Skip to main content

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.