Abstract：
Fishing communities living near gold mining areas are at increased risk of mercury (Hg) exposure via bioaccumulation of methylmercury (MeHg) in fish. This exposure has been linked to health effects that may be triggered by genotoxic events. Genetic polymorphisms play a role in the risk associated with Hg exposure. This study evaluated the effect of single nucleotide polymorphisms (SNPs) in metabolic and DNA repair genes on genetic instability and total hair Hg (T-Hg) levels in 78 individuals from \"La Mojana\" in northern Colombia and 34 individuals from a reference area. Genetic instability was assessed by the frequency of micronuclei (MNBN), nuclear buds (NBUDS), and nucleoplasmic bridges (NPB). We used a Poisson regression to assess the influence of SNPs on T-Hg levels and genetic instability, and a Bayesian regression to examine the interaction between Hg detoxification and DNA repair. Among exposed individuals, carriers of XRCC1Arg399Gln had a significantly higher frequency of MNBN. Conversely, the XRCC1Arg194Trp and OGG1Ser326Cys polymorphisms were associated with lower frequencies of MNBN. XRCC1Arg399Gln, XRCC1Arg280His, and GSTM1Null carriers showed lower NPB frequencies. Our results also indicated that individuals with the GSTM1Nulland GSTT1null polymorphisms had a 1.6-fold risk for higher T-Hg levels. The Bayesian model showed increased MNBN frequencies in carriers of the GSTM1Null polymorphism in combination with XRCC1Arg399Gln and increased NBUDS frequencies in the GSTM1Null carriers with the XRCC3Thr241Met and OGG1Ser326Cys alleles. The GSTM1+ variant was found to be a protective factor in individuals carrying OGG1Ser326Cys (MNBN) and XRCC1Arg280His (NPB); the GSTT1+ polymorphism combined with XRCCArg194Trp also modulated lower MNBN frequencies, while GSTT1+ carriers with the XRCC1Arg399Gln allele showed lower NPB frequencies. Consistent with GSTM1, GSTT1Null carriers with XRCC3Thr241Met showed increased NBUDS frequency. With the rise of gold mining activities, these approaches are vital to identify and safeguard populations vulnerable to Hg\'s toxic effects.
摘要：
生活在金矿开采区附近的捕鱼社区由于鱼类中甲基汞（MeHg）的生物积累而面临汞（Hg）暴露的风险增加。这种暴露与遗传毒性事件可能引发的健康影响有关。遗传多态性在与汞暴露相关的风险中起作用。这项研究评估了代谢和DNA修复基因中单核苷酸多态性（SNP）对来自哥伦比亚北部“LaMojana”的78名个体和来自参考区域的34名个体的遗传不稳定性和总发汞（T-Hg）水平的影响。通过微核频率（MNBN）评估遗传不稳定性，核芽（NBUDS），和核质桥(NPB)。我们使用泊松回归来评估SNP对T-Hg水平和遗传不稳定性的影响。和贝叶斯回归检验汞解毒与DNA修复之间的相互作用。在暴露的个体中，XRCC1Arg399Gln携带者的MNBN频率明显较高。相反，XRCC1Arg194Trp和OGG1Ser326Cys多态性与MNBN的较低频率相关。XRCC1Arg399Gln,XRCC1Arg280His,和GSTM1Null载波显示较低的NPB频率。我们的结果还表明，具有GSTM1NullandGSTT1null多态性的个体具有较高T-Hg水平的1.6倍风险。贝叶斯模型显示，GSTM1Null多态性与XRCC1Arg399Gln结合的携带者中MNBN频率增加，而具有XRCC3Thr241Met和OGG1Ser326Cys等位基因的GSTM1Null携带者中NBUDS频率增加。在携带OGG1Ser326Cys（MNBN）和XRCC1Arg280His（NPB）的个体中，发现GSTM1变体是保护因子；GSTT1多态性与XRCCArg194Trp结合也调节了较低的MNBN频率，而具有XRCC1Arg399Gln等位基因的GSTT1+携带者显示较低的NPB频率。与GSTM1一致，具有XRCC3Thr241Met的GSTT1Null载波显示NBUDS频率增加。随着金矿开采活动的兴起，这些方法对于识别和保护易受汞毒性影响的人群至关重要。
