2015年9月29日/生物谷BIOON/–青岛大学医学院附属医院李长贵教授在《Scientific Reports》上发表了一篇论文称,他们鉴定出了一个与中国汉族男性痛风发作风险相关基因的单核苷酸多态性。IL-23R基因的rs10889677突变可能导致了汉族男性的痛风病情的发展。
白细胞介素和白细胞介素受体的基因由于参与先天免疫,与自身免疫性疾病可能存在一定关联,从而被认为与痛风的易感性之间可能存在相关性。该研究的目的是了解中国汉族男性中,是否有白细胞介素和白细胞介素受体的基因突变位点,可以决定痛风的易感性。青岛大学的李长贵教授与他的研究团队,招募了1100名患有痛风的男性,同时还有1227位种族匹配的对照组。
研究者们发现了可能与痛风相关的几个基因变异,这些基因为白细胞介素、白细胞介素受体和信号转导因子等。进一步的分析表明,在白细胞介素受体基因IL-23R中的rs10889677变异,与中国汉族男性痛风的易感性存在明显相关性。研究者表示需要在其他族群中进行进一步研究来证实这些研究结果。通过了解汉族族群中痛风相关的基因突变,可以作为该病早期诊断的依据之一,也为相应的治疗策略提供了方向。(基因宝jiyinbao.com)
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Associations between interleukin and interleukin receptor gene polymorphisms and risk of gout
Gout is a self-limiting, auto-inflammatory arthritis induced by the deposition of monosodium urate crystals in the synovial fluid and periarticular tissues. The aim of this study was to investigate the associations between genetic variants in the interleukin (IL) and interleukin receptor (ILR) genes IL-33, IL-1RL1, IL-23R, and signal transducer and activator of transcription 4 (STAT4) and susceptibility to gout in Chinese Han male individuals. The genetic distributions of rs3939286 in IL-33, rs13015714 in IL-1RL1, rs10889677 in IL-23R, and rs7574865 inSTAT4 were detected in 1100 men with gout and 1227 ethnically matched controls, using Taqman allelic discrimination real-time polymerase chain reaction (PCR). Differences in these polymorphisms between the groups were investigated using χ2 tests. The genotype-phenotype relationship among gout patients was tested by analysis of variance. There was a significant difference in genotypic frequencies of IL-23R rs10889677 between gout patients and controls (χ2 = 81.386, P < 0.001). However, there were no significant differences in distributions of the other polymorphisms between the groups. Our results revealed that the rs10889677 variant in IL-23R may be involved in the development of gout in Chinese Han male individuals. However, further studies in other ethnic groups are needed to confirm these results.