TY - JOUR
T1 - Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations
AU - Wang, Chuan
AU - Ahlford, Annika
AU - Jarvinen, Tiina M.
AU - Nordmark, Gunnel
AU - Eloranta, Maija-Leena
AU - Gunnarsson, Iva
AU - Svenungsson, Elisabet
AU - Padyukov, Leonid
AU - Sturfelt, Gunnar
AU - Jönsen, Andreas
AU - Bengtsson, Anders
AU - Truedsson, Lennart
AU - Eriksson, Catharina
AU - Rantapaa-Dahlqvist, Solbritt
AU - Sjowall, Christopher
AU - Julkunen, Heikki
AU - Criswell, Lindsey A.
AU - Graham, Robert R.
AU - Behrens, Timothy W.
AU - Kere, Juha
AU - Ronnblom, Lars
AU - Syvanen, Ann-Christine
AU - Sandling, Johanna K.
PY - 2013
Y1 - 2013
N2 - Recent genome-wide association studies (GWASs) conducted in Asian populations have identified novel risk loci for systemic lupus erythematosus (SLE). Here, we genotyped 10 single-nucleotide polymorphisms (SNPs) in eight such loci and investigated their disease associations in three independent Caucasian SLE case-control cohorts recruited from Sweden, Finland and the United States. The disease associations of the SNPs in ETS1, IKZF1, LRRC18-WDFY4, RASGRP3, SLC15A4, TNIP1 and 16p11.2 were replicated, whereas no solid evidence of association was observed for the 7q11.23 locus in the Caucasian cohorts. SLC15A4 was significantly associated with renal involvement in SLE. The association of TNIP1 was more pronounced in SLE patients with renal and immunological disorder, which is corroborated by two previous studies in Asian cohorts. The effects of all the associated SNPs, either conferring risk for or being protective against SLE, were in the same direction in Caucasians and Asians. The magnitudes of the allelic effects for most of the SNPs were also comparable across different ethnic groups. On the contrary, remarkable differences in allele frequencies between Caucasian and Asian populations were observed for all associated SNPs. In conclusion, most of the novel SLE risk loci identified by GWASs in Asian populations were also associated with SLE in Caucasian populations. We observed both similarities and differences with respect to the effect sizes and risk allele frequencies across ethnicities.
AB - Recent genome-wide association studies (GWASs) conducted in Asian populations have identified novel risk loci for systemic lupus erythematosus (SLE). Here, we genotyped 10 single-nucleotide polymorphisms (SNPs) in eight such loci and investigated their disease associations in three independent Caucasian SLE case-control cohorts recruited from Sweden, Finland and the United States. The disease associations of the SNPs in ETS1, IKZF1, LRRC18-WDFY4, RASGRP3, SLC15A4, TNIP1 and 16p11.2 were replicated, whereas no solid evidence of association was observed for the 7q11.23 locus in the Caucasian cohorts. SLC15A4 was significantly associated with renal involvement in SLE. The association of TNIP1 was more pronounced in SLE patients with renal and immunological disorder, which is corroborated by two previous studies in Asian cohorts. The effects of all the associated SNPs, either conferring risk for or being protective against SLE, were in the same direction in Caucasians and Asians. The magnitudes of the allelic effects for most of the SNPs were also comparable across different ethnic groups. On the contrary, remarkable differences in allele frequencies between Caucasian and Asian populations were observed for all associated SNPs. In conclusion, most of the novel SLE risk loci identified by GWASs in Asian populations were also associated with SLE in Caucasian populations. We observed both similarities and differences with respect to the effect sizes and risk allele frequencies across ethnicities.
KW - systemic lupus erythematosus
KW - genetic-association study
KW - Asian
KW - Caucasian
U2 - 10.1038/ejhg.2012.277
DO - 10.1038/ejhg.2012.277
M3 - Article
SN - 1476-5438
VL - 21
SP - 994
EP - 999
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 9
ER -