P2X4R和CAMKK2中的多态性可能影响肿瘤坏死因子α的产生：对其在HIV相关感觉神经病变中作用的启示。
Polymorphisms in P2X4R and CAMKK2 may affect TNFα production: Implications for a role in HIV-associated sensory neuropathy.
作者信息
Gaff Jessica, Halstrom Samuel, Temple Suzanna E L, Baltic Svetlana, Kamerman Peter, Price Patricia
机构信息
School of Biomedical Science, Curtin University, Perth, Australia.
School of Biomedical Science, Curtin University, Perth, Australia; School of Medicine, University of Queensland, Brisbane, Australia.
出版信息
Hum Immunol. 2018 Apr;79(4):224-227. doi: 10.1016/j.humimm.2018.02.002. Epub 2018 Feb 8.
Polymorphisms in P2X4R and CAMKK2 associate with susceptibility to HIV-associated sensory neuropathy (HIV-SN) - a condition likely mediated by TNFα. As single nucleotide polymorphisms (SNPs) and haplotypes of CAMKK2, and a neighbouring gene P2X4R, mark susceptibility to HIV-SN in South Africans living with HIV, we examined the relationship between P2X4R and CAMKK2 genotypes and TNFα production. Peripheral blood mononuclear cells from 129 healthy donors were stimulated with killed Escherichia coli, and concentrations of soluble TNFα were assessed. Their DNA was genotyped for 22 SNPs in P2X4R and CAMKK2. Three SNPs within P2X4R and two SNPs within CAMKK2 influenced concentrations of TNFα, but these SNP did not associate with risk for HIV-SN. This incongruence may reflect differences in P2X4R haplotypes present in Africans and Europeans. However some CAMKK2 haplotypes were found in both populations, so CAMKK2 polymorphisms may impact upon HIV-SN via effects of the protein on pathways other than TNFα.
P2X4R和CAMKK2基因多态性与HIV相关感觉神经病变（HIV-SN）的易感性相关，这种疾病可能由肿瘤坏死因子α（TNFα）介导。由于CAMKK2以及相邻基因P2X4R的单核苷酸多态性（SNP）和单倍型可表明南非HIV感染者对HIV-SN的易感性，我们研究了P2X4R和CAMKK2基因分型与TNFα产生之间的关系。用灭活的大肠杆菌刺激129名健康供者的外周血单个核细胞，并评估可溶性TNFα的浓度。对他们的DNA进行P2X4R和CAMKK2基因中22个SNP的基因分型。P2X4R基因内的3个SNP和CAMKK2基因内的2个SNP影响TNFα的浓度，但这些SNP与HIV-SN风险无关。这种不一致可能反映了非洲人和欧洲人P2X4R单倍型的差异。然而，在这两个人群中都发现了一些CAMKK2单倍型，因此CAMKK2基因多态性可能通过该蛋白对TNFα以外的其他途径产生影响，从而对HIV-SN产生影响。
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