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Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD

Linnea Jarenbäck, Sophia Frantz, Julie Weidner, Jaro Ankerst, Ulf Nihlén, Leif Bjermer, Per Wollmer, Ellen Tufvesson
ERJ Open Research 2022 8: 00668-2021; DOI: 10.1183/23120541.00668-2021
Linnea Jarenbäck
1Dept of Clinical Sciences Lund, Respiratory Medicine and Allergology, Lund University, Lund, Sweden
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  • ORCID record for Linnea Jarenbäck
Sophia Frantz
2Dept of Translational Science, Clinical Physiology, Lund University, Skåne University Hospital, Malmö, Sweden
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Julie Weidner
1Dept of Clinical Sciences Lund, Respiratory Medicine and Allergology, Lund University, Lund, Sweden
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Jaro Ankerst
1Dept of Clinical Sciences Lund, Respiratory Medicine and Allergology, Lund University, Lund, Sweden
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Ulf Nihlén
1Dept of Clinical Sciences Lund, Respiratory Medicine and Allergology, Lund University, Lund, Sweden
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Leif Bjermer
1Dept of Clinical Sciences Lund, Respiratory Medicine and Allergology, Lund University, Lund, Sweden
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Per Wollmer
2Dept of Translational Science, Clinical Physiology, Lund University, Skåne University Hospital, Malmö, Sweden
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Ellen Tufvesson
1Dept of Clinical Sciences Lund, Respiratory Medicine and Allergology, Lund University, Lund, Sweden
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  • For correspondence: ellen.tufvesson@med.lu.se
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  • FIGURE 1
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    FIGURE 1

    Lung function in COPD patients and controls divided by single nucleotide polymorphism rs793391 genotypes (as representative for block 2). a) Forced expiratory volume in 1 s (FEV1), b) FEV1/forced vital capacity (FVC) ratio, c) resistance at 5 Hz (R5) and d) reactance area (AX) are divided according to the genotype of rs793391. One-way ANOVA was used for overall comparison among the groups (*: p<0.05), followed by Bonferroni's multiple comparison test between separate groups (#: p<0.05). Genotypes are presented with the reference/reference genotype to the left. Data are presented as box-plots showing the median within the box of 25th–75th percentile and whiskers of 5th–95th percentile.

  • FIGURE 2
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    FIGURE 2

    Lung function in COPD patients and controls divided by single nucleotide polymorphism rs3864051 genotypes. a) Forced expiratory volume in 1 s (FEV1), b) FEV1/forced vital capacity (FVC), c) diffusing capacity of the lung for carbon monoxide (DLCO) and d) reactance area (AX) are divided according to the genotype of rs3864051. One-way ANOVA was used for overall comparison among the groups (*: p<0.05, ***: p<0.001), followed by Bonferroni's multiple comparison test between separate groups (#: p<0.05, ###: p<0.001). Genotypes are presented with the reference/reference genotype to the left. Data are presented as box-plots showing the median within the box of 25th–75th percentile and whiskers of 5th–95th percentile.

  • FIGURE 3
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    FIGURE 3

    Lung function in COPD patients and controls divided by single nucleotide polymorphism rs11915920 genotypes (as representative for block 1). a) Forced vital capacity (FVC), b) total lung capacity (TLC), c) alveolar volume (VA) and d) diffusing capacity of the lung for carbon monoxide (DLCO)/VA are divided according to the genotype of 11915920. One-way ANOVA was used for overall comparison among the groups (*: p<0.05), followed by Bonferroni's multiple comparison test between separate groups (#: p<0.05). Genotypes are presented with the reference/reference genotype to the left. Data are presented as box-plots showing the median within the box of 25th–75th percentile and whiskers of 5th–95th percentile.

Tables

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  • TABLE 1

    Patient characteristics and lung function

    ControlsCOPDp-value
    Patients405154
    Female/male239/166 (59/41)71/83 (46/54)0.006
    Age, years62±866±6<0.001
    Weight, kg77±1677±150.99
    Height, cm170±9171±90.025
    Smoking status, never-/former/current smoker76/145/1845/92/57<0.001
    Smoking, pack-years22±1836±20<0.001
    GOLD stage 1/2/3/4NA23/96/31/4NA
    Lung function
     FEV1, L2.85±0.711.87±0.64<0.001
     FEV1, % pred97±1363±17<0.001
     FVC, L3.40±0.853.19±1.020.023
     FVC, % pred91±1283±19<0.001
     FEV1/FVC0.84±0.060.60±0.17<0.001
     RV, % pred116±21150±45<0.001
     TLC, % pred102±11106±170.003
     DLCO, % pred93±1666±20<0.001
     VA, % pred96±1691±13<0.001
     DLCO/VA, % pred97±1572±20<0.001
     R5, kPa·s·L−10.31±0.110.41±0.17<0.001
     R20, kPa·s·L−10.24±0.080.28±0.09<0.001
     R5–R20, kPa·s·L−10.07±0.050.13±0.10<0.001
     X5, kPa·s·L−1−0.09±0.05−0.18±0.13<0.001
     AX, kPa·s·L−10.34±0.391.13±1.33<0.001

