Table 3 Markers achieving confirmation in LM11, 12 either (A) to the end point with which they were associated in ROTA7, 8, 9, 10 or (B) to cDAS28, either genotyped directly (direct), genotype imputed (Impute) or proxy SNP utilized (proxy)

From: Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis

(A)

ROTA marker

Pop

MAF

End point

P-value

Chr

Position

Coding

Info

β or *OR

TCZ P

rs11052877

W

0.38

ACR20_WK24

LASSO

12

9 796 957

CD69

Direct

0.56*

0.0039

rs4910008

W

0.47

cTJC_WK16

LASSO

11

11 436 442

GALNTL4

Direct

−3.28

0.0063

rs9594987

A

0.44

cHAQ_WK16

LASSO

13

43 128 994

ENOX1

Impute (0.996)

−0.10

0.016

rs10108210

A

0.41

cHAQ_WK16

LASSO

8

2 588 854

—

Impute (0.973)

0.09

0.028

rs703297

A

0.48

ACR20_WK24

LASSO

2

19 489 299

—

Direct

0.68*

0.022

rs703505

A

0.42

cHAQ_WK16

LASSO

5

169 741 980

KCNIP1

Direct

−0.09

0.031

rs1560011

A

0.42

ACR20_WK24

LASSO

12

9 714 219

CLEC2D

Direct

0.72*

0.046

(B)

Marker

Pop

MAF

End point

ROTA, assoc.

Chr

Position

Coding/nearby (kb)

Info

CDAS28 week 16

         

ROTA TCZ

LM TCZ

         

P-value

β

P-value

β

rs703505

A

0.42

cHAQ_WK16

LASSO

5

169 741 980

KCNIP1

Direct

0.001

−0.26

0.0002

−0.45

rs4910008

W

0.47

cTJC_WK16

LASSO

11

11 436 442

GALNTL4

Direct

0.01

−0.24

0.04

−0.28

rs11052877

W

0.38

ACR20_WK24

LASSO

12

9 796 957

CD69

Direct

0.01

0.21

0.05

0.23

rs7055107

A

0.48

ACR20_WK24

LASSO

23

46 456 428

SLC9A7

Proxy

0.006

−0.28

0.05

−0.21

  1. Abbreviations: A, All; cDAS28, change in Disease Activity Score; LASSO, least absolute shrinkage and selection operator; LM, LITHE and MEASURE; MAF, minor allele frequency; OR, odds ratio; Pop, population; ROTA, RADIATE, OPTION, TOWARD and AMBITION; SNP, single-nucleotide polymorphism; TCZ, tocilizumab; W, White.
  2. Imputation scores are given within parentheses.
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