CBS Allele and Genotype Frequencies
Available polymorphism(s)
|
Common Designations |
|
|
rs number
|
Nucleotide change |
Amino acid change |
Genotyping method
|
|
no rs number
|
844ins68 (68-bp insertion in exon 8) |
|
MGB Eclipse |
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| 844ins68 |
|
I |
W |
|
II |
IW |
WW |
|
|
| Non-Hispanic White |
8.1 (7.1, 9.2) |
91.9 (90.8, 92.9) |
<0.001 |
0.5 (0.3, 0.8) |
15.3 (13.3, 17.5) |
84.3 (82.1, 86.2) |
<0.001 |
0.44 |
| Non-Hispanic Black |
25.9 (23.8, 28.1) |
74.1 (71.9, 76.2) |
6.7 (5.4, 8.4) |
38.3 (35.9, 40.7) |
55.0 (51.8, 58.1) |
0.99 |
| Mexican American |
6.3 (5.6, 7.2) |
93.7 (92.8, 94.4) |
0.4 (0.2, 0.8) |
11.9 (10.3, 13.7) |
87.7 (86.0, 89.3) |
0.28 |
| Total* |
10.0 (8.9, 11.1) |
90.0 (88.9, 91.1) |
|
1.2 (0.9, 1.5) |
17.6 (15.7, 19.7) |
81.2 (79.1, 83.3) |
|
|
* Includes all U.S. race/ethnic groups.
† “other” race/ethnicity category was not included in chi-square tests.
‡ P-values from unweighted chi-square goodness-of-fit tests to test for deviations from Hardy-Weinberg (HW) proportions.
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By Age
| Variant |
Age (years) |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| 844ins68 |
|
I |
W |
|
II |
IW |
WW |
|
| 12-19 |
11.6 (9.5, 14.1) |
88.4 (85.9, 90.5) |
0.242 |
2.1 (1.3, 3.5) |
18.9 (15.5, 23.0) |
78.9 (74.6, 82.7) |
0.095 |
| 20-39 |
10.3 (8.6, 12.3) |
89.7 (87.7, 91.4) |
1.2 (0.7, 1.9) |
18.3 (15.3, 21.6) |
80.6 (77.0, 83.7) |
| 40-59 |
9.5 (7.7, 11.7) |
90.5 (88.3, 92.3) |
0.8 (0.5, 1.3) |
17.4 (13.8, 21.8) |
81.8 (77.5, 85.4) |
| >=60 |
8.8 (7.5, 10.3) |
91.2 (89.7, 92.5) |
1.0 (0.7, 1.6) |
15.5 (13.1, 18.1) |
83.5 (80.7, 85.9) |
| Total |
10.0 (8.9, 11.1) |
90.0 (88.9, 91.1) |
|
1.2 (0.9, 1.5) |
17.6 (15.7, 19.7) |
81.2 (79.1, 83.3) |
|
* Includes all participants, regardless of race/ethnicity.
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By Sex
| Variant |
Sex |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| 844ins68 |
|
I |
W |
|
II |
IW |
WW |
|
| Male |
9.7 (8.4, 11.3) |
90.3 (88.7, 91.6) |
0.573 |
1.1 (0.7, 1.6) |
17.3 (14.8, 20.1) |
81.6 (78.7, 84.2) |
0.764 |
| Female |
10.2 (8.9, 11.6) |
89.8 (88.4, 91.1) |
1.3 (1.0, 1.6) |
17.9 (15.5, 20.5) |
80.9 (78.1, 83.3) |
| Total |
10.0 (8.9, 11.1) |
90.0 (88.9, 91.1) |
|
1.2 (0.9, 1.5) |
17.6 (15.7, 19.7) |
81.2 (79.1, 83.3) |
|
* Includes all participants, regardless of race/ethnicity.