    Data are presented as n, n (%) or mean±sd, unless otherwise stated. Significant differences are depicted in bold. Categorical data were analysed using the Chi-squared test and numeric data were analysed with the t-test. GOLD: Global Initiative for Chronic Obstructive Lung Disease; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; RV: residual volume; TLC: total lung capacity; DLCO: diffusing lung capacity of the lung for carbon monoxide; VA: alveolar volume; R5: resistance at 5 Hz; R20: resistance at 20 Hz; X5: reactance at 5 Hz; AX: reactance area; NA: not applicable.

    • TABLE 2

      Genotype frequencies in healthy and COPD groups, and associations between different genotypes of sulfatase modifying factor (SUMF1) single nucleotide polymorphisms (SNPs)# and COPD¶

      ref/refref/var
      var/var
      p-valueOR (95% CI)+
      HealthyCOPDHealthyCOPD
      rs1356229CC387 (96)149 (97)CT16 (4)5 (3)0.741.20 (0.42–3.45)
      TT0 (0)0 (0)
      rs308739CC348 (87)136 (88)TT54 (13)18 (12)0.981.01 (0.56–1.82)
      AA0 (0)0 (0)
      rs4685744CC109 (27)43 (28)CT187 (46)73 (47)0.830.95 (0.60–1.51)
      TT107 (27)38 (25)0.600.87 (0.51–1.47)
      rs2819562CC87 (22)36 (23)CT182 (45)74 (48)0.630.89 (0.54–1.45)
      TT133 (33)44 (29)0.290.75 (0.44–1.28)
      rs2819561AA87 (22)36 (23)AG183 (46)74 (48)0.610.88 (0.54–1.44)
      GG132 (33)44 (29)0.290.75 (0.44–1.29)
      rs2633852AA85 (21)36 (23)AG181 (45)74 (48)0.610.88 (0.54–1.44)
      GG134 (34)44 (29)0.260.73 (0.43–1.26)
      rs11915920CC111 (28)43 (28)CT186 (46)75 (49)0.991.00 (0.63–1.58)
      TT105 (26)36 (23)0.550.85 (0.50–1.45)
      rs807785CC33 (8)17 (11)CT164 (41)70 (45)0.880.95 (0.49–1.85)
      TT206 (51)67 (44)0.390.75 (0.39–1.46)
      rs3864051CC228 (57)69 (45)CT171 (43)74 (48)0.131.36 (0.92–2.03)
      TT2 (0.5)11 (7)0.00114.22 (3.04–66.49)
      rs794187CC163 (41)68 (44)CT190 (47)70 (46)0.370.83 (0.55–1.25)
      TT49 (12)16 (10)0.460.78 (0.41–1.50)
      rs794185TT114 (28)52 (34)TC211 (52)76 (49)0.150.73 (0.47–1.12)
      CC78 (19)26 (17)0.330.75 (0.43–1.34)
      rs2322683CC53 (13)20 (13)CT181 (45)56 (37)0.510.81 (0.44–1.50)
      TT169 (42)77 (50)0.461.25 (0.69–2.29)
      rs793391TT174 (43)81 (53)TG185 (46)54 (35)0.0130.59 (0.39–0.89)
      GG44 (11)19 (12)0.700.88 (0.48–1.64)
      rs12634249CC225 (56)96 (62)CA157 (39)46 (30)0.0340.63 (0.42–0.97)
      AA21 (5)12 (8)0.561.26 (0.58–2.73)
      rs2819590CC192 (48)91 (59)CT175 (44)47 (31)0.0060.55 (0.36–0.84)
      TT33 (8)16 (10)0.971.01 (0.52–1.98)
      rs304092GG191 (47)86 (56)GA176 (44)53 (34)0.0310.63 (0.42–0.96)
      AA35 (9)15 (10)0.880.95 (0.48–1.86)

      Data are presented as n (%), unless otherwise stated. Significant associations are depicted in bold. #: SNPs are sorted according to chromosome localisation (chromosome localisation is from GRCh38.p12); ¶: logistic regression between reference allele (ref)/ref and ref/variance allele (var) or var/var as indicated, and adjusted for age, sex and smoking status; +: odds ratio of having COPD depending on allele on different SNP in SUMF1.

