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. Author manuscript; available in PMC: 2012 Jun 13.
Published in final edited form as: Hum Genet. 2011 Nov 25;131(5):739–746. doi: 10.1007/s00439-011-1117-3

Table 3.

Single nucleotide polymorphisms associated with omphalocele based on logistic regression analyses stratified by race/ethnicity.

Race/Ethnicity Gene SNP Description Allelesa Control Genotypesb Case Genotypesb Adjusted odds ratio (95% Confidence Interval)c
Heterozygous Homozygous for minor allele
African-American MTHFR rs1801131 c.1298A>C A/C 148/44/2 32/12/3 1.34 (0.63, 2.83) 6.44 (1.03, 40.41)
BHMT rs3733890 p.R239Q G/A 138/52/5 23/18/4 2.05 (1.02, 4.12) 4.62 (1.15, 18.52)
TCblR rs173665 C>T (3′ near gene) G/A 142/52/1 31/11/3 0.98 (0.46, 2.10) 13.27 (1.33, 132.35)
TCblR rs2232775 p.Q8R A/G 69/94/32 12/18/15 1.09 (0.49, 2.42) 2.74 (1.14, 6.57)
TCN2 rs9606756 p.I23V A/G 146/40/9 24/20/2 2.92 (1.46, 5.83) 1.40 (0.28, 6.90)
TCN2 rs9621049 p.S348F C/T 147/42/6 26/18/1 2.38 (1.19, 4.77) 0.96 (0.11, 8.30)
Asian MTHFR rs1801131 c.1298A>C A/C 20/13/3 1/6/1 13.54 (1.22, 150.88) 4.62 (0.20, 106.66)
BHMT rs3733890 p.R239Q G/A 21/13/2 1/6/1 14.30 (1.34, 152.78) 18.25 (0.56, 591.86)
a

Major allele is listed first

b

Genotype values are numbers of individuals in the race/ethnic group with homozygous major allele/heterozygous/homozygous minor allele

c

Homozygous for major allele was reference category; adjustment for maternal education and in vitro fertilization/assisted reproductive technique