IGF-1 polymorphisms modulate the susceptibility to osteonecrosis of the femoral head among Chinese Han population

Abstract

The study was performed to investigate the genetic associations of IGF-1 polymorphisms rs35767, rs5742714, and rs972936 with susceptibility to osteonecrosis of the femoral head (ONFH) among Chinese Han population. Totally, 101 ONFH patients and 128 healthy controls were enrolled. Hardy–Weinberg equilibrium (HWE) was detected with chi-square test in control group. Odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated to estimate the relationship between IGF-1 polymorphisms and ONFH risk. Besides, hyplotype analysis was performed to examine linkage disequilibrium between the studied polymorphisms. Genotype AA and allele A of polymorphism rs35767 were more frequent in control group, and offered protection for ONFH onset (AA: OR = 0.382, 95% CI = 0.158-0.923; A: OR = 0.650, 95% CI = 0.442–0.956). Furthermore, the negative relationship was also observed between ONFH risk and polymorphism rs5742714 under the comparisons CG vs CC, and G vs C (OR = 0.395, 95%CI = 0.199–0.787; OR = 0.346, 95%CI = 0.191–0.627). While the polymorphism rs972936 significantly enhanced the disease risk (CT vs CC: OR = 2.434, 95% CI = 1.184–5.003; TT vs CC: OR = 2.497, 95% CI = 1.040–5.990). Furthermore, haplotype analysis demonstrated that C-T (rs5742714–rs972936) could increase ONFH risk (OR = 2.177, 95% CI = 1.444–3.283), while G-T might be a protective factor for ONFH (OR = 0.472, 95% CI = 0.254–0.878). IGF-1 polymorphisms rs35767, rs5742714, and rs972936 show significant association with ONFH risk.

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“…Osteonecrosis of the femoral head (ONFH) is an obstinate bone illness resulting in collapse of the femoral head and movement disorder of hip joint [1]. The performance of ONFH may be painless, but serious pain and loss of movement show up by and large [2].…”

Identification of an IGF1 mutation (c.15+3G>A) in familial osteonecrosis of the femoral head

“…Through Hardy–Weinberg equilibrium test and haplotype analysis, Wang et al found that IGF1 polymorphism was closely related to the susceptibility to osteonecrosis of the femoral head. [ 12 ] Familial osteonecrosis of the femoral head is typically inherited as an autosomal dominant trait, [ 13 ] and thus offspring are likely to have the same genetic mutation leading to the disease. Existing gene detection techniques can be used to provide molecular prenatal diagnosis along with further genetic counseling to enable early and effective interventions and treatments.…”

Emerging roles of growth factors in osteonecrosis of the femoral head

“…In a study on rabbits with steroid-induced ONFH, IGF-1 was measured via enzyme-linked immunosorbent assay at 4, 8, and 16 weeks, and the results revealed that IGF-1 expression began to increase 4 weeks earlier than the appearance of abnormal bone marrow tissue in rabbits (Saygun et al, 2012;Xu et al, 2021). Wang et al (2019) investigated the genetic association between the IGF-1 polymorphisms rs35767, rs5742714, and rs972936 and susceptibility to ONFH among the Han Chinese population (101 patients with ONFH and 128 healthy individuals). Significant differences were observed in the three polymorphisms between ONFH and control groups.…”

“… Wang et al (2019) investigated the genetic association between the IGF-1 polymorphisms rs35767, rs5742714, and rs972936 and susceptibility to ONFH among the Han Chinese population (101 patients with ONFH and 128 healthy individuals). Significant differences were observed in the three polymorphisms between ONFH and control groups.…”