      • TABLE 3

        Associations between different genotypes of sulfatase modifying factor (SUMF1) single nucleotide polymorphisms and forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC ratio in the total study population including both COPD and control subjects

        ref/refref/varFEV1FVCFEV1/FVC
        var/var
        rs4685744CCCT0.820.030
        B= −0.12
        0.093
        B=0.024
        TT0.810.037
        B= −0.14
        0.27
        rs2819562CCCT0.790.048
        B= −0.12
        0.076
        B=0.027
        TT0.730.057
        B= −0.13
        0.074
        B=0.030
        rs2819561AAAG0.760.050
        B= −0.12
        0.073
        B=0.0028
        GG0.710.060
        B= −0.12
        0.076
        B=0.029
        rs2633852AAAG0.720.062
        B= −0.12
        0.075
        B=0.028
        GG0.670.071
        B= −0.12
        0.073
        B=0.030
        rs11915920CCCT0.980.021
        B= −0.13
        0.15
        TT0.840.031
        B= −0.14
        0.23
        rs807785CCCT0.870.640.61
        TT0.410.870.16
        rs3864051CCCT0.480.140.67
        TT<0.001
        B= −0.64
        0.31<0.001
        B= −0.20
        rs794187CCCT0.028
        B=0.12
        0.062
        B=0.094
        0.22
        TT0.720.620.98
        rs794185TTTC0.002
        B=0.18
        0.004
        B=0.16
        0.11
        CC0.033
        B=0.16
        0.057
        B=0.13
        0.32
        rs2322683CCCT0.170.250.41
        TT0.870.570.82
        rs793391TTTG0.024
        B=0.12
        0.420.039
        B=0.026
        GG0.660.650.79
        rs12634249CCCA0.039
        B=0.11
        0.300.060
        B=0.024
        AA0.120.890.077
        B= −0.045
        rs2819590CCCT0.010
        B=0.14
        0.360.016
        B=0.030
        TT0.760.740.42
        rs304092GGGA0.025
        B=0.12
        0.440.037
        B=0.026
        AA0.990.530.39

        Data are presented as p-values from linear regression between the reference allele (ref)/ref and ref/variance allele (var) or var/var (using ref/ref as reference genotype) as indicated, and adjusted for age, sex, height and smoking status. B-value is the unstandardised β-value, and is presented when p<0.1. Significant associations are depicted in bold.

        • TABLE 4

          Associations between different genotypes of sulfatase modifying factor (SUMF1) single nucleotide polymorphisms and diffusing capacity and lung volumes in the total study population including both COPD and control subjects

          ref/refref/varDLCOVADLCO/VARVTLC
          var/var
          rs4685744CCCT0.260.230.080
          B=0.048
          0.460.088
          B= −0.14
          TT0.140.006
          B= −0.22
          0.0
          B=0.11
          0.068
          B=−0,15
          0.009
          B= −0.25
          rs2819562CCCT0.120.410.023
          B=0.067
          0.490.13
          TT0.041
          B=0.38
          0.083
          B= −0.14
          <0.001
          B=0.11
          0.068
          B=−0.15
          0.024
          B= −0.22
          rs2819561AAAG0.120.410.023
          B=0.067
          0.470.12
          GG0.036
          B=0.39
          0.090
          B= −0.14
          <0.001
          B=0.11
          0.069
          B=−0.15
          0.027
          B= −0.21
          rs2633852AAAG0.120.400.022
          B=0.068
          0.410.11
          GG0.044
          B=0.38
          0.099
          B= −0.14
          0.001
          B=0.11
          0.062
          B= −0.15
          0.025
          B= −0.22
          rs11915920CCCT0.370.190.120.560.10
          B= −0.14
          TT0.110.010
          B= −0.21
          <0.001
          B=0.11
          0.059
          B= −0.15
          0.012
          B= −0.24
          rs807785CCCT0.910.380.750.260.062
          B= −0.24
          TT0.720.870.670.180.23
          rs3864051CCCT0.120.057
          B=0.11
          0.700.560.063
          B=0.13
          TT0.029
          B= −1.01
          0.490.080
          B= −0.14
          0.160.29
          rs794187CCCT0.150.030
          B=0.13
          0.810.670.69
          TT0.670.940.640.800.91
          rs794185TTTC0.091
          B=0.26
          0.001
          B=0.22
          0.860.320.36
          CC0.140.290.330.370.76
          rs2322683CCCT0.960.061
          B=0.17
          0.350.660.22
          TT0.820.500.490.910.26
          rs793391TTTG0.340.064
          B=0.11
          0.860.440.92
          GG0.700.640.910.510.50
          rs12634249CCCA0.840.580.920.022
          B= −0.14
          0.29
          AA0.180.730.250.270.81
          rs2819590CCCT0.320.078
          B=0.11
          0.730.280.54
          TT0.450.910.390.160.52
          rs304092GGGA0.430.095
          B=0.10
          0.890.450.48
          AA0.780.710.520.280.60

