Table 3. Polymorphic and rare variants in MYOC in eastern Indian POAG cohort.
| |
|
|
|
Number of |
|
|---|---|---|---|---|---|
| Location | Nucleotide change | Amino acid change | Status | Patients (MAF) | Controls (MAF) |
| Promoter |
−83G>A* |
- |
Reported |
150/ 250 (0.33) |
67/100 (0.38) |
| |
−159T>C* |
- |
Novel |
12/250 (0.024) |
4/100 (0.02) |
| |
−190T>C |
- |
Reported |
1/250 (0.002) |
0/100 |
| |
−241G>A* |
- |
Novel |
18/250 (0.036) |
6/100 (0.03) |
| |
−320C>T* |
- |
Novel |
24/250 (0.048) |
10/100 (0.05) |
| Exon 1 |
c.98G>A |
Arg33Lys |
Novel |
1/765 (0.00065) |
0/208 |
| |
c.227G>A* |
Arg76Lys† |
Reported |
459/765 (0.33) |
139/208 (0.38) |
| |
c.309 C>T |
Thr103Thr |
Novel |
1/765 (0.00065) |
0/208 |
| |
c.372 G>C |
Leu124Leu |
Novel |
1/765 (0.00065) |
0/208 |
| |
c.419 C>G |
Thr140Ser |
Novel |
0/208 |
1/765 (0.00065) |
| Exon 3 |
c.816 A>T |
Arg272Arg |
Novel |
1/765 (0.00065) |
0/208 |
| |
c.855 G>T |
Thr285Thr‡ |
Reported |
1/765 (0.00065) |
0/208 |
| |
c.952C>T |
Leu318Leu‡ |
Reported |
1/765 (0.00065) |
0/208 |
| |
c.1041T>C |
Tyr347Tyr† |
Reported |
18/765 (0.012) |
1/208 (0.002) |
| |
c.1053C>T |
Thr351Thr |
Reported |
1/765 (0.00065) |
0/208 |
| |
c.1058C>T |
Thr353Ile‡ |
Reported |
1/765 (0.00065) |
0/208 |
| |
c.1182C>T |
Thr394Thr‡ |
Reported |
1/765 (0.00065) |
0/208 |
| |
c.1185T>G |
Asp395Glu |
Novel |
1/765 (0.00065) |
0/208 |
| |
c.1239C>T |
Leu413Leu |
Novel |
1/765 (0.00065) |
0/208 |
| c.1278C>T | Val426Val | Novel | 1/765 (0.00065) | 0/208 | |
From a cohort of 765 POAG patients, 450 DNA samples were screened for the coding region of MYOC in the present study; the remaining 315 have been analyzed before [25]. Unrelated control subjects (n=208) were enrolled from the same ethnic background. One kb upstream region of the gene was also examined for variants in 250 patients and 100 control samples. MAF: Minor Allele Frequency. † Present study and previously published [25], ‡ Previously published [25].