char = C;code = 67
char = o;code = 111
char = m;code = 109
char = m;code = 109
char = o;code = 111
char = n;code = 110
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char = r;code = 114
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char = a;code = 97
char = n;code = 110
char = t;code = 116
char = s;code = 115
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char = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = l;code = 108
char = c;code = 99
char = i;code = 105
char = u;code = 117
char = m;code = 109
char = -;code = 45
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = s;code = 115
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = c;code = 99
char = e;code = 101
char = p;code = 112
char = t;code = 116
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = r;code = 114
char = e;code = 101
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 = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = t;code = 116
char = a;code = 97
char = l;code = 108
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 = c;code = 99
char = a;code = 97
char = l;code = 108
char = c;code = 99
char = i;code = 105
char = u;code = 117
char = m;code = 109
char = ;code = 32
char = l;code = 108
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = l;code = 108
char = s;code = 115
char = .;code = 46
result sql = Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
char = S;code = 83
char = e;code = 101
char = r;code = 114
char = u;code = 117
char = m;code = 109
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = l;code = 108
char = c;code = 99
char = i;code = 105
char = u;code = 117
char = m;code = 109
char = ;code = 32
char = l;code = 108
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = l;code = 108
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = r;code = 114
char = e;code = 101
char = ;code = 32
char = t;code = 116
char = i;code = 105
char = g;code = 103
char = h;code = 104
char = t;code = 116
char = l;code = 108
char = y;code = 121
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = g;code = 103
char = u;code = 117
char = l;code = 108
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = .;code = 46
char = ;code = 32
char = W;code = 87
char = e;code = 101
char = ;code = 32
char = p;code = 112
char = e;code = 101
char = r;code = 114
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = m;code = 109
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = o;code = 111
char = m;code = 109
char = e;code = 101
char = -;code = 45
char = w;code = 119
char = i;code = 105
char = d;code = 100
char = e;code = 101
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 = i;code = 105
char = o;code = 111
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 = s;code = 115
char = ;code = 32
char = (;code = 40
char = G;code = 71
char = W;code = 87
char = A;code = 65
char = S;code = 83
char = );code = 41
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = p;code = 112
char = o;code = 111
char = p;code = 112
char = u;code = 117
char = l;code = 108
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = -;code = 45
char = b;code = 98
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = d;code = 100
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 = s;code = 115
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = r;code = 114
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = i;code = 105
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = C;code = 67
char = H;code = 72
char = A;code = 65
char = R;code = 82
char = G;code = 71
char = E;code = 69
char = ;code = 32
char = C;code = 67
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = i;code = 105
char = u;code = 117
char = m;code = 109
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = u;code = 117
char = n;code = 110
char = c;code = 99
char = o;code = 111
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = m;code = 109
char = m;code = 109
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = v;code = 118
char = a;code = 97
char = r;code = 114
char = i;code = 105
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = s;code = 115
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 = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = t;code = 116
char = a;code = 97
char = l;code = 108
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 = c;code = 99
char = a;code = 97
char = l;code = 108
char = c;code = 99
char = i;code = 105
char = u;code = 117
char = m;code = 109
char = ;code = 32
char = l;code = 108
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = l;code = 108
char = s;code = 115
char = <;code = 60
char = b;code = 98
char = >;code = 62
char = ;code = 32
char = G;code = 71
char = W;code = 87
char = A;code = 65
char = S;code = 83
char = ;code = 32
char = :;code = 58
char = ;code = 32
char = <;code = 60
char = /;code = 47
char = b;code = 98
char = >;code = 62
char = o;code = 111
char = f;code = 102
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 = c;code = 99
char = a;code = 97
char = l;code = 108
char = c;code = 99
char = i;code = 105
char = u;code = 117
char = m;code = 109
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = a;code = 97
char = s;code = 115
char = ;code = 32
char = p;code = 112
char = e;code = 101
char = r;code = 114
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = m;code = 109
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = 2;code = 50
char = 0;code = 48
char = ;code = 32
char = 6;code = 54
char = 1;code = 49
char = 1;code = 49
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = d;code = 100
char = i;code = 105
char = v;code = 118
char = i;code = 105
char = d;code = 100
char = u;code = 117
char = a;code = 97
char = l;code = 108
char = s;code = 115
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = E;code = 69
char = u;code = 117
char = r;code = 114
char = o;code = 111
char = p;code = 112
char = e;code = 101
char = a;code = 97
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = r;code = 114
char = y;code = 121
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = &;code = 38
char = #;code = 35
char = 8;code = 56
char = 7;code = 55
char = 6;code = 54
