PubMed:24896147 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/24896147","sourcedb":"PubMed","sourceid":"24896147","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/24896147","text":"Role of TNF block genetic variants in HIV-associated sensory neuropathy in black Southern Africans.\nHIV-associated sensory neuropathy (HIV-SN) is a common neurological complication of HIV infection. The TNF block is a region within the central MHC that contains many immunoregulatory genes. Polymorphisms and haplotypes of the TNF block have been associated with increased risk of HIV-SN in Asians and whites. Here we investigated genetic associations with HIV-SN in 342 black Southern Africans (190 cases and 152 neuropathy-free controls) using single nucleotide polymorphisms (SNPs) spanning the TNF block and a set of haplotypes defined by 31 SNPs in Asian and white populations (denoted FVa). We included population-appropriate tagSNPs derived from an African population (Yoruban, YRI, HapMap) and derived extended haplotypes comprising 61 SNPs (denoted FVa_ext b). We found no association between HIV-SN and carriage of two SNPs (TNF-1031/rs1799964*C and BAT1 (intron10)/rs9281523*C) associated with HIV-SN in whites and Asians. Additionally, a haplotype containing TNF-1031/rs1799964*C associated with increased risk of HIV-SN in Asians, but was not present in this African population. However, alleles of seven SNPs associated with reduced risk of HIV-SN (corrected for age, height and multiple comparisons). These were rs11796*A, rs3130059*G, rs2071594*C, NFKBIL1-62/rs2071592*A, rs2071591*A, LTA+252/rs909253*G, rs1041981*C. One haplotype (FV18_ext1), not containing these alleles, was associated with increased risk of HIV-SN after correction for age, height and multiple comparisons. Our results confirm the involvement of genes in the TNF block in altering risk for HIV-SN, but genotypes critical in this African population differed from those affecting HIV-SN in whites and Asians. These differences support the need for genetic association studies in diverse populations.","tracks":[{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":115,"end":133},"obj":"HP_0000763"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"24896147-0#8#11#gene7124","span":{"begin":8,"end":11},"obj":"gene7124"},{"id":"24896147-0#53#71#diseaseC0151313","span":{"begin":53,"end":71},"obj":"diseaseC0151313"},{"id":"24896147-4#188#191#gene7124","span":{"begin":598,"end":601},"obj":"gene7124"},{"id":"24896147-4#104#114#diseaseC0442874","span":{"begin":514,"end":524},"obj":"diseaseC0442874"}],"relations":[{"id":"8#11#gene712453#71#diseaseC0151313","pred":"associated_with","subj":"24896147-0#8#11#gene7124","obj":"24896147-0#53#71#diseaseC0151313"},{"id":"188#191#gene7124104#114#diseaseC0442874","pred":"associated_with","subj":"24896147-4#188#191#gene7124","obj":"24896147-4#104#114#diseaseC0442874"}],"attributes":[{"subj":"24896147-0#8#11#gene7124","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24896147-0#53#71#diseaseC0151313","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24896147-4#188#191#gene7124","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24896147-4#104#114#diseaseC0442874","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"Wangshuguang","denotations":[{"id":"T1","span":{"begin":168,"end":180},"obj":"B-Negative_Function"},{"id":"T2","span":{"begin":207,"end":212},"obj":"B-Variation"},{"id":"T3","span":{"begin":213,"end":215},"obj":"B-Regulation"},{"id":"T4","span":{"begin":216,"end":217},"obj":"I-Regulation"},{"id":"T5","span":{"begin":218,"end":224},"obj":"I-Regulation"},{"id":"T6","span":{"begin":614,"end":617},"obj":"B-Molecular_Activity"},{"id":"T7","span":{"begin":882,"end":893},"obj":"B-Function"},{"id":"T8","span":{"begin":966,"end":974},"obj":"B-Variation"},{"id":"T9","span":{"begin":1388,"end":1399},"obj":"B-Variation"}],"attributes":[{"subj":"T1","pred":"source","obj":"Wangshuguang"},{"subj":"T2","pred":"source","obj":"Wangshuguang"},{"subj":"T3","pred":"source","obj":"Wangshuguang"},{"subj":"T4","pred":"source","obj":"Wangshuguang"},{"subj":"T5","pred":"source","obj":"Wangshuguang"},{"subj":"T6","pred":"source","obj":"Wangshuguang"},{"subj":"T7","pred":"source","obj":"Wangshuguang"},{"subj":"T8","pred":"source","obj":"Wangshuguang"},{"subj":"T9","pred":"source","obj":"Wangshuguang"}]},{"project":"123123123","denotations":[{"id":"T1","span":{"begin":168,"end":180},"obj":"B-Negative_Function"},{"id":"T2","span":{"begin":207,"end":212},"obj":"B-Variation"},{"id":"T3","span":{"begin":213,"end":215},"obj":"B-Regulation"},{"id":"T4","span":{"begin":216,"end":217},"obj":"I-Regulation"},{"id":"T5","span":{"begin":218,"end":224},"obj":"I-Regulation"},{"id":"T6","span":{"begin":614,"end":617},"obj":"B-Molecular_Activity"},{"id":"T7","span":{"begin":882,"end":893},"obj":"B-Function"},{"id":"T8","span":{"begin":966,"end":974},"obj":"B-Variation"},{"id":"T9","span":{"begin":1388,"end":1399},"obj":"B-Variation"}],"attributes":[{"subj":"T1","pred":"source","obj":"123123123"},{"subj":"T2","pred":"source","obj":"123123123"},{"subj":"T3","pred":"source","obj":"123123123"},{"subj":"T4","pred":"source","obj":"123123123"},{"subj":"T5","pred":"source","obj":"123123123"},{"subj":"T6","pred":"source","obj":"123123123"},{"subj":"T7","pred":"source","obj":"123123123"},{"subj":"T8","pred":"source","obj":"123123123"},{"subj":"T9","pred":"source","obj":"123123123"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubmedHPO","color":"#93ec9c","default":true},{"id":"DisGeNET5_gene_disease","color":"#ec93a4"},{"id":"Wangshuguang","color":"#93beec"},{"id":"123123123","color":"#d8ec93"}]}]}}