Sequence variant | Gene location | Codon | Effect | % patients | % controls | Reference |
---|---|---|---|---|---|---|
-71C>G | Promoter | Â | Unknown | 1/13 (7.7%) | 2/51 (3.9%) | Avizienyte et al, 2000 [87] |
-160C>A | Promoter | Â | See text | 17/32 (53.1%) | 63/114 (55.3%) | Oliveira et al, 2002 [32] |
 |  |  |  | 2/5 (40%) | 38/94 (40.4%) | Humar et al, 2002 [89] |
 |  |  |  | 7/28 (25%) | 32/142 (22.5%) | Shin et al, 2004 [39] |
 |  |  |  | 31/87 (35.6%) | 18/50 (36%) | Wang et al, 2003 [27] |
-347G>GA | Promoter | Â | See text | 12/28 (42.9%) | 39/142 (27.5%) | Shin et al, 2004 [39] |
48+6T>C | Intron 1 | Â | Unknown | 5/13 (38%) | 18/51 (35%) | Avizienyte et al, 2000 [87] |
 |  |  |  | 11/28 (39.3%) | 27/100 (27%) | Oliveira et al, 2002 [32] |
 |  |  |  | 1/10 (10%) | 75/350 (21.4%) | Humar et al, 2002 [89] |
 |  |  |  | 5/17 (29.4%) | nd | Yabuta et al, 2002 [26] |
531+10G>C | Intron 4 | Â | Unknown | 2/34 (5.9%) | nd | Oliveira et al, 2002 [32] |
 |  |  |  | ns | nd | Guilford et al, 1999 [12] |
 |  |  |  | ns | nd | Gayther et al, 1998 [10] |
532-18C>T | Intron 4 | Â | Unknown | 2/66 (3.0%) | 0/100 (0%) | Suriano and Oliveira et al, 2003 [33] |
 |  |  |  | 2/34 (5.9%) | 1/50 (2.0%) | Keller et al, 2004 [29] |
918C>T | Exon 7 | 306 | Silent | 1/34 (2.9%) | nd | Oliveira et al, 2002 [32] |
1029C>G | Exon 8 | 343 | Silent | 1/34 (2.9%) | nd | Oliveira et al, 2002 [32] |
1774G>A | Exon 12 | 592 | A592T | 1/34 (2.9%) | 1/50 (2.0%) | Keller et al, 2004 [29] |
1849G>A | Exon 12 | 617 | A617T | 2/66 (3%) | 2/193 (1%) | Suriano and Oliveira et al, 2004 [33] |
1896C>T | Exon 12 | 632 | Silent | 1/34 (2.9%) | 5/100 (5%) | Oliveira et al, 2002 [32] |
 |  |  |  | ns | nd | Gayther et al, 1998 [10] |
1937-13T>C | Intron 12 | Â | Unknown | 2/27 (7.4%) | 25/100 (25%) | Oliveira et al, 2002 [32] |
 |  |  |  | ns | nd | |
1937-27T>G | Intron 12 | Â | Unknown | ns | nd | Guilford et al, 1999 [12] |
2076C>T | Exon 13 | 692 | Silent | 8/13 (61.5%) | nd | Avizienyte et al, 2000 [87] |
 |  |  |  | 15/27 (55.6%) | 29/100 (59.0%) | Oliveira et al, 2002 [32] |
 |  |  |  | 1/5 (20%) | nd | Richards et al, 1999 [11] |
 |  |  |  | 7/16 (43.8%) | nd | Iida et al, 1999 [86] |
 |  |  |  | ns | nd | |
 |  |  |  | ns | nd | Gayther et al, 1998 [10] |
 |  |  |  | ns | ns | Yabuta et al, 2002 [26] |
 |  |  |  | 82/87 (94.3%) | 48/50 (96%) | Wang et al, 2003 [27] |
2253C>T | Exon 14 | 751 | Silent | ns | ns | Yabuta et al, 2002 [26] |
2292C>T | Exon 14 | 764 | Silent | 1/34 (2.9%) | nd | Oliveira et al, 2002 [32] |
2634C>T | Exon 16 | 878 | Silent | 1/34 (2.9%) | nd | Oliveira et al, 2002 [32] |