char = 4;code = 52
char = ;;code = 59
char = 2;code = 50
char = .;code = 46
char = 5;code = 53
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = l;code = 108
char = l;code = 108
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = o;code = 111
char = t;code = 116
char = y;code = 121
char = p;code = 112
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = i;code = 105
char = m;code = 109
char = p;code = 112
char = u;code = 117
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = s;code = 115
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = l;code = 108
char = e;code = 101
char = -;code = 45
char = n;code = 110
char = u;code = 117
char = c;code = 99
char = l;code = 108
char = e;code = 101
char = o;code = 111
char = t;code = 116
char = i;code = 105
char = d;code = 100
char = e;code = 101
char = ;code = 32
char = p;code = 112
char = o;code = 111
char = l;code = 108
char = y;code = 121
char = m;code = 109
char = o;code = 111
char = r;code = 114
char = p;code = 112
char = h;code = 104
char = i;code = 105
char = s;code = 115
char = m;code = 109
char = s;code = 115
char = ;code = 32
char = (;code = 40
char = S;code = 83
char = N;code = 78
char = P;code = 80
char = s;code = 115
char = );code = 41
char = .;code = 46
char = ;code = 32
char = T;code = 84
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = S;code = 83
char = N;code = 78
char = P;code = 80
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = l;code = 108
char = o;code = 111
char = w;code = 119
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = ;code = 32
char = P;code = 80
char = -;code = 45
char = v;code = 118
char = a;code = 97
char = l;code = 108
char = u;code = 117
char = e;code = 101
char = ;code = 32
char = w;code = 119
char = a;code = 97
char = s;code = 115
char = ;code = 32
char = r;code = 114
char = s;code = 115
char = 1;code = 49
char = 7;code = 55
char = 2;code = 50
char = 5;code = 53
char = 1;code = 49
char = 2;code = 50
char = 2;code = 50
char = 1;code = 49
char = ;code = 32
char = (;code = 40
char = P;code = 80
char = ;code = 32
char = =;code = 61
char = ;code = 32
char = 2;code = 50
char = .;code = 46
char = 4;code = 52
char = ;code = 32
char = *;code = 42
char = ;code = 32
char = 1;code = 49
char = 0;code = 48
char = (;code = 40
char = -;code = 45
char = 2;code = 50
char = 2;code = 50
char = );code = 41
char = ,;code = 44
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = n;code = 110
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = a;code = 97
char = l;code = 108
char = l;code = 108
char = e;code = 101
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = f;code = 102
char = r;code = 114
char = e;code = 101
char = q;code = 113
char = u;code = 117
char = e;code = 101
char = n;code = 110
char = c;code = 99
char = y;code = 121
char = ;code = 32
char = 1;code = 49
char = 4;code = 52
char = %;code = 37
char = );code = 41
char = ;code = 32
char = i;code = 105
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char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = c;code = 99
char = a;code = 97
char = l;code = 108
char = c;code = 99
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char = u;code = 117
char = m;code = 109
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char = s;code = 115
char = e;code = 101
char = n;code = 110
char = s;code = 115
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = r;code = 114
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char = c;code = 99
char = e;code = 101
char = p;code = 112
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char = o;code = 111
char = r;code = 114
char = ;code = 32
char = g;code = 103
char = e;code = 101
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char = e;code = 101
char = ;code = 32
char = (;code = 40
char = C;code = 67
char = A;code = 65
char = S;code = 83
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char = );code = 41
char = .;code = 46
char = ;code = 32
char = T;code = 84
char = h;code = 104
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = l;code = 108
char = e;code = 101
char = a;code = 97
char = d;code = 100
char = ;code = 32
char = S;code = 83
char = N;code = 78
char = P;code = 80
char = ;code = 32
char = w;code = 119
char = a;code = 97
char = s;code = 115
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 = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = h;code = 104
char = i;code = 105
char = g;code = 103
char = h;code = 104
char = e;code = 101
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char = s;code = 115
char = e;code = 101
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char = m;code = 109
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char = c;code = 99
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char = c;code = 99
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char = v;code = 118
char = e;code = 101
char = l;code = 108
char = s;code = 115
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char = [;code = 91
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char = 6;code = 54
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char = m;code = 109
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char = d;code = 100
char = l;code = 108
char = ;code = 32
char = (;code = 40
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char = c;code = 99
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char = y;code = 121
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char = o;code = 111
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char = ;code = 32
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char = h;code = 104
char = e;code = 101
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char = m;code = 109
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char = n;code = 110
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char = ;code = 32
char = G;code = 71
char = ;code = 32
char = a;code = 97
char = l;code = 108
char = l;code = 108
char = e;code = 101
char = l;code = 108
char = e;code = 101
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char = c;code = 99
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char = 0;code = 48
