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首页> 外文期刊>Biochemical Genetics >SLC11A1 polymorphisms are associated with the risk of chronic obstructive pulmonary disease in a Korean population.
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SLC11A1 polymorphisms are associated with the risk of chronic obstructive pulmonary disease in a Korean population.

机译：SLC11A1基因多态性与韩国人群患慢性阻塞性肺病的风险有关。

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摘要

The solute carrier family 11 member 1 (SLC11A1) protein plays important roles in macrophage activation and displays pleiotropic effects on various macrophage functions, including the regulation of tumor necrosis factor-alpha (TNF-alpha), interleukin-1beta (IL-1beta), and oxidative burst. Considering the important roles of macrophage in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that the SLC11A1 gene may act as a low-penetrance susceptibility gene for COPD. To test this hypothesis, we first examined the frequencies of 12 candidate polymorphisms in the SLC11A1 gene in 27 healthy Korean individuals, and then genotyped 3 haplotype-tagging polymorphisms [IVS4 + 14G > C (rs3731865), D543 N (rs17235409), and (*)86A > G (rs1059823)] in 83 COPD patients and 203 healthy controls. Individuals with at least one variant allele of the D543 N and (*)86A > G polymorphisms were at a significantly increased risk for COPD compared with carriers with each homozygous wild-type allele [adjusted odds ratio (OR) = 2.23, 95% confidence interval (CI) = 1.24-4.02, P = 0.007; and adjusted OR = 1.92, 95% CI = 1.10-3.35, P = 0.022, respectively]. Consistent with the findings of the genotyping analysis, the 122 haplotype carrying both the 543 N and (*)86G alleles was associated with a significantly increased risk for COPD compared with the 111 haplotype with the 542D and (*)86A alleles (adjusted OR = 2.05, 95% CI = 1.19-3.51, P = 0.009 and Bonferroni corrected P = 0.027). These findings suggest that the SLC11A1 polymorphisms could be used as markers for genetic susceptibility to COPD. However, further studies with large numbers of subjects are needed to confirm our findings.
机译：溶质载体家族11成员1（SLC11A1）蛋白在巨噬细胞激活中起着重要作用，并对多种巨噬细胞功能表现出多效性作用，包括调节肿瘤坏死因子-α（TNF-alpha），白介素1beta（IL-1beta），和氧化爆发。考虑到巨噬细胞在慢性阻塞性肺疾病（COPD）发病机理中的重要作用，我们假设SLC11A1基因可能作为COPD的低渗透敏感性基因。为了检验这个假设，我们首先检查了27位健康的韩国人SLC11A1基因中12种候选多态性的频率，然后对3个单倍型标签多态性进行了基因分型[IVS4 + 14G> C（rs3731865），D543 N（rs17235409）和（ *）86A> G（rs1059823）]在83位COPD患者和203位健康对照中。与具有纯合野生型等位基因的携带者相比，具有至少一个D543 N和（*）86A> G多态性等位基因变异的个体患COPD的风险显着增加[调整后的优势比（OR）= 2.23，置信度为95％间隔（CI）= 1.24-4.02，P = 0.007;并分别调整OR = 1.92、95％CI = 1.10-3.35，P = 0.022]。与基因分型分析的结果一致，携带543 N和（*）86G等位基因的122单倍型与542D和（*）86A等位基因的111单倍型相比，COPD的风险显着增加（调整后的OR = 2.05，95％CI = 1.19-3.51，P = 0.009，Bonferroni校正后的P = 0.027）。这些发现表明，SLC11A1多态性可以用作COPD遗传易感性的标记。但是，需要对大量受试者进行进一步研究以证实我们的发现。

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