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Table 3 Haplotype associations with risks of spina bifida

From: 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

Haplotype Block

Frequency

Odds Ratio (95% CI)

TYMS

  

CGC

0.500

REF

TAT

0.373

0.7 (0.6–0.9)

TAC

0.115

0.5 (0.3–0.7)

MTRR

  

ATTAGCAACAC

0.264

REF

ACTGGCAGTGT

0.213

1.4 (1.0–1.9)

ACTAGCAACGC

0.201

0.8 (0.6–1.1)

GCTAGCGGCGC

0.162

1.1 (0.7–1.5)

ACAAAGAGCGC

0.055

1.1 (0.7–1.9)

ACTAGCAGCGC

0.034

0.6 (0.3–1.3)

ACTAAGAGCGC

0.027

1.2 (0.6–2.6)

ACTGGCAGCGT

0.011

1.4 (0.5–4.1)

MTHFR*

  

GGG

0.656

REF

AGA

0.163

0.9 (0.6–1.2)

AGG

0.121

0.9 (0.6–1.2)

AAA

0.057

0.6 (0.3–1.0)

MTHFR**

  

TCCCA

0.368

REF

CCCCA

0.231

0.7 (0.5–0.9)

CTCTG

0.180

0.8 (0.6–1.1)

CTTCG

0.099

0.6 (0.4–0.9)

CTCCG

0.063

0.7 (0.5–1.2)

CTCCA

0.037

1.0 (0.5–1.8)

CBS

  

CG

0.889

REF

TC

0.055

1.2 (0.7–1.9)

CC

0.053

0.6 (0.3–1.0)

RFC1*

  

CG

0.856

REF

GG

0.079

1.1 (0.7–1.7)

GA

0.063

1.0 (0.6–1.6)

RFC1**

  

TG

0.486

REF

GA

0.463

0.9 (0.7–1.2)

GG

0.046

0.6 (0.3–1.0)

MTHFD1*

  

CT

0.486

REF

TC

0.429

1.3 (1.0–1.6)

CC

0.080

0.9 (0.6–1.4)

MTHFD1**

  

GT

0.825

REF

AA

0.167

0.9 (0.6–1.2)

FOLR2

  

TA

0.549

REF

AG

0.356

1.0 (0.8–1.3)

AA

0.093

1.0 (0.7–1.6)

MTHFD2*

  

TA

0.589

REF

CA

0.321

1.1 (0.9–1.4)

CG

0.089

1.1 (0.7–1.6)

MTHFD2**

  

TC

0.388

REF

TT

0.332

1.2 (0.9–1.5)

AT

0.276

1.0 (0.8–1.4)

BHMT2

  

GGGTCA

0.466

REF

TAACTC

0.219

1.0 (0.7–1.3)

GAGCTC

0.171

1.1 (0.8–1.6)

GAGTCA

0.091

1.0 (0.6–1.5)

GGGTCC

0.022

0.7 (0.3–1.7)

BHMT*

  

CAA

0.339

REF

TGA

0.326

0.7 (0.5–0.9)

CGT

0.172

0.7 (0.5–1.0)

CGA

0.158

0.9 (0.6–1.2)

BHMT**

  

AC

0.501

REF

CT

0.373

0.8 (0.7–1.1)

AT

0.120

0.9 (0.6–1.3)

DHFR

  

CTTACCA

0.402

REF

CTTACCG

0.390

0.9 (0.7–1.2)

ACCGAAA

0.201

0.9 (0.7–1.3)

MTR

  

AATCTTTCCTAGAGGGCTTGG

0.373

REF

GTGGCCCTGGGAAGAAGAGAT

0.262

1.0 (0.7–1.3)

GTGGCCCTCTAGGTGACTTGG

0.190

0.9 (0.7–1.3)

GTGGCCCTGGGGAGAAGAGAT

0.045

1.4 (0.8–2.5)

GTGGCCTTCTAGATGACTTGT

0.040

0.6 (0.3–1.2)

GTGGCCCTCGAAAGGAGTTGT

0.032

0.3 (0.1–0.6)

  1. TYMSincluded rs1001761, rs2847149 and, rs2853532; MTRRincluded rs326120, rs1532268, rs2303080, rs162036, rs2287779, rs16879334, rs162048, rs3776455, rs10380
  2. rs1802059, and rs9332; MTHFR* included rs1889292, rs2274976, and rs1476413; MTHFR** included rs1801133, rs4846052, rs2066470, rs3737964, and rs535107; CBSincluded rs12613 and rs 1051319; RFC1* included rs10483080 and rs12483377; RFC1** included rs3788189 and rs3788190; MTHFD1* included rs2236224 and rs1256142; MTHFD1** included rs1256146 and hcv11462908; FOLR2included rs651646 and rs514933; MTHFD2* included rs11126426 and rs1667599; MTHFD2** included rs828858 and rs1667627; BHMT2included rs670220, rs592052, rs626105, rs682985, rs597560, and rs645112; BHMT* included rs567754, rs3733890, and rs585800; BHMT** included rs617219 and rs1915706; DHFRincluded rs2618372, rs1643638, rs1643650, rs13161245, rs836821, rs1478834, and rs380691; MTRincluded rs4659724, rs955516, rs4077829, rs12060570, rs1806505, rs6668344, rs3754255, rs10925252, rs3768139, rs3768142, rs1770449, rs7367859, rs1805087, rs2275565, rs1266164, rs2229276, rs10802569, rs4659743, rs3820571, rs1050993, and rs6676866.
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BMC Medical Genetics

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