Main Menu (Mobile)- Block

Main Menu - Block

High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.

Our Research / Publications
janelia7_blocks-janelia7_biblio_header | block
Nature Genetics. 2016 Mar;48(3):323-30. doi: 10.1038/ng.3496
View Article on
High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. Looger Lab
Sun C, Molineros JE, Looger LL, Zhou X, Kim K, Okada Y, Ma J, Qi Y, Kim-Howard X, Motghare P, Bhattarai K, Adler A, Bang S, Lee H, Kim T, Kang YM, Suh C, Chung WT, Park Y, Choe J, Shim SC, Kochi Y, Suzuki A, Kubo M, Sumida T, Yamamoto K, Lee S, Kim YJ, Han B, Dozmorov M, Kaufman KM, Wren JD, Harley JB, Shen N, Chua KH, Zhang H, Bae S, Nath SK
janelia7_blocks-janelia7_biblio_abstract | block

Abstract

Systemic lupus erythematosus (SLE) has a strong but incompletely understood genetic architecture. We conducted an association study with replication in 4,478 SLE cases and 12,656 controls from six East Asian cohorts to identify new SLE susceptibility loci and better localize known loci. We identified ten new loci and confirmed 20 known loci with genome-wide significance. Among the new loci, the most significant locus was GTF2IRD1-GTF2I at 7q11.23 (rs73366469, Pmeta = 3.75 × 10(-117), odds ratio (OR) = 2.38), followed by DEF6, IL12B, TCF7, TERT, CD226, PCNXL3, RASGRP1, SYNGR1 and SIGLEC6. We identified the most likely functional variants at each locus by analyzing epigenetic marks and gene expression data. Ten candidate variants are known to alter gene expression in cis or in trans. Enrichment analysis highlights the importance of these loci in B cell and T cell biology. The new loci, together with previously known loci, increase the explained heritability of SLE to 24%. The new loci share functional and ontological characteristics with previously reported loci and are possible drug targets for SLE therapeutics.

PMID: 26808113 [PubMed - indexed for MEDLINE]

node:body | entity_field
janelia7_blocks-janelia7_biblio_authors | block

Janelia Authors

Loren Looger
janelia7_blocks-janelia7_biblio_tools | block