Table 2.
Minor allele frequencies of the detected SNPs and mutations in SH2B1 excluding the screening group
| Genotypes cases | Genotypes controls | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Position |
rs-Number |
Amino acid exchange |
11 |
12 |
22 |
Minor allele frequency cases [%] |
11 |
12 |
22 |
Minor allele frequency controls [%] |
Odds Ratiod |
95% Confidence Interval |
Nominal p-value |
| g.2749C/A |
rs147094247 |
Thr175Asp |
11, 257 |
11 |
0 |
0.05 |
4,511 |
1 |
0 |
0.01 |
4.4 |
0.57 - 34.13 |
0.199c |
| g.8164A/G |
rs7498665 |
Thr484Ala |
512 |
1,526 |
1,101 |
40.62 |
58 |
195 |
181 |
35.83 |
1.2 |
1.06-1.42 |
0.007a |
| g.8250C/T |
rs60604881 |
|
70 |
87 |
22 |
36.59 |
73 |
75 |
37 |
40.27 |
0.86 |
0.63 - 1.15 |
0.323b |
| g.8738A/G |
rs62037368 |
|
176 |
2 |
0 |
0.56 |
182 |
3 |
0 |
0.81 |
0.69 |
0.11 - 4.16 |
1b |
| g.8764C/T |
rs62037369 |
|
65 |
81 |
32 |
40.73 |
79 |
82 |
23 |
34.78 |
1.29 |
0.95 - 1.74 |
0.107b |
| g.9483C/T |
|
βThr656Ile, γPro674Ser |
11,206 |
2 |
0 |
0.01 |
4,506 |
0 |
0 |
0.00 |
NA |
NA |
1c |
| g.10182C/A | 178 | 1 | 0 | 0.28 | 184 | 0 | 0 | 0.00 | NA | NA | 0.493b | ||
a genotyped in 3,230 obese cases and 439 lean controls.
b genotyped in a total of 179 obese cases and 185 lean controls.
c genotyped in a total of 11,406 obese and overweight cases and 4,568 (mainly population based) controls.
d Odds ratio is given with respect to the minor allele.