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char = U;code = 85
char = M;code = 77
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char = k;code = 107
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char = d;code = 100
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char = s;code = 115
char = e;code = 101
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char = ;code = 32
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char = i;code = 105
char = d;code = 100
char = n;code = 110
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char = t;code = 116
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char = e;code = 101
char = s;code = 115
char = -;code = 45
char = r;code = 114
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char = l;code = 108
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = a;code = 97
char = g;code = 103
char = e;code = 101
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char = a;code = 97
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char = ;code = 32
char = c;code = 99
char = o;code = 111
char = m;code = 109
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char = d;code = 100
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char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = s;code = 115
char = .;code = 46
result sql = Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
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char = C;code = 67
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char = D;code = 68
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char = e;code = 101
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char = n;code = 110
char = ;code = 32
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char = e;code = 101
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char = o;code = 111
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char = s;code = 115
char = e;code = 101
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char = i;code = 105
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char = h;code = 104
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char = r;code = 114
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char = s;code = 115
char = i;code = 105
char = o;code = 111
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char = ;code = 32
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char = a;code = 97
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char = e;code = 101
char = t;code = 116
char = e;code = 101
char = s;code = 115
char = .;code = 46
char = ;code = 32
char = T;code = 84
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = v;code = 118
char = a;code = 97
char = r;code = 114
char = i;code = 105
char = a;code = 97
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = a;code = 97
char = l;code = 108
char = s;code = 115
char = o;code = 111
char = ;code = 32
char = a;code = 97
char = s;code = 115
char = s;code = 115
char = o;code = 111
char = c;code = 99
char = i;code = 105
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = e;code = 101
char = r;code = 114
char = u;code = 117
char = m;code = 109
char = ;code = 32
char = u;code = 117
char = r;code = 114
char = e;code = 101
char = a;code = 97
char = ;code = 32
char = (;code = 40
char = P;code = 80
char = ;code = 32
char = =;code = 61
char = ;code = 32
char = 1;code = 49
char = .;code = 46
char = 0;code = 48
char = ;code = 32
char = x;code = 120
char = ;code = 32
char = 1;code = 49
char = 0;code = 48
char = (;code = 40
char = -;code = 45
char = 6;code = 54
char = );code = 41
char = );code = 41
char = ,;code = 44
char = ;code = 32
char = u;code = 117
char = r;code = 114
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = a;code = 97
char = c;code = 99
char = i;code = 105
char = d;code = 100
char = ;code = 32
char = (;code = 40
char = P;code = 80
char = ;code = 32
char = =;code = 61
char = ;code = 32
char = 0;code = 48
char = .;code = 46
char = 0;code = 48
char = 0;code = 48
char = 6;code = 54
char = 4;code = 52
char = );code = 41
char = ,;code = 44
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = s;code = 115
char = u;code = 117
char = g;code = 103
char = g;code = 103
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = l;code = 108
char = y;code = 121
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = g;code = 103
char = o;code = 111
char = u;code = 117
char = t;code = 116
char = .;code = 46
char = ;code = 32
char = I;code = 73
char = n;code = 110
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = s;code = 115
char = t;code = 116
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = C;code = 67
char = K;code = 75
char = D;code = 68
char = ,;code = 44
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = U;code = 85
char = M;code = 77
char = O;code = 79
char = D;code = 68
char = ;code = 32
char = v;code = 118
char = a;code = 97
char = r;code = 114
char = i;code = 105
char = a;code = 97
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = f;code = 102
char = e;code = 101
char = r;code = 114
char = s;code = 115
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = t;code = 116
char = e;code = 101
char = c;code = 99
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = g;code = 103
char = a;code = 97
char = i;code = 105
char = n;code = 110
char = s;code = 115
char = t;code = 116
char = ;code = 32
char = k;code = 107
char = i;code = 105
char = d;code = 100
char = n;code = 110
char = e;code = 101
char = y;code = 121
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = o;code = 111
char = n;code = 110
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = h;code = 104
