|
Association analysis in the extended T1D family set. |
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| Gene Polymorphism |
Allele 1/2c |
Affected offspring |
Allele 1, Transmitted (%) |
Allele 1, Non-transmitted (%) |
P-value TDT |
Allele 1, frequency d |
|
|
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| PAPD1 |
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| Rs639299a |
G/A |
2029 |
777 (48.2) |
834 (51.8) |
0.16 |
0.69 |
| rs1963187a |
A/T |
2383 |
272 (56.1) |
213 (43.9) |
0.0074 |
0.95 |
| rs2480285a |
G/A |
2642 |
785 (46.3) |
909 (53.7) |
0.0026 |
0.21 |
| D10S1426a |
1401 |
0.21 |
||||
| *158 |
502 (52.7) |
450 (47.3) |
0.092 |
0.27 |
||
| *162 |
502 (48.4) |
535 (51.6) |
0.31 |
0.33 |
||
| *166 |
420 (52.3) |
383 (47.7) |
0.19 |
0.23 |
||
| D10S193a |
1932 |
0.037 |
||||
| *220 |
587 (46.6) |
673 (53.4) |
0.015 |
0.28 |
||
| *224 |
781 (52.2) |
716 (47.8) |
0.093 |
0.35 |
||
| *226 |
363 (55.1) |
296 (44.9) |
0.0091 |
0.11 |
||
| *228 |
185 (47.8) |
202 (52.2) |
0.39 |
0.07 |
||
| rs540994 b |
A/C |
2096 |
941 (51.4) |
889 (48.6) |
0.22 |
0.45 |
| ss48399034b |
A/T |
2124 |
178 (58.4) |
127 (41.6) |
0.0035 |
0.96 |
| rs1047991b |
G/A |
2382 |
849 (48.1) |
916 (51.9) |
0.11 |
0.73 |
| rs11818836b |
A/G |
2087 |
958 (52.2) |
876 (47.8) |
0.056 |
0.45 |
| ss48399025b |
A/C |
2284 |
388 (54.0) |
330 (46.0) |
0.030 |
0.90 |
| ss48399036b |
A/G |
3207 |
137 (55.0) |
112 (45.0) |
0.11 |
0.02 |
| ss48399044b |
T/A |
2061 |
461 (46.6) |
529 (53.4) |
0.031 |
0.83 |
| NRP1 |
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| rs13324a |
A/G |
2134 |
826 (50.6) |
806 (49.4) |
0.62 |
0.30 |
| rs1048804a |
A/G |
2047 |
661 (47.7) |
725 (52.3) |
0.086 |
0.75 |
| rs1010826a |
A/G |
2125 |
737 (51.9) |
683 (48.1) |
0.15 |
0.24 |
| MYO3A |
||||||
| rs1339816 a |
A/G |
2107 |
820 (47.7) |
898 (52.3) |
0.060 |
0.35 |
| rs2096176 a |
A/G |
2116 |
893 (47.6) |
984 (52.4) |
0.036 |
0.42 |
| HNRPF |
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| rs1416226a |
A/G |
2090 |
728 (53.5) |
632 (46.5) |
0.0092 |
0.23 |
| SVIL |
||||||
| rs2274494a |
A/G |
2152 |
894 (47.5) |
987 (52.5) |
0.032 |
0.37 |
| rs11600a |
A/G |
2147 |
432 (47.5) |
477 (52.5) |
0.14 |
0.13 |
| Intergenic |
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| rs787025 a |
A/C |
2038 |
237 (45.6) |
283 (54.4) |
0.044 |
0.06 |
| BMS1L |
||||||
| rs787795a |
A/G |
2102 |
537 (53.4) |
469 (46.6) |
0.032 |
0.86 |
|
a – polymorphism genotyped in the initial scan, b – polymorphisms genotyped after being identified by resequencing of the PAPD1-MAP3K8 gene region, c – alleles encoded as 1and 2 for SNPs or as size of an allele for STRs, d – allele frequency among parents of T1D patients from the UK is shown; TDT – transmission disequilibrium test | ||||||
Nejentsev et al. BMC Genetics 2007 8:24 doi:10.1186/1471-2156-8-24 |
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