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Table 2 Effect estimates (odds ratios) for spina bifida-affected pregnancies associated with CHKA SNPs hCV1562388 (A>C) and hCV1562393(C>G), PCYT1A SNPs rs939883 (T>A) and rs3772109 (T>C), California 1989–1991. OR: odds ratio; aOR: adjusted odds ratio by maternal ethnicity; CI: confidence interval.

From: CHKA and PCYT1Agene polymorphisms, choline intake and spina bifida risk in a California population

CHKA gene

Cases (%)

Controls (%)

OR (95% CI)

aOR (95% CI)

SNP hCV1562388 (A>C)

AA

54 (54.0)

138 (41.2)

Reference

-

AC

38 (38.0)

154 (46.0)

0.63 (0.39–1.01)

0.62 (0.39–1.00)

CC

8 (8.0)

43 (12.8)

0.48 (0.21–1.08)

0.48 (0.21–1.10)

AC+CC

46 (46.0)

197 (58.8)

0.60 (0.38–0.94)

0.55(0.38–0.99)

SNP hCV1562393(C>G)

CC

66 (67.3)

225 (67.6)

Reference

-

CG+GG

32 (32.6)

108 (32.4)

0.99 (0.61–1.62)

1.01 (0.62–1.66)

PCYT1A gene

Cases (%)

Controls (%)

OR (95% CI)

aOR (95% CI)

SNP rs939883 (T>A)

TT

35 (34.3)

132 (39.9)

Reference

-

TA

48 (47.1)

161 (48.6)

1.12 (0.69–1.84)

1.14 (0.70–1.87)

AA

19 (18.6)

38 (11.5)

1.89(0.97–3.67)

1.85 (0.95–3.61)

SNP rs3772109 (T>C)

TT

33 (33.7)

104 (31.2)

Reference

-

TC

51 (52.0)

164 (49.2)

0.98 (0.59–1.62)

0.99 (0.60–1.65)

CC

14 (14.3)

65 (19.5)

0.68 (0.34–1.36)

0.69 (0.34–1.41)