Table 3.
Associations Based on SNP Status Compared With Controls
| Women With ALPL SNPs, n = 52 | Female Controls, n = 52 | Female rs121918007, n = 41 | Female rs121918002, n = 10 | Female rs19966998, n = 1 | Men With ALPL SNPs, n = 53 | Male Controls, n = 53 | Male rs121918007, n = 33 | Male rs121918002, n = 19 | Male rs19966998, n = 1 | |
|---|---|---|---|---|---|---|---|---|---|---|
| Age, ya | 59.5 (24.1) | 59.4 (23.1) | 58.17 (24.1) | 69.1 (20.3) | 18 (NA) | 56.26 (27.2) | 54.2 (27.4) | 60.7(25.4) | 43.3 (28.6) | 46 |
| P = 0.98 | P = 0.69 | |||||||||
| Average AlkP, U/Lb | 62.9 (38.8) | 85.3 (35.4) | 61.03 (30.5) | 60.22 (57.4) | 155 (NA) | 60.4 (31.0) | 100.4 (53.8) | 63.65(32.5) | 56 (29.6) | 46 |
| P = 0.005 | P < 0.001 | |||||||||
| Minimum AlkP, U/La | 43.7 (20.3) | 58.0 (21.1) | 44.94 (19.7) | 33.89 (15.7) | 89 (NA) | 46.07 (28.37) | 77.77 (52.4) | 52.54(30.5) | 36.19 (22.9) | 36 |
| P = 0.001 | P = 0.001 | |||||||||
| AlkP ever < 50 U/L, n (%) | 36 (78.3) | 18 (34.6) | 28 (68) | 8 (80) | 0 (0) | 34 (79.0) | 9 (17.0) | 20(77) | 13 (81) | 1 (1) |
| P < 0.001 | P < 0.001 | |||||||||
| AlkP ever < 40 U/L, n (%) | 25 (54.3) | 10 (19.2) | 18 (44) | 7 (70) | 0 (0) | 24 (55.8) | 2 (3.8) | 12(46) | 11 (69) | 0 (0) |
| P = 0.001 | P < 0.001 | |||||||||
| Coexistent Bone Diagnoses | ||||||||||
| Osteoarthritis, n (%) | 18 (34.6) | 21 (42) | 11 (27) | 7 (7) | 0 (0) | 10 (18.9) | 9 (17.0) | 8 (42) | 2 (11) | 0 (0) |
| P = 0.69 | P = 1.00 | |||||||||
| Rheumatoid arthritis, n (%) | 4 (7.7) | 3 (5.8) | 3 (7) | 1 (1) | 0 (0) | 2 (3.8) | 3 (5.7) | 1 (3) | 1 (5) | 0 (0) |
| P = 1.0 | P = 1.00 | |||||||||
| Chondrocalcinosis, n (%) | 6 (11.5) | 2 (3.8) | 4 (9.8) | 2 (20.0) | 0 (0) | 2 (3.77) | 1 (1.85) | 2 (6.25) | 0 (0) | 0 (0) |
| P = 0.270 | P = 1 | |||||||||
| History of long bone fractures, n (%) | 9 (17.3) | 13 (25) | 7 (17) | 2 (2) | 0 (0) | 5 (9.4) | 11 (20.8) | 2 (6) | 3 (16) | 0 (0) |
| P = 0.47 | P = 0.128 | P = 1 | P = 0.18 | P = 0.423 | P = 0.693 | |||||
| History of spine fractures, n (%) | 11 (21.2) | 1 (1.9) | 10 (24) | 1 (1) | 0 (0) | 4 (7.5) | 2 (3.8) | 2 (6) | 1 (5) | 0 (0) |
| P = 0.006 | P = 0.025 | P = 0.67 | P = 1 | P = 1 | ||||||
| Osteoporosis, n (%) | 23 (44.2) | 14 (26.9) | 18 (44) | 5 (5) | 0 (0) | 7 (13.2) | 2 (3.8) | 3 (9) | 0 (0) | 0 (0) |
| P = 0.10 | P = 0.252 | P = 0.16 | P = 0.148 | P = 1 | ||||||
| Scoliosis, n (%) | 8 (15.4) | 5 (9.6) | 7 (17) | 1 (1) | 0 (0) | 7 (13.2) P = 0.07 | 1 (1.9) | 5 (15) P = 0.053 | 2 (11) P = 0.487 | 0 (0) |
| Coexistent Dental Diagnoses | ||||||||||
| Dental abnormalities, n (%)c | 7 (13.5) | 0 (0) | 7 (17) | 0 (0) | 0 (0) | 6 (11.3) | 2 (3.8) | 0 (0) | 2 (11) | 0 (0) |
| P = 0.02 | P = 0.012 | P = 1 | P = 0.27 | P = 1 | P = 0.487 | |||||
| Gynecological History | ||||||||||
| Total abdominal hysterectomy, n (%) | 13 (25) | 14 (26.9) | 10 (24) | 3 (3) | 0 (0) | |||||
| P = 1 | P = 1 | P = 1 | ||||||||
| Oophorectomy, n (%) | 13 (25) | 7 (13.5) | 11 (27) | 2 (2) | 0 (0) | |||||
| P = 1.21 | P = 0.16 | P = 1 | ||||||||
| Endometrial abnormalities, n (%) | 10 (19.2) | 5 (9.6) | 9 (22) | 1 (1) | 0 (0) | |||||
| P = 0.26 | P = 0.12 | P = 1 | ||||||||
| Ovarian pathology, n (%) | 9 (17.3) | 0 (0.0) | 8 (2) | 1 (1) | 0 (0) | |||||
| P = 0.005 | P = 0.005 | P = 1 | ||||||||
| Any gynecological findings, n (%)d | 21 (40.4) | 8 (15.4) | 19 (46) | 2 (2) | 0 (0) | |||||
| P = 0.009 | P < 0.001 | P = 1 | ||||||||
Long bone fractures included humeral, radial, clavicular, sternal, tibial, fibular, or femoral fractures. Spine fractures included cervical, thoracic, lumbar, or sacral fractures. Endometrial abnormalities included those with endometrial polyps, hyperplasia, hypertrophy, carcinoma, adenomyosis, or dysfunctional uterine bleeding or those that underwent endometrial ablations. Ovarian pathology included those with imaging-confirmed or self-reported ovarian cysts or cystadenomas.
Abbreviation: NA, not applicable.
Mean (standard deviation).
Reference range, 40 to 140 (U/L).
Dental abnormalities included dental fractures, extractions, or other tooth loss.
Patients with at least one of oophorectomy, endometrial abnormalities, or ovarian pathology.