Table 3.
Significantly-associated MetS QTNs with functional annotation
Ethnic group | Trait | Gene (distance in basepairs) from refGene | Function (refGene) | CHR | Basepair (hg19) | rsid | Alleles | Functional annotations with thresholdsa | |||
---|---|---|---|---|---|---|---|---|---|---|---|
FATHMM-MLK (noncoding > 0.50) | GWAVA (TSS) > 0.40 | CADD v1.3 (phred-scaled) > 10 | EIGEN > 0 | ||||||||
AA | log(TG) |
FAM89A(120,755) TRIM67(1919) |
Intergenic | 1 | 231,296,755 | rs75219957 | G/C | 0.20 | 0.62 | 4.48 | 0.38 |
AA | log(TG) |
MIR4283-1(273,158) ZNF722P(104,479) |
Intergenic | 7 | 63,354,705 | rs73123056 | A/C | 0.97 | 0.21 | 3.38 | 0.61 |
EA | log(TG) | GCKR | Exonic-NSVb | 2 | 27,730,940 | rs1260326 | T/C | 0.02c | 0.20 | 0.11 | 0.29 |
EA | Weight |
GLI2(86,646) TFCP2L1(137,289) |
Intergenic | 2 | 121,836,875 | rs139940998 | A/G | 0.63 | 0.46 | 19.05 | 0.69 |
JA | Weight | QRFPR | Intronic | 4 | 122,258,149 | rs2302308d | G/T | 0.12 | 0.34 | 3.83 | 0.02 |
JA | Weight | QRFPR | Intronic | 4 | 122,260,042 | rs17051338 | G/T | 0.23 | 0.31 | 7.28 | 0.33 |
JA | Weight | QRFPR | Intronic | 4 | 122,264,692 | rs77438622 | G/C | 0.12 | 0.21 | 6.40 | 0.09 |
JA | Weight | QRFPR | Intronic | 4 | 122,270,900 | rs77006299 | C/A | 0.21 | 0.22 | 1.33 | 0.03 |
JA | Waist | STIM1 | Intronic | 11 | 3,972,232 | rs146792726 | A/G | 0.14 | 0.12 | 4.48 | 0.08 |
JA | Waist | STIM1 | Intronic | 11 | 4,063,916 | rs147605117 | G/C | 0.15 | 0.17 | 10.86 | 0.28 |
MA | Glucose |
NR3C2(195,478) LOC105377480(300,770) |
Intergenic | 4 | 149,561,328 | rs76209611 | G/T | 0.18 | 0.2 | 6.35 | 0.08 |
AA African Americans, EA, European Americans, JA, Japanese Americans, MA, Mexican Americans
aBolded scores beyond recommended thresholds indicate QTNs with a deleterious or functional role
bExonic, nonsynonymous variant
cFATHMM-MLK coding score shown
dRegSNPs-intron probability of disease-causing was 0.79 and only annotated for variant rs2302308