Variation in the upstream region of P-Selectin (SELP) is a risk factor for SLE

TY - JOUR

T1 - Variation in the upstream region of P-Selectin (SELP) is a risk factor for SLE

AU - Morris, D L

AU - Graham, R R

AU - Erwig, L-P

AU - Gaffney, P M

AU - Moser, K L

AU - Behrens, T W

AU - Vyse, T J

AU - Graham, D S Cunninghame

PY - 2009

Y1 - 2009

N2 - Systemic lupus erythematosus (SLE) is a complex autoimmune disease. Genome-wide linkage studies implicated a region containing the adhesion molecule P-Selectin. This family-based study revealed two regions of association within P-Selectin. The strongest signal, from a 21.4-kb risk haplotype, stretched from the promoter into the first two consensus repeat (CR) regions (P=8 x 10(-4)), with a second association from a 14.6-kb protective haplotype covering CR 2-9 (P=0.0198). The risk haplotype is tagged by the rare C allele of rs3753306, which disrupts the binding site of the trans-activating transcription factor HNF-1. One other variant (rs3917687) on the risk haplotype was significant after permutation (P(10000)

AB - Systemic lupus erythematosus (SLE) is a complex autoimmune disease. Genome-wide linkage studies implicated a region containing the adhesion molecule P-Selectin. This family-based study revealed two regions of association within P-Selectin. The strongest signal, from a 21.4-kb risk haplotype, stretched from the promoter into the first two consensus repeat (CR) regions (P=8 x 10(-4)), with a second association from a 14.6-kb protective haplotype covering CR 2-9 (P=0.0198). The risk haplotype is tagged by the rare C allele of rs3753306, which disrupts the binding site of the trans-activating transcription factor HNF-1. One other variant (rs3917687) on the risk haplotype was significant after permutation (P(10000)

U2 - 10.1038/gene.2009.17

DO - 10.1038/gene.2009.17

M3 - Article

C2 - 19404301

VL - 10

SP - 404

EP - 413

JO - GENES AND IMMUNITY

JF - GENES AND IMMUNITY

IS - 5

ER -