TABLE 1.
Distribution of TMEM173 HAQ and TMEM173 R232H in patients and healthy controls
| Parameter | Value(s) for: |
||
|---|---|---|---|
| Patients | Control group | Replication control groupa | |
| No. | 87 | 92 | 564 |
| Proportion female [% (n)] | 48 (42) | 53.2 (49) | 63.7* (359) |
| Age [yr; median (range)] | 66 (36–94) | 72 (35–93) | 32.0* (22–74) |
| TMEM173 HAQ [% (n)] | |||
| Heterozygous | 24 (21) | 20.6 (19) | 24.6 (139) |
| Homozygous | 1 (1) | 0 (0) | 1.4 (8) |
| Haplotype carrier | 25 (22) | 20.6 (19) | 26.1 (147) |
| Allele frequency | 0.132 | 0.103 | 0.137 |
| TMEM173 R232H [% (n)] | |||
| Heterozygous | 23.0 (20) | 29.3 (27) | 23.8 (134) |
| Homozygous | 0 (0) | 2.2 (2) | 1.8 (10) |
| Haplotype carrier | 23.0 (20) | 31.5 (29) | 25.5 (144) |
| Allele frequency | 0.115 | 0.168 | 0.137 |
a
*, P < 0.05 compared to the patient group.