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Table 2 Influence of genetic factors on bone health in idiopathic scoliosis

From: Risk factors associated with low bone mineral density in children with idiopathic scoliosis: a scoping review

Gene/signal pathway

Number of studies

The sample size of IS patients

Outcome measures relate to bone

Results

Research type

VDR gene [6, 28, 31, 50]

4

717

BMD (n = 4)

VDR BsmI rs1544410 polymorphism was susceptive to low BMD in Asians

Observational study (n = 2) Systematic review (n = 2)

RANK/RANKL signal pathway [30, 32, 36, 40, 42, 44, 48, 51, 52, 54]

10

525

Bone metabolism parameters (n = 3) BMD (n = 5) Bone development endocrine (n = 1) Bone morphology parameters (n = 1)

T single nucleotide polymorphism in Adiponectin gene site rs7639352 and G → C mutation in OPG gene site 1181 may be associated with low BMD

Observational study (n = 10)

MSCs [39, 55, 56]

3

35

BMD (n = 3)

The mechanisms underlying low BMD in AIS may be related to the dropped osteogenic differentiation ability

Observational study (n = 3)

Runx2 [43,44,45]

3

78

BMD (n = 2)

Low Runx2 expression may related to low BMD

Observational study (n = 3)

IL-6 related genes [33, 34, 51]

3

472

Bone metabolism parameters (n = 1) BMD (n = 2) Bone morphology parameters (n = 1)

G-c polymorphism at the -174 and -572 sites of the IL-6 gene promoter was associated with low BMD

Adiponectin may be a key factor in this pathway

Observational study (n = 3)

miR-145/β-catenin [35, 53]

2

22

Bone metabolism parameters (n = 2)

Knockdown or overexpression of miR-145/β-catenin inhibits osteocyte function

Observational study (n = 2)

  1. VDR vitamin D receptor, BMD bone mineral density, RANK receptor activator of nuclear factor kappa-B; RANKL receptor activator of nuclear factor kappa-B ligand, OPG Osteoprotegerin, MSCs mesenchymal stem cells, IL-6 Interleukin-6