Background

Despite the known multifactorial nature of scaphoid wrist fracture non-union, a possible genetic predisposition for the development of this complication remains unknown. This pilot study aimed to address this issue by performing Single Nucleotide Polymorphisms (SNPs) analysis of specific genes known to regulate fracture healing.

Lumbar disc herniation represents by far the most prevalent pathology, causing pain and sciatica and constitutes an important cause of disability and one of the most cost-intensive health problems. The aetiology is very complex. In recent years, it has been suggested in twin and family studies that genetic risk factors contribute to the development of LDH. Our purpose is to analyse genetic susceptibility to symptomatic LDH in Spanish surgical patients treated with different surgical techniques.

Single-nucleotide polymorphisms (SNPs) in VDR, GDF5, Col1A1, THBS2 and CHST were genotyped in a case-control study with 50 symptomatic LDH in Spanish surgical patients and 50 Spanish health controls. All patients provided signed informed consent. Sampling was carried out with a puncture of the pad of a finger using a sterile, single-use lancet. SNPs were determined by real-time polymerase chain reaction (PCR) using specific, unique probes with the analysis of the melting temperature of hybrids. The X2 test compared genotypes between groups. Multivariate logistic regression analysed the significance of many covariates and the incidence of LDH.

We found significant differences in age, gender and smoking status between the two groups. There were significant differences in the CC (rs2228570) genotype in VDR in patients with LDH (p<0.05). There were significant differences in the GT (rs1800012) genotype in Col1A1 in patients with LDH (p=0.001). In Col1A1, T allele was more frequent in the case group than in the control group (p<0.001). Regarding surgical techniques, of the 50 patients included in the cases group, 25 were treated with open microdiscectomy and 25 received endoscopic discectomy. Outcomes were assessed at 12 months using VAS, and NASS instrument. Postoperative pain and pain medication were significantly reduced in the endoscopic group. Patient satisfaction is greater in the endoscopic group, with shorter hospital stays and earlier return to normal activity. GT genotype in Col1A1 was more frecuent in the endoscopic group compared to the microdiscectomy group (p=0.002).

CC genotype in VDR and GT genotype in Col1A1 are associated with symptomatic LDH susceptibility in Spanish surgical patients. GT genotype in Col1A1 is associated with symptomatic LDH treated with full-endoscopic discectomy.