar magnitude of SLE protection, not only in European Americans, but also in African Americans.Keywords: systemic lupus erythematosus, African Americans, European Americans, BANK1 genehttp://www.dovepress.com/association-of-the-embank1em-r61h-variant-with-systemic-lupus-erythema-a2684 |
| spellingShingle | Struan FA Grant Michelle Petri Jonathan P Bradfield Cecilia E Kim Erin Santa et al Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry The Application of Clinical Genetics |
| title | Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry |
| title_full | Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry |
| title_fullStr | Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry |
| title_full_unstemmed | Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry |
| title_short | Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry |
| title_sort | association of the bank1 r61h variant with systemic lupus erythematosus in americans of european and african ancestry |
| url | http://www.dovepress.com/association-of-the-embank1em-r61h-variant-with-systemic-lupus-erythema-a2684 |
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