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Table 3 Association of DNASE1 polymorphisms with DNase1 level in hospitalized patients

From: Impaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease

rsID

Genomic position (GRCh38)

Allelesa

Amino Acid position

Localization

MAFb

Effect on DNase1 protein levelc

Pd

Homozygous (ref allele)

Heterozygous

Homozygous (alternative allele)

rs45564535

3653249

c.-1797A > C

NA

Upstream transcript

0.029

0.76 (0.35–1.58)

n = 49

0.19 (0.14–0.54)

n = 3

NA

0.0155

rs45606645

3653474

c.-1572 T > C

NA

Upstream transcript

0.029

0.76 (0.35–1.58)

n = 49

0.19 (0.14–0.54)

n = 3

NA

0.0155

rs45626736

3653508

c.-1538G > A

NA

Upstream transcript

0.0288

0.76 (0.35–1.58)

n = 49

0.19 (0.14–0.54)

n = 3

NA

0.0155

rs865833716

3653840

c.-1206A > C

NA

Upstream transcript

0.0294

0.77 (0.36–1.60)

n = 48

0.19 (0.14–0.54)

n = 3

NA

0.0132

rs867920095

3653841

c.-1205A > G

NA

Upstream transcript

0.030

0.78 (0.43–1.62)

n = 47

0.19 (0.14–0.54)

n = 3

NA

9.55 10–3

rs77563984

3653879

c.-1167C > T

NA

Upstream transcript

0.03

0.79 (0.43–1.62)

n = 47

0.19 (0.14–0.54)

n = 3

NA

9.55 10–3

rs79356805

3653880

c.-1166C > G

NA

Upstream transcript

0.03

0.79 (0.43–1.62)

n = 47

0.19 (0.14–0.54)

n = 3

NA

9.55 10–3

rs17136471

3654596

c.-450G > A

 

Upstream transcript

0.0385

0.77 (0.33–1.60)

n = 48

0.41 (0.17–0.70)

n = 4

NA

0.0158

NA

3654725_ 3654729

c.-317_-313del

 

5’UTR

0.0385

0.76 (0.30–1.52)

n = 48

0.74 (0.46–1.61)

n = 4

NA

0.860

rs117176134

3655097

c.-2 + 54G > C

 

Intron 1

0.0288

0.75 (0.25–1.37)

n = 49

2.07 (1.37–2.91)

n = 3

NA

0.341

rs8176922

3655358

c.-1-15C > T

 

Intron 1

0.0288

0.76 (0.35–1.58)

n = 49

0.19 (0.14–0.54)

n = 3

NA

0.0155

rs146417970

3655625

c.147 + 105 T > C

 

Intron 2

0.0288

0.76 (0.27–1.58)

n = 49

0.57 (0.41–0.68)

n = 3

NA

0.485

rs181314680

3655818

c.148-31C > G

 

Intron 2

0.0288

0.78 (0.27–1.58)

n = 49

0.62 (0.43–0.63)

n = 3

NA

0.105

rs1799892

3657408

c.704 + 67G > C

 

Intron 7

0.4231

0.75 (0.26–1.69)

n = 19

0.83 (0.58–1.53)

n = 22

0.55 (0.21–1.18)

n = 11

0.164

rs1053874

3657746

c.731G > A

p. (Arg244Gln)

Exon 8

0.43

0.74 (0.31–2.02)

n = 20

0.90 (0.58–1.33)

n = 17

0.58 (0.24–1.37)

n = 13

0.175

  1. aNomenclature according to NM_005223.4 reference
  2. bMinor Allele Frequency observed in our cohort (n = 52)
  3. cData are represented as median (interquartile range 1—interquartile range 3) of DNase1 fold change
  4. dAssociation test ‘s pvalues obtained using compound Poisson Gamma model on DNase1 fold change level under the assumption of dominant genetic effects, adjusted for age and sex
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Journal of Translational Medicine

ISSN: 1479-5876

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