All polymorphisms studied in this paper [PMID: 24532677] , total : 34 polymorphisms

Title : A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.

Abstract : INTRODUCTION: Rheumatoid arthritis (RA) patients can be classified based on presence or absence of anticitrullinated peptide antibodies (ACPA) in their serum. This heterogeneity among patients may reflect important biological differences underlying the disease process. To date, the majority of genetic studies have focused on the ACPA-positive group. Therefore, our goal was to analyse the genetic risk factors that contribute to ACPA-negative RA. METHODS: We performed a large-scale genome-wide association study (GWAS) in three Caucasian European cohorts comprising 1148 ACPA-negative RA patients and 6008 controls. All patients were screened using the Illumina Human Cyto-12 chip, and controls were genotyped using different genome-wide platforms. Population-independent analyses were carried out by means of logistic regression. Meta-analysis with previously published data was performed as follow-up for selected signals (reaching a total of 1922 ACPA-negative RA patients and 7087 controls). Imputation of classical HLA alleles, amino acid residues and single nucleotide polymorphisms was undertaken. RESULTS: The combined analysis of the studied cohorts resulted in identification of a peak of association in the HLA-region and several suggestive non-HLA associations. Meta-analysis with previous reports confirmed the association of the HLA region with this subset and an observed association in the CLYBL locus remained suggestive. The imputation and deep interrogation of the HLA region led to identification of a two amino acid model (HLA-B at position 9 and HLA-DRB1 at position 11) that accounted for the observed genome-wide associations in this region. CONCLUSIONS: Our study shed light on the influence of the HLA region in ACPA-negative RA and identified a suggestive risk locus for this condition.

Author : Bossini-Castillo L,de Kovel C,Kallberg H,van 't Slot R,Italiaander A,Coenen M,Tak PP,Posthumus MD,Wijmenga C,Huizinga T,van der Helm-van Mil AH,Stoeken-Rijsbergen G,Rodriguez-Rodriguez L,Balsa A,Gonzalez-Alvaro I,Angel Gonzalez-Gay M,Gomez-Vaquero C,Franke B,Vermeulen S,van der Horst-Bruinsma I,Dijkmans BA,Wolbink GJ,Ophoff RA,Maehlen MT,van Riel P,Merriman M,Klareskog L,Lie BA,Merriman T,Crusius JB,Brouwer E,Martin J,de Vries N,Toes R,Padyukov L,Koeleman BP,

Source : Ann Rheum Dis. 2014 Feb 28. doi: 10.1136/annrheumdis-2013-204591.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs14008	TACSTD2	4070
2	rs6684037	NA	NA
3	rs383582	SPRR2F	6705
4	rs10929178	USP40	55230
5	rs7609626	ERC2	26059
6	rs929701	PRICKLE2	166336
7	rs13100540	NA	NA
8	rs9857831	NA	NA
9	rs2732512	PPP3CA	5530
10	rs17598783	LMNB1	4001
11	rs12657428	NA	NA
12	rs6463923	NA	NA
13	rs10216141	NA	NA
14	rs848324	NA	NA
15	rs38723	NA	NA
16	rs557962	TMEM178B	100507421
17	rs17642674	NA	NA
18	rs7047525	NA	NA
19	rs10997948	MYPN	84665
20	rs7921298	ADAMTS14	140766
21	rs4329625	NRG3	10718
22	rs7927817	NA	NA
23	rs3824854	MACROD1	28992
24	rs518167	GRM5	2915
25	rs7959721	SYT1	6857
26	rs3790022	GUCY1B2	2974
27	rs9557321	CLYBL	171425
28	rs16963882	NA	NA
29	rs598858	FOXN1	8456
30	rs11651168	NA	NA