char = e;code = 101
char = n;code = 110
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = 3;code = 51
char = ,;code = 44
char = 6;code = 54
char = 1;code = 49
char = 7;code = 55
char = ;code = 32
char = I;code = 73
char = c;code = 99
char = e;code = 101
char = l;code = 108
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = D;code = 68
char = u;code = 117
char = t;code = 116
char = c;code = 99
char = h;code = 104
char = ;code = 32
char = k;code = 107
char = i;code = 105
char = d;code = 100
char = n;code = 110
char = e;code = 101
char = y;code = 121
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = o;code = 111
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = 4;code = 52
char = 3;code = 51
char = ,;code = 44
char = 2;code = 50
char = 0;code = 48
char = 1;code = 49
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = t;code = 116
char = r;code = 114
char = o;code = 111
char = l;code = 108
char = s;code = 115
char = ;code = 32
char = (;code = 40
char = O;code = 79
char = R;code = 82
char = ;code = 32
char = =;code = 61
char = ;code = 32
char = 0;code = 48
char = .;code = 46
char = 8;code = 56
char = 8;code = 56
char = ,;code = 44
char = ;code = 32
char = P;code = 80
char = ;code = 32
char = =;code = 61
char = ;code = 32
char = 5;code = 53
char = .;code = 46
char = 7;code = 55
char = ;code = 32
char = x;code = 120
char = ;code = 32
char = 1;code = 49
char = 0;code = 48
char = (;code = 40
char = -;code = 45
char = 5;code = 53
char = );code = 41
char = );code = 41
char = .;code = 46
char = <;code = 60
char = b;code = 98
char = r;code = 114
char = /;code = 47
char = >;code = 62
result sql = Chronic kidney disease (CKD) is a worldwide public health problem that is associated with substantial morbidity and mortality. To search for sequence variants that associate with CKD, we conducted a genome-wide association study (GWAS) that included a total of 3,203 Icelandic cases and 38,782 controls. We observed an association between CKD and a variant with 80% population frequency, rs4293393-T, positioned next to the UMOD gene (GENEID: 7369) on chromosome 16p12 (OR = 1.25, P = 4.1x10(-10)). This gene encodes uromodulin (Tamm-Horsfall protein), the most abundant protein in mammalian urine. The variant also associates significantly with serum creatinine concentration (SCr) in Icelandic subjects (N = 24,635, P = 1.3 x 10(-23)) but not in a smaller set of healthy Dutch controls (N = 1,819, P = 0.39). Our findings validate the association between the UMOD variant and both CKD and SCr recently discovered in a large GWAS. In the Icelandic dataset, we demonstrate that the effect on SCr increases substantially with both age (P = 3.0 x 10(-17)) and number of comorbid diseases (P = 0.008). The association with CKD is also stronger in the older age groups. These results suggest that the UMOD variant may influence the adaptation of the kidney to age-related risk factors of kidney disease such as hypertension and diabetes. The variant also associates with serum urea (P = 1.0 x 10(-6)), uric acid (P = 0.0064), and suggestively with gout. In contrast to CKD, the UMOD variant confers protection against kidney stones when studied in 3,617 Icelandic and Dutch kidney stone cases and 43,201 controls (OR = 0.88, P = 5.7 x 10(-5)).

Publication: PLoS Genet. 2010 Jul ;6(7)::e1001039. :doi: 10.1371/journal.pgen.1001039.
Publication Date: 2010 Jul
Study Author(s): Gudbjartsson, Daniel F;Holm, Hilma;Indridason, Olafur S;Thorleifsson, Gudmar;Edvardsson, Vidar;Sulem, Patrick;de Vegt, Femmie;d'Ancona, Frank C H;den Heijer, Martin;Wetzels, Jack F M;Franzson, Leifur;Rafnar, Thorunn;Kristjansson, Kristleifur;Bjornsdottir, Unnur S;Eyjolfsson, Gudmundur I;Kiemeney, Lambertus A;Kong, Augustine;Palsson, Runolfur;Thorsteinsdottir, Unnur;Stefansson, Kari;
Institution: deCODE genetics, Reykjavik, Iceland. [email protected]
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Chronic kidney disease (CKD) is a worldwide public health problem that is associated with substantial morbidity and mortality. To search for sequence variants that associate with CKD, we conducted a genome-wide association study (GWAS) that included a total of 3,203 Icelandic cases and 38,782 controls. We observed an association between CKD and a variant with 80% population frequency, rs4293393-T, positioned next to the UMOD gene (GENEID: 7369) on chromosome 16p12 (OR = 1.25, P = 4.1x10(-10)). This gene encodes uromodulin (Tamm-Horsfall protein), the most abundant protein in mammalian urine. The variant also associates significantly with serum creatinine concentration (SCr) in Icelandic subjects (N = 24,635, P = 1.3 x 10(-23)) but not in a smaller set of healthy Dutch controls (N = 1,819, P = 0.39). Our findings validate the association between the UMOD variant and both CKD and SCr recently discovered in a large GWAS. In the Icelandic dataset, we demonstrate that the effect on SCr increases substantially with both age (P = 3.0 x 10(-17)) and number of comorbid diseases (P = 0.008). The association with CKD is also stronger in the older age groups. These results suggest that the UMOD variant may influence the adaptation of the kidney to age-related risk factors of kidney disease such as hypertension and diabetes. The variant also associates with serum urea (P = 1.0 x 10(-6)), uric acid (P = 0.0064), and suggestively with gout. In contrast to CKD, the UMOD variant confers protection against kidney stones when studied in 3,617 Icelandic and Dutch kidney stone cases and 43,201 controls (OR = 0.88, P = 5.7 x 10(-5)).
PMID: 20686651

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