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Table 2 Family-based replication analyses in the combined United Kingdom NTD cohort

From: Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects

Gene SNP

Test/Model*

Result in Irish NTD Cohort [[45]]

Result in UK Cohort

GRR [95% CI], p-value

GRR [95% CI], p-value

ADA rs452159

LL Case Dom

2.28 [1.29-4.05], p = 0.0047

1.86 [1.01-3.40], p = 0.045

CDKN2A rs3218009

LL Mat Dom

2.32 [1.45-3.71], p = 0.0004

1.16 [0.81-1.65], p = 0.418

COMT rs174675

LL Case Dom

0.41 [0.23-0.73], p = 0.0028

0.89 [0.55-1.43], p = 0.621

CUBN rs11254375

LL Mat Dom

1.48 [1.10-1.99], p = 0.0097

1.22 [0.89-1.66], p = 0.210

DNMT3A rs7560488

LL Case Rec

2.10 [1.31-3.38], p = 0.0021

0.89 [0.61-1.28], p = 0.520

DNMT3B rs6058896

TDT

1.88 [1.24-2.85], p = 0.0029

1.18 [0.77-1.82], p = 0.443

FOLH1 rs16906205**

LL Mat Dom

0.43 [0.23-0.78], p = 0.0060

1.10 [0.75-1.63], p = 0.619

GART rs2070388

TDT

0.53 [0.36-0.78], p = 0.0012

0.73 [0.52-1.03], p = 0.070

GNMT rs9462856

LL Case Dom

0.55 [0.36-0.83], p = 0.0048

1.19 [0.85-1.68], p = 0.308

MAT2B rs17535909

LL Case Rec

1.69 [1.18-2.42], p = 0.0045

Failed genotyping

MTHFD1 rs11627525

LL Mat Rec

2.17 [1.24-3.79], p = 0.0067

1.13 [0.76-1.68], p = 0.545

MTHFD1 rs2236225

LL Case Dom

1.66 [1.16-2.37], p = 0.0054

1.21 [0.84-1.74], p = 0.299

MTR rs10925260

LL Case Rec

0.64 [0.48-0.86], p = 0.0031

0.71 [0.53-0.94], p = 0.019

PEMT rs4646402

LL Case Dom

0.600 [0.46-0.8], p = 0.0005

0.92 [0.70-1.23], p = 0.585

PEMT rs16961845

LL Mat Rec

1.92 [1.18-3.11], p = 0.0082

0.73 [0.46-1.15], p = 0.171

  1. *LL; = log-linear analysis; TDT = transmission disequilibium test; Case = case effect; Mat = maternal effect; genetic models: Dom (dominant) and Rec (recessive).
  2. **Proxy SNP (FOLH1 rs11040291; r2 = 1 in Hapmap CEU) results shown for replication.