Table 3. Significant associations between non-synonymous variants and T2D-related metabolites in KARE cohort (P<2.05 × 10−7)*.
Metabolites§ | SNP | Gene | Chr | Location | Alleles† | Amino acid change | MAF | β | P-value | Predicted functional effects | |
---|---|---|---|---|---|---|---|---|---|---|---|
SIFT | Polyphen | ||||||||||
Glycine | rs1047883 | CPS1 | 2 | 211456637 | G/A | Ala350Thr | 0.470 | −0.155 | 2.13E-08 | Tolerated | Benign |
PC ae C36:0 | rs2108622 | CYP4F2 | 19 | 15990431 | G/A | Val433Met | 0.325 | 0.213 | 8.19E-13 | Deleterious | Probably damaging |
Threshold for significance has been adjusted for Bonferroni correction (P<0.05/[number of SNPs × number of T2D-related metabolites]).
The allele of each non-synonymous variant is indicated as ‘major allele/minor allele’.
PC ae C36:0, phosphatidylcholine acyl-alkyl C36:0.