char = .;code = 46
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char = 4;code = 52
char = %;code = 37
char = ;code = 32
char = o;code = 111
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char = c;code = 99
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char = e;code = 101
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char = i;code = 105
char = n;code = 110
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char = C;code = 67
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char = r;code = 114
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char = s;code = 115
char = p;code = 112
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char = a;code = 97
char = l;code = 108
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char = u;code = 117
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char = c;code = 99
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char = c;code = 99
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char = e;code = 101
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char = e;code = 101
char = d;code = 100
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char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = i;code = 105
char = m;code = 109
char = i;code = 105
char = l;code = 108
char = a;code = 97
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char = ;code = 32
char = b;code = 98
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char = t;code = 116
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = l;code = 108
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char = e;code = 101
char = r;code = 114
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char = e;code = 101
char = a;code = 97
char = t;code = 116
char = u;code = 117
char = r;code = 114
char = e;code = 101
char = s;code = 115
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char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = r;code = 114
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = p;code = 112
char = o;code = 111
char = p;code = 112
char = u;code = 117
char = l;code = 108
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
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result sql = Serum calcium levels are tightly regulated. We performed genome-wide association studies (GWAS) in population-based studies participating in the CHARGE Consortium to uncover common genetic variations associated with total serum calcium levels GWAS : of serum calcium concentrations was performed in 20 611 individuals of European ancestry for ∼2.5 million genotyped and imputed single-nucleotide polymorphisms (SNPs). The SNP with the lowest P-value was rs17251221 (P = 2.4 * 10(-22), minor allele frequency 14%) in the calcium-sensing receptor gene (CASR). This lead SNP was associated with higher serum calcium levels [0.06 mg/dl (0.015 mmol/l) per copy of the minor G allele] and accounted for 0.54% of the variance in serum calcium concentrations. The identification of variation in CASR that influences serum calcium concentration confirms the results of earlier candidate gene studies. The G allele of rs17251221 was also associated with higher serum magnesium levels (P = 1.2 * 10(-3)), lower serum phosphate levels (P = 2.8 * 10(-7)) and lower bone mineral density at the lumbar spine (P = 0.038), but not the femoral neck. No additional genomic loci contained SNPs associated at genome-wide significance (P < 5 * 10(-8)). These associations resemble clinical characteristics of patients with familial hypocalciuric hypercalcemia, an autosomal-dominant disease arising from rare inactivating mutations in the CASR gene. We conclude that common genetic variation in the CASR gene is associated with similar but milder features in the general population.

Publication: Hum. Mol. Genet. 2010 Nov 1 ;19(21)::4296-303. :doi: 10.1093/hmg/ddq342.
Publication Date: 2010 Nov 1
Study Author(s): O'Seaghdha, Conall M;Yang, Qiong;Glazer, Nicole L;Leak, Tennille S;Dehghan, Abbas;Smith, Albert V;Kao, W H Linda;Lohman, Kurt;Hwang, Shih-Jen;Johnson, Andrew D;Hofman, Albert;Uitterlinden, Andre G;Chen, Yii-Der Ida;GEFOS Consortium;Brown, Edward M;Siscovick, David S;Harris, Tamara B;Psaty, Bruce M;Coresh, Josef;Gudnason, Vilmundur;Witteman, Jacqueline C;Liu, Yong Mei;Kestenbaum, Bryan R;Fox, Caroline S;Köttgen, Anna;
Institution: Division of Nephrology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Shortcut link to this study:
Serum calcium levels are tightly regulated. We performed genome-wide association studies (GWAS) in population-based studies participating in the CHARGE Consortium to uncover common genetic variations associated with total serum calcium levels GWAS : of serum calcium concentrations was performed in 20 611 individuals of European ancestry for ∼2.5 million genotyped and imputed single-nucleotide polymorphisms (SNPs). The SNP with the lowest P-value was rs17251221 (P = 2.4 * 10(-22), minor allele frequency 14%) in the calcium-sensing receptor gene (CASR). This lead SNP was associated with higher serum calcium levels [0.06 mg/dl (0.015 mmol/l) per copy of the minor G allele] and accounted for 0.54% of the variance in serum calcium concentrations. The identification of variation in CASR that influences serum calcium concentration confirms the results of earlier candidate gene studies. The G allele of rs17251221 was also associated with higher serum magnesium levels (P = 1.2 * 10(-3)), lower serum phosphate levels (P = 2.8 * 10(-7)) and lower bone mineral density at the lumbar spine (P = 0.038), but not the femoral neck. No additional genomic loci contained SNPs associated at genome-wide significance (P < 5 * 10(-8)). These associations resemble clinical characteristics of patients with familial hypocalciuric hypercalcemia, an autosomal-dominant disease arising from rare inactivating mutations in the CASR gene. We conclude that common genetic variation in the CASR gene is associated with similar but milder features in the general population.
PMID: 20705733

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