Background: Multiple myeloma (MM) is a malignant disease manifested by the clonal proliferation of atypical plasma cells. Macrophage inhibitory factor (MIF) is one of the pleiotropic regulators in various biological and cellular processes. Mannose-binding lectin (MBL) is a crucial protein involved in the lectin pathway of the immune system.

Objective: We aimed to assess whether variants of MIF and MBL2 genes are associated with MM among a Turkish population.

Methods: We analyzed the MIF-173G/C (rs755622) and MBL2 codon 54A/B (rs1800450) variants in 200 patients with MM and 200 healthy control subjects using a polymerase chain reaction (PCR) followed by restriction endonuclease digestion. There was also an evaluation of the patients undergoing autologous stem-cell transplantation (ASCT) for these variants.

Results: AA and BB genotypes of MBL2 codon 54A/B increased in the patients as compared to the controls (p=0.008, p=0.001, respectively). The subjects carrying AA and BB genotypes of MBL2 were at high risk of development of susceptibility to MM by 7.377 and 8.812 times, respectively. The distribution of MBL2 codon 54A/B alleles was similar between the groups (p>0 .05). There was no statistical difference between the patients and controls in the genotype and allele frequencies of the MIF- 173G/C variant (p>0 .05). The patients undergoing ASCT, MBL2 codon 54A/B AA and BB genotypes also showed association with increased risk for MM (p=0.004, p=0.001, respectively).

Conclusion: As far as we know, this is the first report of the study on an association between these variants and MM in our population. Our results indicate that the MBL2 codon 54A/B variant may be associated with susceptibility to MM.

背景：多发性骨髓瘤（MM）是一种非典型浆细胞的克隆增殖所表现出的恶性疾病。巨噬细胞抑制因子（MIF）是多种生物和细胞过程中的多效性调节剂之一。甘露糖结合凝集素（MBL）是一种参与免疫系统凝集素途径的重要蛋白质。

目的：我们旨在评估土耳其人群中MIF和MBL2基因的变异是否与MM相关。

方法：我们使用聚合酶链反应（PCR），然后进行限制性内切核酸酶消化，分析了200名MM患者和200名健康对照组的MIF-173G / C（rs755622）和MBL2密码子54A / B（rs1800450）变异。还评估了接受这些变异的自体干细胞移植（ASCT）的患者。

结果：与对照组相比，患者的MBL2密码子54A / B的AA和BB基因型增加（分别为p = 0.008，p = 0.001）。携带AA和BB基因型MBL2的受试者分别有7.377和8.812倍的患MM的高风险。组之间MBL2密码子54A / B等位基因的分布相似（p> 0.05）。在患者和对照之间，MIF-173G / C变体的基因型和等位基因频率没有统计学差异（p> 0.05）。接受ASCT，MBL2密码子54A / BAAA和BB基因型的患者也显示出与MM风险增加相关（分别为p = 0.004，p = 0.001）。

结论：据我们所知，这是关于这些变异与人群中MM关联的研究的第一份报告。我们的结果表明，MBL2密码子54A / B变异可能与MM易感性有关。