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Table 1 Allele and genotype frequencies of the selected SNPs in the study cohort

From: First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD)

SNP (Gene)

Model

Genotype

Cases

Controls

OR (CI), p-value

rs1532268 (c.524C > T)

(MTRR)

Dominant

CT + TT

CC

86

35

75

46

0.25 (0.15–0.43), 2.4 × 10−7

Recessive

TT

CT + CC

14

107

3

118

5.15 (1.44–18.40), 0.005

Alleles

T

C

0.41

0.59

0.2

0.8

5.73 (3.82–8.61), 5.11 × 10−7

rs104894073 (c.886G > A)

(GATA4)

Dominant

GA + AA GG

84

37

85

36

0.19 (0.11–0.32), 6.7 × 10−10

Recessive

AA

GA + GG

6

115

2

119

3.0 (0.61–15.70), 0.15

Alleles

A

G

0.37

0.63

0.16

0.84

3.08 (2.00–4.74), 8.36 × 10− 8

rs699947 (c.-2578C > A)

(VEGF)

Dominant

CA + AA CC

103

18

71

50

0.25 (0.13–0.46), 4.7 × 10− 6

Recessive

CA + CC AA

95

26

105

16

1.80 (0.90–3.55), 0.089

Alleles

A

C

0.53

0.47

0.36

0.64

2.03 (1.41–2.92), 0.0001

rs6867206 (g.51356860 T > C)

(ISL1)

Dominant

TC + CC TT

74

47

64

57

0.71 (0.43–1.19), 0.194

Recessive

TC + TT CC

121

0

121

0

Alleles

C

T

0.31

0.69

0.26

0.74

0.27 (0.85–1.89), 0.227