Table 1 Clonal hematopoiesis mutations discovered in the study

From: Clonal hematopoiesis in patients with rheumatoid arthritis

Pt. ID

Age at sampling

Gene

Mutation

AA change

VAF

SIFT/Polyphen

Smoking history

Cancer

Medication before sampling

Max MTX dose (mg/week)

RA1

70

GNAS

20:g.57428923G>A

S138N

0.021

0.19/0.27

Ex-smoker

No

MTX, OXI, iaCS

25

RA2

72

TET2

4:g.106155319_106155320insT

V74fs

0.048

NA

Never

No

MTX, OXI, iaCS

25

RA2

36

CBL

11:g.119149250C>T

R420X

0.022

NA

Smoker

No

MTX, OXI, iaCS

25

RA3

68

GNAS

20:g.57429086G>A

A256T

0.027

0.16/0.001

Ex-smoker

No

MTX, OXI, SA, CS, iaCS, golimumab, etanercept

25

RA4

61

TET2

4:g.106157845C>T

Q916X

0.10

NA

Ex-smoker

No

MTX, OXI

10

RA5

67

DNMT3A

2:g.25459850_25459856delATCATTC

V809fs

0.031

NA

Smoker

No

MTX, OXI, SA, CS

25

RA6

55

TP53

17:g.7574003G>A

R342X

0.0432

NA

Smoker

Yesa

MTX, OXI, SA, CS

25

RA7

65

DNMT3A

2:g.25467117G>T

C586X

0.061

NA

Ex-smoker

No

MTX, OXI, CS

25

RA8

70

TET2

4:g.106197060C>G

S1798X

0.057

NA

Smoker

No

MTX, iaCS, abatacept

20

RA9

59

DNMT3A

2:g.25470590A>G

L295P

0.036

0/1

Never

No

MTX, OXI

20

RA9

70

ASXL1

20:g.31022367A>T

K618X

0.077

NA

Ex-smoker

No

MTX, OXI

20

RA10

72

DNMT3A

2:g.25462038C>T

R790K

0.044

0/0.88

Never

No

none

NA

AA1

53

LAMB4

7:g.107688489C>T

R1397Q

0.021

0.63/0

Ex-smoker

No

CS

NA

AA1

53

LAMB4

7:g.107688489C>T

R1397Q

0.039

0.63/0

Ex-smoker

No

CS + CyA

NA

AA2

54

PIGA

X:g.15342786_15342786delC

Splice; impact high

0.13

NA

Never

No

none

NA

AA4

64

ASXL1

20:g.31022288C>A

Y591X

0.14

NA

Smoker

No

none

NA

AA4

64

TET2

4:g.106157409_106157413delAAGAG

Q770fs

0.16

NA

Smoker

No

none

NA

MDS4

57

STAG2

X:g.123202468_123202468delC

H774fs

0.051

NA

Ex-smoker

No

none

NA

  1. Table 1 shows information on patients with clonal hematopoiesis. Additional patient information is presented in the Supplementary material. The mutations are shown in HGVS format in the Hg19 reference genome coordinate system. The amino acid change is shown for the canonical transcript (the CCDS transcript with the longest translation) or for the transcript in which the mutation has the highest impact. Transcript IDs and more detailed information are shown in Supplementary table 2. SIFT and Polyphen scores are prediction scores for missense mutations on the effect for the protein. Both are scaled from 0 to 1. For SIFT, 0 corresponds to deleterious and 1 tolerated. For Polyphen, 1 corresponds to damaging and 0 benign. Disease-modifying medication history before the samples were obtained is included in the table. AA, amino acid; VAF, variant allele frequency; NA, not applicable; Max, maximum; MTX, methotrexate; OXI, hydroxychloroquine; SA, sulfasalazine; CS, corticosteroids; iaCS, intra-articular corticosteroids; CyA, cyclosporine A
  2. aCervical cancer treated with surgery. The patient did not receive chemotherapy, or radiotherapy