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. 2009 Apr 10;84(4):477–482. doi: 10.1016/j.ajhg.2009.02.011

Table 2.

Top SNPs for Vitamin B6, Vitamin B12, Folate, and Homocysteine Concentrations

GWAS Meta-analysis
Replication
Four Cohort Meta-analysisc
Concentrations
Chr
SNP
Position (bp)
Genea
Gene Region
Alleles (+/−)
Freq (+)b
N
Effect
SE
p value
Effect
SE
P value
N
Effect
SE
p value
Vitamin B6 (ng/mL)
1 rs4654748 21531374 ALPL 5′UTR C/T 0.50 1178 −1.38 0.32 1.21 × 10−8 −1.668 0.56 2.08 × 10−11 1864 −1.45 0.28 8.30 × 10−18
Vitamin B12 (pg/mL)
19 rs602662 53898797 FUT2 exon2 A/G 0.53 2927 44.20 8.26 2.43 × 10−12 58.65 10.43 2.19 × 10−10 3613 49.77 6.47 2.83 × 10−20
10 rs11254363 17170699 CUBN intron52 A/G 0.70 2927 −39.16 9.18 7.24 × 10−8 3.62 10.94 0.815 3613 −21.49 7.03 1.11 × 10−6
11 rs526934 59390069 TCN1 intron8 A/G 0.67 2927 36.76 10.35 8.33 × 10−7 12.83 13.24 0.519 3613 27.62 8.15 1.51 × 10−6
Homocysteine (μmol/L)
1 rs1801133d 11790644 MTHFR exon8 A/G 0.47 2965 1.31 0.16 4.36 × 10−13 - - - - - - -
11 rs11041321 7310445 SYT9 intron3 T/C 0.10 2965 −0.97 0.25 2.42 × 10−6 0.30 0.49 0.280 3651 −0.70 0.22 1.11 × 10−4
Folate (ng/mL)
1 rs1999594 11893482 MTHFRd - A/G 0.34 2931 0.30 0.07 1.12 × 10−7 - - - - - - -
3 rs153734 64053049 PRICKLE2 3′UTR T/C 0.84 2931 0.35 0.08 1.01 × 10−6 −0.01 0.19 0.913 3617 0.29 0.08 7.20 × 10−6
a

Genes positioned ± 50 kb of the SNP (based on NCBI build 35).

b

Frequency is averaged across the three GWAS studies.

c

Analysis of vitamin B6 is from the InCHIANTI and replication study only.

d

rs1999594 is within 100 kb of MTHFR, r2 = 0.2 with rs1801133.