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

Table 3 Scoliosis severity with respect to genotypes

	Scoliosis severity				Row summary	P value
	Non-scoliotic	Mild	Moderate	Severe	Row summary	P value
No. of patients	85	106	40	59	n = 290
Gender						0.262
Female	38	39	18	31	n = 126
Male	47	67	22	28	n = 164
Max Cobb angles (°)	0.6 ± 2.2	15.2 ± 3.7	34.8 ± 7.5	82.3 ± 22.9	27.3 ± 31.7	< 0.001
Mean age at Max Cobb (years)	8.4 ± 8.7	10.6 ± 6.4	15 ± 7.8	17.9 ± 6.3	12.0 ± 8.1	< 0.001
Sites of scoliosis apex of the major curve						0.068
T1–T2	0	0	0	0	n = 0
T3–T4	0	0	1	2	n = 3
T5–T6	0	9	4	7	n = 20
T7–T8	0	16	10	20	n = 46
T9–T10	0	25	6	11	n = 42
T11–T12	0	26	6	10	n = 42
L1–L2	0	29	11	9	n = 49
L3–L4	0	1	2	0	n = 3
L5	0	0	0	0	n = 0
Number of curves per patient, among the 205 patients with scoliosis						< 0.001
1 curve	0	102	30	37	n = 169
2 curves	0	4	10	21	n = 35
3 curves	0	0	0	1	n = 1
Autosomal dominant (AD)						0.422^a
COL1A1	23	29	11	13	n = 76
(Qualitative)	(10)	(15)	(7)	(9)	(n = 41)	0.438^b
(Quantitative)	(13)	(14)	(4)	(4)	(n = 35)
COL1A2	27	27	8	7	n = 69
(Qualitative)	(22)	(19)	(8)	(7)	(n = 56)	0.136^c
(Quantitative)	(5)	(8)	(0)	(0)	(n = 13)
IFITM5	3	7	3	5	n = 18
(All singleton AD)	(53)	(63)	(22)	(25)	(n = 163)
AD-compound
COL1A1, COL1A2	0	0	0	1	n = 1
IFITM5, COL1A1	0	1	0	1	n = 2
Autosomal recessive (AR) or AR/AD-compound
WNT1	5	5	4	6	n = 20
SERPINF1	1	4	2	2	n = 9
FKBP10	0	3	1	2	n = 6
P3H1	0	1	0	1	n = 2
BMP1	0	0	0	1	n = 1
SERPINH1	1	0	0	0	n = 1
(All singleton AR)	(7)	(13)	(7)	(12)	(n = 39)
AR/AD-compound
COL1A1, COL1A2, BMP1	0	0	0	1	n = 1
FKBP10, COL1A1	0	0	0	1	n = 1
SEC24D, COL1A1	1	0	0	0	n = 1
No mutation^d	3	4	3	3	n = 13
Not tested	21	25	8	15	n = 69

^aBetween severity grades and the three AD genes
^bBetween severity grades and the mutation types (quantitative or qualitative), within the COL1A1 patients
^cBetween severity grades and the mutation types (quantitative or qualitative), within the COL1A2 patients
^dNo mutation on the 18 OI risk genes tested in the current study. Plus–minus values are means ± SD

ISSN: 1750-1172