Details

Autor(en) / Beteiligte

• Alloza, I
• Otaegui, D
• de Lapuente, A Lopez
• Antigüedad, A
• Varadé, J
• Núñez, C
• Arroyo, R
• Urcelay, E
• Fernandez, O
• Leyva, L
• Fedetz, M
• Izquierdo, G
• Lucas, M
• Oliver-Martos, B
• Alcina, A
• Saiz, A
• Blanco, Y
• Comabella, M
• Montalban, X
• Olascoaga, J
• Matesanz, F
• Vandenbroeck, K

Titel

ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

Ist Teil von

• Genes and immunity, 2012-04, Vol.13 (3), p.253-257

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.