Department of Orthopedic Trauma, the Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Haikou, 570311, Hainan Province, China.
Department of Emergency and Critical Care Medicine, the Haikou Orthopedic and Diabetes Hospital of Shanghai Sixth People's Hospital, No. 3, Changxiu Road, Haikou, 570300, Hainan Province, China.
Neurol Sci. 2022 Apr;43(4):2823-2830. doi: 10.1007/s10072-021-05486-7. Epub 2021 Aug 10.
Alcohol-induced osteonecrosis femoral head necrosis (ONFH) is a disease that seriously affects human health. Abnormal expression of L3MBTL3/PTPN9 gene can cause a variety of human diseases. The purpose of this study is to investigate the effect of L3MBTL3/PTPN9 gene polymorphism on the susceptibility of alcohol-induced ONFH in Chinese Han population.
A total of 308 alcohol-induced ONFH patients and 425 healthy controls were enrolled in this case-control study. Alleles, genotypes, genetic models, haplotypes, and multifactor dimensionality reduction analyses (MDR) based on age-corrected by using odds ratio (OR) and 95% confidence interval (CI) were performed.
Our result revealed rs2068957 in the L3MBTL3 gene increased the risk of alcohol ONFH under the recessive model after correction. Besides, we also found that rs75393192 in the PTPN9 gene was a protective site in stratification over 40 years of age and stage. In stratified analysis of necrotic sites, we only found that rs2068957 was associated with increased susceptibility of alcohol-induced ONFH under the co-dominant model and recessive model. Haplotype "GC" in the block (rs76107647|rs10851882 in PTPN9 gene) significantly decreased the susceptibility of alcoholic ONFH.
Our results provide evidence that L3MBTL3/PTPN9 polymorphisms are associated with alcohol-induced ONFH risk in Chinese Han population.
酒精性股骨头坏死（ONFH）是一种严重影响人类健康的疾病。L3MBTL3/PTPN9 基因的异常表达可导致多种人类疾病。本研究旨在探讨 L3MBTL3/PTPN9 基因多态性对汉族人群酒精性 ONFH 易感性的影响。
采用病例对照研究，共纳入 308 例酒精性 ONFH 患者和 425 例健康对照。采用单核苷酸多态性（SNP）基因分型技术，对候选基因 L3MBTL3 和 PTPN9 上的 SNP 位点进行基因分型，应用优势比（OR）及其 95%可信区间（95%CI）对 SNP 与酒精性 ONFH 的相关性进行分析。
rs2068957 位于 L3MBTL3 基因，在隐性模型下，校正年龄后，等位基因和基因型与酒精性 ONFH 易感性显著相关（校正 P<0.05）。此外，我们还发现 PTPN9 基因上的 rs75393192 位点在 40 岁以上和分期分层中是一个保护位点。在坏死部位的分层分析中，我们仅发现 rs2068957 在共显性模型和隐性模型下与酒精性 ONFH 的易感性增加相关。PTPN9 基因上 rs76107647|rs10851882 之间的“GC”单倍型与酒精性 ONFH 的易感性显著降低相关。
我们的研究结果表明，L3MBTL3/PTPN9 基因多态性与汉族人群酒精性 ONFH 易感性相关。
