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Table 2 Association of common DNASE1L3 polymorphisms with DNAse1L3 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 DNase1L3 protein levelc

Pd

Homozygous (ref allele)

Heterozygous

Homozygous (alternative allele)

rs2292677

58210912

c.-6G > A

 

5’UTR

0.375

0.91 (0.73–1.35)

n = 20

0.93 (0.64–1.13)

n = 25

0.77 (0.32 –1.88)

n = 7

0.75

rs34252389

58210856

c.51C > T

 

Exon 1

0.038

0.91 (0.60–1.18)

n = 48

1.24 (0.85–1.56)

n = 4

NA

0.49

rs3732631

58208324

c.142-18G > T

 

Intron 1

0.375

0.83 (0.65–1.35)

n = 20

0.94 (0.64–1.13)

n = 25

0.88 (0.63–1.88)

n = 7

0.73

rs74350392

58205547

c.244G > C

p.Gly82Arg

Exon 3

0.029

0.93 (0.65–1.40)

n = 49

0.45 (0.40–0.61)

n = 3

NA

0.72

rs2070117

58205539

c.252G > A

p.Thr84 = 

Exon 3

0.221

0.95 (0.75–1.59

n = 33

0.88 (0.39–1.06)

n = 15

0.69 (0.57–0.81)

n = 4

0.12

rs17058970

58205515

c.276G > C

p.Arg92 = 

Exon 3

0.058

0.92 (0.57–1.42)

n = 47

0.87 (0.77–0.99)

n = 4

0.75

n = 1

0.69

rs3772985

58200992

c.546 + 5G > T

 

Intron 5

0.115

0.92 (0.71–1.41)

n = 40

0.85 (0.45–1.18)

n = 12

NA

0.37

rs35677470

58197909

c.616C > T

p.Arg206Cys

Exon 6

0.067

0.93 (0.65–1.28)

n = 46

0.92 (0.65–1.89)

n = 5

3.3

n = 1

0.48

rs113844064

58197694

c.704 + 127G > T

 

Intron 6

0.040

0.92 (0.64–1.23)

n = 47

0.93 (0.61–1.24)

n = 2

0.77

n = 1

0.50

rs3732630

58193301

c.801 + 42A > G

p.Lys281 = 

Intron 7

0.360

1.01 (0.74–1.42)

n = 30

0.78 (0.48–0.96)

n = 16

0.76 (0.38–1.53)

n = 5

0.21

rs144058112

58193270

c.801 + 73 T > C

 

Intron 7

0.080

0.92 (0.63–1.40)

n = 45

1.03 (0.76–1.29)

n = 2

0.88 (0.83–0.91

n = 3

0.49

rs3732629

58193139

c.801 + 204G > A

 

Intron 7

0.281

0.93 (0.73–1.39)

n = 27

0.77 (0.46–0.96)

n = 15

0.91 (0.48–1.41)

n = 6

0.13

rs34882513

chr3:58192419

c.*268delC

 

3' UTR

0.067

0.89 (0.50–1.13)

n = 45

0.93 (0.78–1.44)

n = 7

NA

0.76

  1. aNomenclature according to NM_004944.4 reference
  2. bMinor Allele Frequency observed in our cohort (n = 52)
  3. cData are represented as median (interquartile range 1—interquartile range 3) of DNase1L3 fold change
  4. dAssociation test ‘s p values obtained using linear regression analysis on log(DNase1L3 fold change) activity 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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