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Table 3 Dominant and recessive model analysis of the allelic frequencies of SNPs in this study

From: Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population

SNP (Gene) Model Genotype Cases Controls OR (CI) P-value
rs1017
(g.16138A > T)
(ISL1)
Dominant T/T 37 (36.6%) 71 (71%) 0.21 (0.11–0.39)  < 0.0001
A/T-A/A 64 (63.4%) 29 (29%) 1.00
Recessive T/T-A/T 48 (47.5%) 79 (79%) 0.24 (0.13–0.43)  < 0.0001
A/A 53 (52.5%) 21 (21%) 1.00
Alleles T 85 (0.42) 150 (0.75) 0.242 (0.158–0.37)  < 0.0001
A 117 (0.58) 50 (0.25)
rs7240256 (g.23449 T > C)
(NFATc1)
Dominant T/T 18 (17.8%) 55 (55%) 1.00  < 0.0001
T/C–C/C 83 (82.2%) 45 (45%) 0.18 (0.09–0.34)
Recessive T/T-T/C 97 (96%) 99 (99%) 1.00 0.16
C/C 4 (4%) 1 (1%) 0.24 (0.03–2.23)
Alleles T 115(0.57) 154(0.77) 2.53(1.64–3.89)  < 0.0001
C 87 (0.43) 46(0.23)
rs36208048 (g.3877C > A)
(VEGF)
Dominant C/C 69 (68.3%) 67 (67%) 1.00 0.84
C/A 32 (31.7%) 33 (33%) 1.06 (0.59–1.92)
Alleles C 170 (0.84) 167 (0.84) 0.952(0.56–1.62) 0.8577
A 32 (0.16) 33 (0.16)
rs11067075 (g.51682G > T)
(TBX5)
Dominant G/G 21 (20.8%) 56 (56%) 1.00  < 0.0001
G/T-T/T 80 (79.2%) 44 (44%) 0.21 (0.11–0.38)
Recessive G/G-G/T 92 (91.1%) 92 (92%) 1.00 0.82
T/T 9 (8.9%) 8 (8%) 0.89 (0.33–2.40)
Alleles G 113(0.56) 148(0.74) 2.24(1.47–3.41) 0.0002
T 89(0.44) 52(0.26)
rs1801133 (g.14783C > T)
(MTHFR)
Dominant C/C 25 (24.8%) 88 (88%) 1.00  < 0.0001
C/T-T/T 76 (75.2%) 12 (12%) 0.04 (0.02–0.10)
Recessive C/C–C/T 88 (87.1%) 98 (98%) 1.00 0.002
T/T 13 (12.9%) 2 (2%) 0.14 (0.03–0.63)
Alleles C 113 (0.56) 186(0.93) 10.46(5.68–19.26)  < 0.0001
T 89 (0.44) 14(0.07)