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ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

Alloza, I LU ; Otaegui, D ; de Lapuente, A Lopez ; Antigüedad, A ; Varadé, J ; Núñez, C ; Arroyo, R ; Urcelay, E ; Fernandez, O and Leyva, L , et al. (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.

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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
2024-05-30 06:40:05
@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'&lt; 0.31; r(2)&lt; 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}},
}