Inner Mongolia Medical University, Hohhot, China.
Department of Orthopedics and Traumatology, The Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
Mol Genet Genomic Med. 2019 Aug;7(8):e822. doi: 10.1002/mgg3.822. Epub 2019 Jun 17.
Alcohol-induced osteonecrosis of femoral head (ONFH) is a complex disease and genetic factors are one of the causes. The purpose of this study is to investigate the effects of RETN (resistin; OMIM: 605565) and LDLR (low density lipoprotein receptor; OMIM: 606945) polymorphisms on the risk of alcohol-induced ONFH in Chinese Han population.
A case-control study including 201 patients and 201 controls was designed. Seven single nucleotide polymorphisms (SNPs) in RETN gene and four SNPs in LDLR gene were genotyped using Agena MassARRAY platform. In allele model and genetic model, chi-square test and logistic regression were used to study the associations between these SNPs and ONFH susceptibility. In addition, the relationships between these SNPs, clinical phenotypes, and blood lipid level with one-way analysis of variance were analyzed.
In the allele model, rs7408174 and rs3745369 in RETN were associated with increased risk of alcohol-induced ONFH, whereas rs34861192 and rs3219175 in RETN showed reduced risk of alcohol-induced ONFH. In the genetic model, rs7408174 was associated with increased risk of alcohol-induced ONFH in dominant model and log-additive model. Rs3745369 showed an increased risk in codominant model, recessive model, and log-additive model. Rs34861192 showed a decreased risk in codominant model, dominant model, and log-additive model, and rs3219175 showed a decreased risk in dominant model and log-additive model. The rs3745368 in RETN was associated with the clinical stage of the disease.
These results suggest that RETN genetic polymorphisms are associated with the susceptibility of alcohol-induced ONFH in Chinese Han population.
酒精性股骨头坏死（ONFH）是一种复杂的疾病，遗传因素是其病因之一。本研究旨在探讨 RETN（抵抗素；OMIM：605565）和 LDLR（低密度脂蛋白受体；OMIM：606945）基因多态性对汉族人群酒精性 ONFH 发病风险的影响。
设计了一项病例对照研究，纳入了 201 例患者和 201 例对照。采用 Agena MassARRAY 平台对 RETN 基因中的 7 个单核苷酸多态性（SNP）和 LDLR 基因中的 4 个 SNP 进行基因分型。在等位基因模型和遗传模型中，采用卡方检验和 logistic 回归分析这些 SNP 与 ONFH 易感性的关系。此外，还采用单因素方差分析分析了这些 SNP 与临床表型和血脂水平的关系。
在等位基因模型中，RETN 中的 rs7408174 和 rs3745369 与酒精性 ONFH 的发病风险增加相关，而 rs34861192 和 rs3219175 则与酒精性 ONFH 的发病风险降低相关。在遗传模型中，rs7408174 在显性模型和加性模型中与酒精性 ONFH 的发病风险增加相关。rs3745369 在共显性模型、隐性模型和加性模型中均显示出增加的风险。rs34861192 在共显性模型、显性模型和加性模型中显示出降低的风险，rs3219175 在显性模型和加性模型中显示出降低的风险。RETN 中的 rs3745368 与疾病的临床分期有关。
这些结果表明，RETN 基因多态性与汉族人群酒精性 ONFH 的易感性有关。
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