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ABSTRACTLumbar disc herniation (LDH) is a common spinal disease that endangers human health. Genetic factors play a vital role in the progression of LDH. This study aimed to explore the relationship of the MIR31HGpolymorphism with LDH risk in the Chinese population. Seven candidate SNPs on MIR31HGin 504 patients with LDH and 503 healthy people were genotyped by Agena MassARRAY platform. Logistic regression was used to calculate the relationship between MIR31HGpolymorphism and LDH risk under different genetic models. Multi-factor dimensionality reduction (MDR) analysis was performed to evaluate the SNP–SNP interaction. We found that rs10965059 was significantly associated with a decreased risk of LDH under the dominant (OR = 0.46, 95% CI: 0.34–0.62, P< 0.001), log-additive (OR = 0.59, 95%CI: 0.45–0.76, P< 0.001), and codominant (OR = 0.40, 95%CI: 0.29–0.55, P< 0.001) models in the overall analysis. In the subgroup analyses of age, male, and complications, we found that rs10965059 was associated with a reduced risk of LDH. However, there was no significant correlation between MiR-31HGpolymorphisms and risk of LDH in females. In addition, the three SNPs (rs72703442-rs2025327-rs55683539) was mapped to a 26kb LD block with D’ >0.96, suggesting a significant linkage disequilibrium presence among each pair SNPs. MDR analysis showed that the best single-locus and multi-locus models for the prediction of LDH risk were rs10965059 and seven-locus models, respectively, and both of them increased LDH risk. Our results shown that in the Chinese Han population, the MIR31HGpolymorphism rs10965059 was involved in a risk to symptomatic LDH, which provides a scientific basis for early screening, prevention, diagnosis and treatment of local LDH high-risk populations.

Background: Genetic factors play a critical role in the pathogenesis of osteoporosis. The imbalance of WNT/β-catenin will cause the occurrence of osteoporosis. LRP5and AXIN1play an important role in the classical Wnt/β-catenin signaling pathway. Our study was aimed to determine the association between five candidate single nucleotide polymorphisms (SNPs) of LRP5or AXIN1and osteoporosis susceptibility in Chinese Han population. Methods: A total of 599 osteoporosis patients and 599 healthy individuals were recruited for this case-control study. Agena MassARRAY was used to genotype SNPs. The association between SNPs and osteoporosis susceptibility in different genetic models was analyzed by PLINK software. We used false-positive report probability (FPRP) analysis to detect whether the positive results were just chance or noteworthy observations. Multifactor dimension reduction (MDR) was used to analyze the interaction of SNP–SNP in the osteoporosis risk. Finally, haplotype analysis was performed by plink1.07 and Haploview software. Results: We found that LRP5rs11228240, AXIN1rs2301522, and rs9921222 were significantly associated with the osteoporosis susceptibility. The results of subgroup analysis showed that LRP5rs11228240 (protective factor) and AXIN1rs2301522 (risk factor) were associated with the susceptibility of osteoporosis among participants who were age >60 years, female or BMI ≤ 24; AXIN1rs9921222 significantly increased the risk of osteoporosis among participants with BMI ≤ 24. The genotype Ars2301522Crs9921222could increase the susceptibility of osteoporosis (p= 0.026). The rs11228219LPR5, rs11228240 LPR5, rs2301522AXIN1, and rs9921222AXIN1four-site model was the best model for predicting the osteoporosis risk (test accuracy = 0.541; CVC = 10/10). Conclusions: The LRP5-rs11228240, AXIN1-rs2301522, and AXIN1-rs9921222 were associated with osteoporosis susceptibility in Chinese Han population.