Table 2 Multi-population associations of known symptoms and diagnoses with odds of uterine fibroids diagnosis
From: A phenome-wide association study of uterine fibroids reveals a marked burden of comorbidities
Phecode | Description | Phecode cases | Phecode controls | OR (95% CI) | P value | I² | I² p value |
|---|---|---|---|---|---|---|---|
Circulatory system | |||||||
458.9 | Hypotension NOS | 1636 | 70,610 | 0.53 (0.46, 0.62) | 4.74E−18 | 78.10 | 3.38E−03 |
Dermatologic | |||||||
701 | Other hypertrophic & atrophic conditions of skin | 2976 | 68,771 | 2.02 (1.86, 2.19) | 1.13E−61 | 0.00 | 6.70E−01 |
Endocrine/metabolic | |||||||
241 | Nontoxic nodular goiter | 2920 | 59,857 | 1.81 (1.66, 1.97) | 3.82E−41 | 0.00 | 7.00E−01 |
241.2 | Nontoxic multinodular goiter | 1671 | 59,857 | 1.98 (1.77, 2.21) | 5.47E−34 | 0.00 | 9.00E−01 |
261.4 | Vitamin D deficiency | 8608 | 60,154 | 1.43 (1.35, 1.51) | 4.49E−36 | 93.70 | 2.73E−10 |
272 | Disorders of lipoid metabolism | 19,190 | 53,592 | 1.47 (1.40, 1.54) | 4.61E−59 | 65.80 | 3.00E−02 |
272.1 | Hyperlipidemia | 19,057 | 53,592 | 1.47 (1.40, 1.54) | 1.09E−58 | 70.00 | 2.00E−02 |
272.13 | Mixed hyperlipidemia | 5235 | 53,592 | 1.64 (1.52, 1.76) | 2.58E−41 | 94.70 | 2.73E−12 |
278 | Overweight, obesity & other hyperalimentation | 15,899 | 55,481 | 1.52 (1.45, 1.60) | 2.21E−58 | 93.30 | 1.13E−09 |
Genitourinary/Reproductive | |||||||
599 | Other symptoms/disorders or the urinary system | 12,959 | 54,074 | 1.91 (1.82, 2.00) | 9.95E−162 | 59.10 | 6.00E−02 |
599.3 | Dysuria | 6164 | 54,074 | 1.97 (1.85, 2.10) | 3.74E−97 | 35.50 | 2.00E−01 |
599.4 | Urinary incontinence | 3175 | 54,074 | 2.12 (1.95, 2.31) | 7.54E−67 | 59.40 | 6.00E−02 |
599.5 | Frequency of urination and polyuria | 3871 | 54,074 | 1.98 (1.83, 2.14) | 3.67E−66 | 0.00 | 5.30E−01 |
614 | Inflammatory diseases of female pelvic organs | 7159 | 60,787 | 2.40 (2.27, 2.55) | 5.03E−190 | 86.20 | 7.43E−05 |
614.1 | Pelvic peritoneal adhesions, female (postoperative) (postinfection) | 416 | 60,787 | 3.43 (2.79, 4.21) | 1.52E−31 | 75.60 | 6.42E−03 |
614.3 | Pelvic inflammatory disease | 684 | 60,787 | 3.57 (3.03, 4.21) | 3.74E−52 | 69.90 | 1.87E−02 |
614.32 | Chronic inflammatory pelvic disease | 232 | 60,787 | 5.92 (4.50, 7.79) | 4.17E−37 | 88.90 | 6.15E−06 |
614.5 | Inflammatory disease of cervix, vagina, and vulva | 5733 | 60,787 | 2.09 (1.96, 2.23) | 4.14E−109 | 0.00 | 6.70E−01 |
614.51 | Cervicitis and endocervicitis | 534 | 60,787 | 2.51 (2.08, 3.04) | 3.84E−21 | 0.00 | 9.30E−01 |
614.52 | Vaginitis and vulvovaginitis | 4314 | 60,787 | 2.06 (1.92, 2.22) | 4.24E−82 | 0.00 | 4.60E−01 |
615 | Endometriosis | 1417 | 60,787 | 7.89 (7.02, 8.88) | 2.59E−258 | 90.10 | 1.27E−06 |
619 | Noninflammatory female genital disorders | 4959 | 63,970 | 3.72 (3.48, 3.97) | 1.37E−337 | 94.80 | 1.43E−12 |
619.2 | Disorders of uterus, not elsewhere classified | 1452 | 63,970 | 4.96 (4.44, 5.55) | 1.44E−175 | 83.40 | 4.34E−04 |
619.3 | Noninflammatory disorders of cervix | 389 | 63,970 | 3.13 (2.51, 3.89) | 2.47E−24 | 0.00 | 3.90E−01 |
619.4 | Noninflammaotry disorders of vagina | 960 | 63,970 | 2.55 (2.20, 2.96) | 9.15E−36 | 0.00 | 5.70E−01 |
621 | Endometrial hyperplasia | 628 | 71,408 | 6.94 (5.81, 8.29) | 1.76E−101 | 87.40 | 2.79E−05 |
625 | Pain & other symptoms associated with female genital organs | 7203 | 57,548 | 3.02 (2.85, 3.20) | 9.09E−311 | 44.80 | 1.40E−01 |
626 | Disorders of menstruation & other abnormal bleeding from female genital tract | 19,566 | 36,491 | 6.45 (6.13, 6.78) | 5.60E−1130 | 98.10 | 8.11E−35 |
626.1 | Irregular menstrual cycle/bleeding | 16824 | 36,491 | 6.64 (6.31, 7.00) | 2.24E−1111 | 97.90 | 2.36E−31 |
626.11 | Absent or infrequent menstruation | 2992 | 36,491 | 2.61 (2.37, 2.88) | 2.91E−82 | 82.10 | 7.78E−04 |
626.12 | Excessive or frequent menstruation | 7184 | 36,491 | 12.16 (11.40, 12.96) | 1.87E−1262 | 97.90 | 1.14E−30 |
626.13 | Irregular menstrual cycle | 5635 | 36,491 | 5.29 (4.93, 5.67) | 3.94E−475 | 95.10 | 4.26E−13 |
626.14 | Irregular menstrual bleeding | 798 | 36,491 | 8.85 (7.56, 10.36) | 6.19E−163 | 75.30 | 6.96E−03 |
626.2 | Dysmenorrhea | 2362 | 36,491 | 10.16 (9.19, 11.23) | 2.17E−448 | 93.10 | 1.92E−09 |
626.8 | Infertility, female | 1475 | 36,491 | 3.26 (2.88, 3.68) | 4.03E−79 | 97.10 | 3.44E−22 |
628 | Ovarian cyst | 5652 | 36,491 | 6.65 (6.21, 7.12) | 6.52E−636 | 96.70 | 2.23E−19 |
Hematopoietic | |||||||
280 | Iron deficiency anemias | 5212 | 52,531 | 1.75 (1.63, 1.87) | 2.35E−59 | 87.20 | 3.23E−05 |
Neoplasms | |||||||
182 | Malignant neoplasm of uterus | 420 | 55,080 | 247.70 (182.98, 335.30) | 9.15E−279 | 94.10 | 5.97E−11 |
218 | Benign neoplasm of uterus | 9025 | 56,171 | 4625.78 (3507.46, 6100.66) | 3.87E−778 | 45.00 | 1.40E−01 |
Symptoms | |||||||
798 | Malaise and fatigue | 17,062 | 48,658 | 1.42 (1.36, 1.49) | 2.02E−56 | 75.20 | 7.00E−03 |
