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Table 2 Maternal MTHFR genotype frequencies and P values of HWE test

From: Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring

SNPs

Chromosome

Major allele

Minor allele

MAF

group

Genotype frequencies†

HWE test P

AA

AB

BB

rs2274976

1:11790870

C

T

0.1183

Control

505 (77.5%)

136 (20.9%)

11 (1.7%)

0.5995

     

Case

448 (78.7%)

111 (19.5%)

10 (1.8%)

 

rs1801133

1:11796321

G

A

0.3141

Control

308 (47.2%)

289 (44.3%)

55 (8.4%)

0.2651

     

Case

245 (43.1%)

280 (49.2%)

44 (7.7%)

 

rs535107

1:11829411

A

G

0.2404

Control

402 (61.7%)

216 (33.1%)

34 (5.2%)

0.4798

     

Case

314 (55.2%)

207 (36.4%)

48 (8.4%)

 

rs4846052

1:11797894

C

T

0.1057

Control

567 (87.0%)

79 (12.1%)

6 (0.9%)

0.0884

     

Case

437 (76.8%)

97 (17.0%)

35 (6.2%)

 

rs1476413

1:11792243

C

T

0.2391

Control

399 (61.2%)

217 (33.3%)

36 (5.5%)

0.3668

     

Case

330 (58.0%)

183 (32.2%)

56 (9.8%)

 

rs4846048

1:11786195

A

G

0.1212

Control

522 (80.1%)

119 (18.3%)

11 (1.7%)

0.1703

     

Case

433 (76.1%)

117 (20.6%)

19 (3.3%)

 

rs4846051

1:11794400

A

G

0.0020

Control

649 (99.5%)

3 (0.5%)

0

0.9530

     

Case

567 (99.6%)

2 (0.4%)

0

 

rs1931226

1:11803917

C

T

0.0012

Control

649 (99.5%)

3 (0.5%)

0

0.9530

     

Case

569 (100.0%)

0

0

 

rs2066470

1:11803000

G

A

0.1167

Control

517 (79.3%)

126 (19.3%)

9 (1.4%)

0.0606

     

Case

443 (77.9%)

111 (19.5%)

15 (2.6%)

 

rs3737964

1:11806987

C

T

0.1200

Control

523 (80.2%)

118 (18.1%)

11 (1.7%)

0.1544

     

Case

430 (75.6%)

125 (22.0%)

14 (2.5%)

 

rs7525338

1:11802275

C

T

0.0020

Control

649 (99.5%)

3 (0.5%)

0

0.9530

     

Case

567 (99.6%)

2 (0.4%)

0

 

rs1801131

1:11794419

T

G

0.2138

Control

448 (68.7%)

188 (28.8%)

16 (2.5%)

0.4750

     

Case

323 (56.8%)

190 (33.4%)

56 (9.8%)

 

rs1889292

1:11780886

C

T

0.2445

Control

377 (57.8%)

246 (37.7%)

29 (4.4%)

0.1586

     

Case

318 (55.9%)

209 (36.7%)

42 (7.4%)

 
  1. MTHFR Methylenetetraphydrofolate reductase, SNP single nucleotide polymorphism, HWE Hardy–Weinberg equilibrium, MAF minimum allele frequency
  2. †AA = homozygous wild-type; AB = heterozygous variant type; BB = homozygous variant type