          Data are presented as p-values from linear regression between the reference allele (ref)/ref and ref/variance allele (var) or var/var as indicated, and adjusted for age, sex, height and smoking status. B-value is the unstandardised β-value, and is shown when p<0.1. Significant associations are depicted in bold. DLCO: diffusing capacity of the lung for carbon monoxide; VA: alveolar volume; RV: residual volume; TLC: total lung capacity.

          • TABLE 5

            Associations between different genotypes of sulfatase modifying factor (SUMF1) single nucleotide polymorphisms and airway resistance and reactance measured by impulse oscillometry in the total study population including both COPD and control subjects

            ref/refref/varR5R20R5–R20X5AX
            var/var
            rs4685744CCCT0.560.350.820.830.72
            TT0.320.460.440.640.95
            rs2819562CCCT0.320.410.280.520.21
            TT0.690.820.800.950.61
            rs2819561AAAG0.310.410.270.500.20
            GG0.670.850.740.940.63
            rs2633852AAAG0.270.330.260.480.19
            GG0.830.990.860.970.55
            rs11915920CCCT0.610.360.890.700.85
            TT0.330.520.390.650.92
            rs807785CCCT0.450.850.140.130.22
            TT0.490.760.150.095
            B=0.022
            0.26
            rs3864051CCCT0.290.450.390.210.36
            TT0.032
            B=0.079
            0.430.003
            B=0.062
            0.005
            B= −0.067
            0.009
            B=0.61
            rs794187CCCT0.086
            B= −0.020
            0.720.013
            B= −0.017
            0.018
            B=0.018
            0.015
            B= −0.18
            TT0.790.930.560.910.79
            rs794185TTTC0.002
            B= −0.039
            0.14<0.001
            B= −0.026
            <0.001
            B=0.030
            <0.001
            B= −0.30
            CC0.030
            B= −0.035
            0.390.004
            B= −0.026
            0.031
            B=0.023
            0.020
            B= −0.24
            rs2322683CCCT0.210.330.270.110.11
            TT0.620.890.480.890.81
            rs793391TTTG0.014
            B= −0.029
            0.160.007
            B= −0.018
            0.012
            B=0.019
            0.008
            B= −0.20
            GG0.600.710.610.961.00
            rs12634249CCCA0.130.680.029
            B= −0.014
            0.024
            B=0.017
            0.028
            B= −0.16
            AA0.390.870.300.590.48
            rs2819590CCCT0.010
            B= −0.030
            0.048
            B= −0.014
            0.021
            B= −0.015
            0.025
            B=0.17
            0.011
            B= −0.19
            TT0.850.920.840.650.71
            rs304092GGGA0.010
            B= −0.030
            0.053
            B= −0.014
            0.018
            B= −0.016
            0.029
            B=0.017
            0.022
            B= −0.17
            AA0.810.780.920.690.66

            Data are presented as p-values from linear regression between the reference allele (ref)/ref and ref/variance allele (var) or var/var, adjusted for age, sex, height and smoking status. B-value is the unstandardised β-value and is shown when p<0.1. Significant associations are depicted in bold. R5: resistance at 5 Hz; R20: resistance at 20 Hz; X5: reactance at 5 Hz; AX: reactance area.

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              Supplementary material 00668-2021.SUPPLEMENT

              Figure S1 00668-2021.FIGURES1

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            Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD
            Linnea Jarenbäck, Sophia Frantz, Julie Weidner, Jaro Ankerst, Ulf Nihlén, Leif Bjermer, Per Wollmer, Ellen Tufvesson
            ERJ Open Research Apr 2022, 8 (2) 00668-2021; DOI: 10.1183/23120541.00668-2021

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            Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD
            Linnea Jarenbäck, Sophia Frantz, Julie Weidner, Jaro Ankerst, Ulf Nihlén, Leif Bjermer, Per Wollmer, Ellen Tufvesson
            ERJ Open Research Apr 2022, 8 (2) 00668-2021; DOI: 10.1183/23120541.00668-2021
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