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. 2012 Sep 12;21(5):563–566. doi: 10.1038/ejhg.2012.207

Table 2. Genotype frequencies of two significant polymorphisms close to the LDLR gene in the Rotterdam study, in the whole ARGOS and within ARGOS in carriers of the same LDLR mutation.

  rs3745264     rs2304240    
 
 AA
 AC
 CC
 P-value
 Minor allele
 AA
 AG
 GG
 P-value
 Minor allele
The Rotterdam study 131 (2.2) 1506 (25.4) 4283 (72.3)   A 143 (2.4) 1619 (27.4) 4154 (70.2)   A
ARGOS 22 (4.7) 193 (41.6) 249 (53.7) 6.00 × 10−17 A 37 (0.8) 228 (49.5) 196 (42.2) 2.21 × 10−35 A
                     
Carriers mutation
 191-2 6 (18.8) 26 (81.3) 0 (0.0) <1.00 × 10−6 C 6 (18.8) 26 (81.3) 0 (0.0) <1.00 × 10−6 A
 W23X 4 (13.8) 10 (34.5) 15 (51.7) 5.30 × 10−5 A 4 (13.8) 9 (31.0) 16 (55.2) 3.07 × 10−4 A
 313+½ 5 (9.1) 44 (80.0) 6 (10.9) <1.00 × 10−6 A 6 (10.9) 43 (78.2) 6 (10.9) <1.00 × 10−6 A
 E207K 0 (0.0) 5 (17.9) 23 (82.1) 0.45 A 0 (0.0) 4 (14.3) 24 (85.7) 0.19 G
 S285L 0 (0.0) 19 (95.0) 0 (0.0) <1.00 × 10−6 C 3 (15.0) 17 (85.0) 0 (0.0) <1.00 × 10−6 A
 G322S 2 (16.7) 9 (75.0) 1 (8.3) <1.00 × 10−6 C 0 (0.0) 3 (27.3) 8 (72.7) 0.87 G
 R329X 0 (0.0) 0 (0.0) 7 (100.0) 0.263 A 0 (0.0) 0 (0.0) 7 (100.0) 0.23 G
 Cape Town-2 2 (9.5) 19 (90.5) 0 (0.0) <1.00 × 10−6 C 4 (19.0) 17 (81.0) 0 (0.0) <1.00 × 10−6 A
 1359-1 0 (0.0) 12 (17.9) 55 (82.1) 0.15 A 11 (16.4) 49 (73.1) 7 (10.4) <1.00 × 10−6 A
 L401P 0 (0.0) 2 (25.0) 6 (75.0) 0.91 A 1 (12.5) 3 (37.5) 4 (50.0) 0.13 A
 V408M 0 (0.0) 2 (15.4) 11 (84.6) 0.59 A 0 (0.0) 3 (23.1) 10 (76.9) 0.79 G
 L590F 0 (0.0) 0 (0.0) 8 (100.0) 0.22 A 0 (0.0) 8 (100.0) 0 (0.0) 2.50 × 10−5 A
 P664L 0 (0.0) 1 (12.5) 7 (87.5) 0.62 A 0 (0.0) 0 (0.0) 8 (100.0) 0.18 G
 P678L 0 (0.0) 2 (40.0) 3 (60.0) 0.73 A 0 (0.0) 2 (40.0) 3 (60.0) 0.78 G

Values are counts (%). P-values are result of χ2 test with The Rotterdam study as reference group.