Table 3.
Allele frequencies for 10 SNPs of GLUT2 in patients with MM
| CAUC | MEX | CAUC/MEX | |||||
|---|---|---|---|---|---|---|---|
| GLUT2 SNP | A1/A2 | All MM | MM | NHLBI ESP EA/CEU* | MM | 1KGP MXL | p-values |
| rs7356034 | C/T | 23.37% (43/141) | 30.00% (27/63) | 28.24% (48/122)* | 17.02 (16/78) | 31.82% (41/89) | 0.78/0.0138 |
| rs7637863¶ | C/T | 0.5% (1/191) | 0.00% (0/96) | 0.49% (42/8558) | 1.04% (1/95) | 0.00% (0/130) | 1.00/0.24 |
| rs5400§¶ | C/T | 14.29% (22/154) | 17.71% (17/79) | 15.39% (1147/7453) | 6.25% (6/90) | 18.18% (23/107) | 0.226/0.011 |
| rs5402 | A/T | 10.97% (17/155) | 14.58% (14/82) | 11.90% (914/7682) | 4.26% (4/90) | 18.94% (24/106) | 0.241/0.0015 |
| rs5404§ | G/A | 8.75% (14/160) | 11.46% (11/85) | 11.31% (874/7726) | 3.13% (3/93) | 9.85% (13/117) | 0.612/0.065 |
| rs2292621 | G/A | 14.97% (25/167) | 16.67% (16/80) | 12.35% (21/149)* | 7.28% (7/89) | 18.18% (23/107) | 0.359-/0.0227 |
| rs2292622 | T>C | 13.10% (22/168) | 16.67% (16/80) | 12.35% (21/149)* | 7.29% (7/89) | 18.18% (23/107) | 0.359/0.0227 |
| rs5406§ | C>T | 11.70% (22/188) | 18.48% (17/75) | 13.31% (1145/7445) | 5.21% (5/91] | 18.18% (23/107) | 0.164/0.0049 |
| rs76362149 | G/T | 0.56% (1/177) | 1.04% (1/95) | 0.12% (10/8590) | 0.00% (0/96) | 0.00% (0/130) | 0.106/1.00 |
| rs5398§ | C/T | 35.38% (46/130) | 30.85% (29/65) | 42.55% (2567/6033) | 19.79% (19/77) | 32.58% (42/88) | 0.821/0.0448 |
A1, reference allele; A2, variant allele; CEU, Centre d'Etude du Polymorphisme; CAUC, Caucasian American; MEX, Mexican-American; MM, myelomeningocele; ND, no data for reference population; significant p-values using Fisher's exact test (2 tailed) are bolded; SNP, single-nucleotide polymorphism; GLUT2, glucose transporter 2 gene.
CEU population consists of the Utah residents with northern and western European ancestry. The NHLBI ESP EA (National Heart, Lung, and Blood Institute Exome Sequencing Project) European Americans. MXL population consists of Americans of Mexican ancestry living in Los Angeles in the 1000 Genomes Project (1KGP).
NIEHS SNP Function Prediction FuncPred (http://snpinfo.niehs.nih.gov/snpinfo/snpfunc.htm) predicts the SNP is located within a transcription factor binding site or linked to another SNP located within a transcription binding site or splicing enhancer/silencer.
NIEHS SNP Function Prediction FuncPred predicts missense change in SNP is possibly/probably damaging.