Polymorphisms in Factor V Gene From 167 Normal Subjects and 117 Subjects With Homozygous APC Resistance Based on ASRA
| Exon . | Nucleotide Polymorphism . | Distance From nt 1691 (kb) . | nt G1691 Normals (N = 334) A1 Allele Frequency (range) . | nt A1691 Homozygotes (N = 234) A1 Allele Frequency (range) . | P* . |
|---|---|---|---|---|---|
| 2 | A 327 G | 32.7 | 0.72 (0.55-0.84) | 0.92 (0.88-0.95) | <10−6 |
| 4 | G 495 A | 11.6 | 0.81 (0.73-0.93) | 0.97 (0.92-1.0) | <10−6 |
| 9 | C 1470 T | 0.8 | 0.89 (0.76-0.97) | 1.0 | <10−5 |
| 11 | G 1806 A | 3.2 | 0.89 (0.76-0.97) | 1.0 | <10−5 |
| 13 | C 2298 T | 7.0 | 0.76 (0.65-0.88) | 0.99 (0.98-1.0) | <10−6 |
| 16 | A 5380 G | 20.0 | 0.70 (0.50-0.88) | 0.99 (0.98-1.0) | <10−6 |
| Exon . | Nucleotide Polymorphism . | Distance From nt 1691 (kb) . | nt G1691 Normals (N = 334) A1 Allele Frequency (range) . | nt A1691 Homozygotes (N = 234) A1 Allele Frequency (range) . | P* . |
|---|---|---|---|---|---|
| 2 | A 327 G | 32.7 | 0.72 (0.55-0.84) | 0.92 (0.88-0.95) | <10−6 |
| 4 | G 495 A | 11.6 | 0.81 (0.73-0.93) | 0.97 (0.92-1.0) | <10−6 |
| 9 | C 1470 T | 0.8 | 0.89 (0.76-0.97) | 1.0 | <10−5 |
| 11 | G 1806 A | 3.2 | 0.89 (0.76-0.97) | 1.0 | <10−5 |
| 13 | C 2298 T | 7.0 | 0.76 (0.65-0.88) | 0.99 (0.98-1.0) | <10−6 |
| 16 | A 5380 G | 20.0 | 0.70 (0.50-0.88) | 0.99 (0.98-1.0) | <10−6 |
All polymorphisms are silent except for G5380A in exon 16 that predicts replacement of Val1736 by Met. Nucleotides are numbered according to cDNA numbering of Jenny et al33 and distances from nt 1691 to other nt are based on Cripe et al.31 The A1 allele contained the nucleotide more frequently found in the controls and corresponded to negative (−) genotypes for nt A327 and nt G495 and positive (+) genotypes for nt C1470, nt G1806, nt C2298, and nt A5380. APC-resistant subjects (nt A1691 homozygous; N = 117) were composed of the following subgroups: 30 Jews of various origins, 24 Israeli Arabs, 29 Austrians, 29 French, and 5 miscellaneous Caucasian subjects. Control subjects (nt G1691 homozygous; N = 167) were composed of six groups: 29 Austrians, 21 French, 28 Ashkenazi Jews, 30 North African Jews, 29 Iraqi Jews, and 30 Israeli Arabs.
P value based on χ2 analysis of comparing the observed genotypes of the APC-resistant homozygotes (nt A1691) for the indicated polymorphism to the expected calculated genotypes based on the normal subjects (nt G1691).