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By Race/Ethnicity and Age
| Variant |
Race-ethnicity |
Age (years) |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| 844ins68 |
|
|
I |
W |
II |
IW |
WW |
| Non-Hispanic White |
12-19 |
8.6 (6.4, 11.6) |
91.4 (88.4, 93.6) |
1.2 (0.3, 4.5) |
14.9 (11.4, 19.1) |
83.9 (79.2, 87.8) |
| 20-39 |
8.3 (6.7, 10.2) |
91.7 (89.8, 93.3) |
0.4 (0.2, 1.2) |
15.7 (12.7, 19.2) |
83.9 (80.3, 87.0) |
| 40-59 |
8.3 (5.9, 11.4) |
91.7 (88.6, 94.1) |
0.2 (0.0, 0.9) |
16.2 (11.5, 22.4) |
83.6 (77.5, 88.3) |
| >=60 |
7.3 (6.1, 8.7) |
92.7 (91.3, 93.9) |
0.5 (0.2, 1.1) |
13.7 (11.3, 16.4) |
85.9 (83.2, 88.2) |
| Non-Hispanic Black |
12-19 |
27.6 (23.2, 32.5) |
72.4 (67.5, 76.8) |
8.5 (5.8, 12.4) |
38.2 (32.7, 44.1) |
53.3 (46.2, 60.2) |
| 20-39 |
26.0 (23.4, 28.9) |
74.0 (71.1, 76.6) |
6.3 (4.1, 9.7) |
39.4 (35.7, 43.3) |
54.3 (50.4, 58.1) |
| 40-59 |
25.0 (21.8, 28.6) |
75.0 (71.4, 78.2) |
6.2 (4.4, 8.6) |
37.7 (32.4, 43.4) |
56.1 (50.2, 61.8) |
| >=60 |
24.6 (20.9, 28.7) |
75.4 (71.3, 79.1) |
6.7 (4.7, 9.6) |
35.7 (29.4, 42.6) |
57.5 (50.6, 64.2) |
| Mexican American |
12-19 |
8.1 (6.1, 10.5) |
91.9 (89.5, 93.9) |
0.1 (0.0, 0.7) |
15.9 (12.0, 20.8) |
84.0 (79.1, 87.9) |
| 20-39 |
5.9 (5.2, 6.7) |
94.1 (93.3, 94.8) |
0.5 (0.2, 1.3) |
10.8 (9.2, 12.6) |
88.7 (87.1, 90.1) |
| 40-59 |
5.5 (4.2, 7.3) |
94.5 (92.7, 95.8) |
0.4 (0.1, 3.2) |
10.3 (7.9, 13.2) |
89.3 (86.2, 91.8) |
| >=60 |
6.5 (4.7, 9.0) |
93.5 (91.0, 95.3) |
0.0 (NA) |
13.0 (9.3, 18.0) |
87.0 (82.0, 90.7) |
By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| 844ins68 |
|
|
I |
W |
II |
IW |
WW |
| Non-Hispanic White |
Male |
8.0 (6.5, 9.7) |
92.0 (90.3, 93.5) |
0.5 (0.2, 1.2) |
14.9 (12.3, 18.1) |
84.6 (81.3, 87.3) |
| Female |
8.2 (7.1, 9.6) |
91.8 (90.4, 92.9) |
0.4 (0.2, 0.9) |
15.6 (13.3, 18.2) |
84.0 (81.3, 86.3) |
| Non-Hispanic Black |
Male |
26.3 (23.1, 29.9) |
73.7 (70.1, 76.9) |
6.5 (4.6, 8.9) |
39.8 (35.1, 44.7) |
53.8 (48.3, 59.2) |
| Female |
25.5 (23.6, 27.4) |
74.5 (72.6, 76.4) |
7.0 (5.6, 8.7) |
37.0 (34.4, 39.7) |
56.0 (53.1, 58.9) |
| Mexican American |
Male |
6.1 (5.4, 6.9) |
93.9 (93.1, 94.6) |
0.4 (0.1, 1.2) |
11.5 (10.0, 13.2) |
88.2 (86.6, 89.6) |
| Female |
6.6 (5.2, 8.2) |
93.4 (91.8, 94.8) |
0.4 (0.1, 1.4) |
12.3 (9.5, 15.7) |
87.3 (84.0, 90.0) |
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