Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients

Table 1 Patient characteristics

	Extended clinical subtypes				Row summary	P value
	I	III	IV	V	Row summary	P value
No. of patients (%)	39 (13.4)	67 (23.1)	162 (55.9)	22 (7.6)	n = 290
Gender						0.262
Female	15	29	73	9	n = 126 (43.4%)
Male	24	38	89	13	n = 164 (56.6%)
Age
Average last-visit age (years)^a	10.3 ± 10.3	17.2 ± 8.5	11.5 ± 6.8	11.8 ± 6.5	12.6 ± 8.1	< 0.001
Genotypes—autosomal dominant and compound^b
COL1A1 (I–IV) (qual v. quant^c)	15	19	42	0	n = 76 (34.4%)
COL1A1 (I–IV) (qual v. quant^c)	(2 v. 13)	(13 v. 6)	(26 v.16)	0	n = 76 (34.4%)
COL1A2 (I–IV) (qual v. quant^c)	10 (7 v. 3)	9 (9 v. 0)	50 (40 v. 10)	0	n = 69 (31.2%)
COL1A1, COL1A2 (cmpd)	0	1	0	0	n = 1 (0.5%)
IFITM5 (V)	0	0	0	18	n = 18 (8.1%)
IFITM5, COL1A1(cmpd)	0	0	0	2	n = 2 (0.9%)
Genotypes—autosomal recessive and compound^b
WNT1 (XV)	1	8	11	0	n = 20 (9.0%)
SERPINF1 (VI)	0	3	6	0	n = 9 (4.1%)
FKBP10 (XI)	0	1	5	0	n = 6 (2.7%)
P3H1 (VIII)	0	1	1	0	n = 2 (0.9%)
BMP1 (XIII)	0	1	0	0	n = 1 (0.5%)
SERPINH1 (X)	0	0	1	0	n = 1 (0.5%)
COL1A1, COL1A2, BMP1 (cmpd)	0	0	1	0	n = 1 (0.5%)
FKBP10, COL1A1	0	1	0	0	n = 1 (0.5%)
SEC24D, COL1A1 (cmpd)	0	0	1	0	n = 1 (0.5%)
Genotypes—otherwise
No mutation^d	2	2	9	0	n = 13 (5.9%)
Not tested (%)	11 (15.9)	21 (30.4)	35 (50.7)	2 (2.9)	n = 69

^aPlus–minus values are means ± SD. Current age: age (in years) at study cut-off date. Last-visit age: age (in years) at last hospital visits when X-rays of the spine were also taken. IQR inter-quartile range
^bRoman numbers in brackets indicate OMIM subtypes. Cmpd: compound
^cQualitative mutations versus quantitative mutations
^d No mutation on the 18 OI risk genes tested in the current study

ISSN: 1750-1172