ANKRD55 and DHCR7 are novel multiple sclerosis risk loci
(2012) In Genes and Immunity 13(3). p.7-253- Abstract
Multiple sclerosis (MS) shares some risk genes with other disorders hallmarked by an autoimmune pathogenesis, most notably IL2RA and CLEC16A. We analyzed 10 single-nucleotide polymorphisms (SNPs) in nine risk genes, which recently emerged from a series of non-MS genome-wide association studies (GWAS), in a Spanish cohort comprising 2895 MS patients and 2942 controls. We identified two SNPs associated with MS. The first SNP, rs6859219, located in ANKRD55 (Chr5), was recently discovered in a meta-analysis of GWAS on rheumatoid arthritis (RA), and emerged from this study with genome-wide significance (odds ratio (OR) = 1.35; P = 2.3 × 10(-9)). The second SNP, rs12785878, is located near DHCR7 (Chr11), a genetic determinant of vitamin D... (More)
Multiple sclerosis (MS) shares some risk genes with other disorders hallmarked by an autoimmune pathogenesis, most notably IL2RA and CLEC16A. We analyzed 10 single-nucleotide polymorphisms (SNPs) in nine risk genes, which recently emerged from a series of non-MS genome-wide association studies (GWAS), in a Spanish cohort comprising 2895 MS patients and 2942 controls. We identified two SNPs associated with MS. The first SNP, rs6859219, located in ANKRD55 (Chr5), was recently discovered in a meta-analysis of GWAS on rheumatoid arthritis (RA), and emerged from this study with genome-wide significance (odds ratio (OR) = 1.35; P = 2.3 × 10(-9)). The second SNP, rs12785878, is located near DHCR7 (Chr11), a genetic determinant of vitamin D insufficiency, and showed a size effect in MS similar to that recently observed in Type 1 diabetes (T1D; OR = 1.10; P = 0.009). ANKRD55 is a gene of unknown function, and is flanked proximally by the IL6ST-IL31RA gene cluster. However, rs6859219 did not show correlation with a series of haplotype-tagging SNPs covering IL6ST-IL31RA, analyzed in a subset of our dataset (D'< 0.31; r(2)< 0.011). Our results expand the number of risk genes shared between MS, RA and T1D.
(Less)
- author
- publishing date
- 2012-04
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Adult, Alleles, Ankyrin Repeat/genetics, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Multiple Sclerosis/genetics, Oxidoreductases Acting on CH-CH Group Donors/genetics, Polymorphism, Single Nucleotide, Young Adult
- in
- Genes and Immunity
- volume
- 13
- issue
- 3
- pages
- 5 pages
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:22130326
- scopus:84859926176
- ISSN
- 1476-5470
- DOI
- 10.1038/gene.2011.81
- language
- English
- LU publication?
- no
- additional info
- I Alloza, D Otaegui, F Matesanz and K Vandenbroeck: These authors contributed equally to this work.
- id
- 1b964e28-d5e6-45bf-b0e1-f6f3b1110be9
- date added to LUP
- 2021-01-17 19:00:29
- date last changed
- 2024-07-25 11:59:00
@article{1b964e28-d5e6-45bf-b0e1-f6f3b1110be9, abstract = {{<p>Multiple sclerosis (MS) shares some risk genes with other disorders hallmarked by an autoimmune pathogenesis, most notably IL2RA and CLEC16A. We analyzed 10 single-nucleotide polymorphisms (SNPs) in nine risk genes, which recently emerged from a series of non-MS genome-wide association studies (GWAS), in a Spanish cohort comprising 2895 MS patients and 2942 controls. We identified two SNPs associated with MS. The first SNP, rs6859219, located in ANKRD55 (Chr5), was recently discovered in a meta-analysis of GWAS on rheumatoid arthritis (RA), and emerged from this study with genome-wide significance (odds ratio (OR) = 1.35; P = 2.3 × 10(-9)). The second SNP, rs12785878, is located near DHCR7 (Chr11), a genetic determinant of vitamin D insufficiency, and showed a size effect in MS similar to that recently observed in Type 1 diabetes (T1D; OR = 1.10; P = 0.009). ANKRD55 is a gene of unknown function, and is flanked proximally by the IL6ST-IL31RA gene cluster. However, rs6859219 did not show correlation with a series of haplotype-tagging SNPs covering IL6ST-IL31RA, analyzed in a subset of our dataset (D'< 0.31; r(2)< 0.011). Our results expand the number of risk genes shared between MS, RA and T1D.</p>}}, author = {{Alloza, I and Otaegui, D and de Lapuente, A Lopez and Antigüedad, A and Varadé, J and Núñez, C and Arroyo, R and Urcelay, E and Fernandez, O and Leyva, L and Fedetz, M and Izquierdo, G and Lucas, M and Oliver-Martos, B and Alcina, A and Saiz, A and Blanco, Y and Comabella, M and Montalban, X and Olascoaga, J and Matesanz, F and Vandenbroeck, K}}, issn = {{1476-5470}}, keywords = {{Adult; Alleles; Ankyrin Repeat/genetics; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Male; Middle Aged; Multiple Sclerosis/genetics; Oxidoreductases Acting on CH-CH Group Donors/genetics; Polymorphism, Single Nucleotide; Young Adult}}, language = {{eng}}, number = {{3}}, pages = {{7--253}}, publisher = {{Nature Publishing Group}}, series = {{Genes and Immunity}}, title = {{ANKRD55 and DHCR7 are novel multiple sclerosis risk loci}}, url = {{http://dx.doi.org/10.1038/gene.2011.81}}, doi = {{10.1038/gene.2011.81}}, volume = {{13}}, year = {{2012}}, }