title: Previously Unidentified Single Nucleotide Polymorphisms in HIV/AIDS Cases Associate with Clinical Parameters and Disease Progression.
abstract: The genetic background of an individual plays an important role in the progression of HIV infection to AIDS. Identifying previously unknown or uncharacterized single nucleotide polymorphisms (SNPs) that associate with disease progression may reveal important therapeutic targets and provide a greater understanding of disease pathogenesis. In the present study, we employed ultra-high multiplex PCR on an Ion Torrent next-generation sequencing platform to sequence 23 innate immune genes from 94 individuals with HIV/AIDS. This data was used to identify potential associations of SNPs with clinical parameters and disease progression. SNPs that associated with an increased viral load were identified in the genes for the interleukin 15 receptor (IL15RA), toll-like receptor 7 (TLR7), tripartite motif-containing protein 5 (TRIM5), and two killer-cell immunoglobulin-like receptors (KIR2DL1andKIR2DL3). Additionally, SNPs that associated with progression from HIV infection to AIDS were identified in two 2'-5'-oligoadenylate synthetase genes (OAS2andOAS3). In contrast, other SNPs identified inOAS2andOAS3genes, as well as in theTRIM5andKIR2DS4genes, were associated with a slower progression of disease. Taken together, our data demonstrates the utility of ultra-high multiplex PCR in identifying polymorphisms of potential clinical significance and further,identifies SNPs that may play a role in HIV pathogenesis.
authors.affiliation: Kazan State Medical University, 49 Butlerova St., Kazan 420012, Russia; Republican Clinical Hospital for Infectious Disease named after Agafonov, 83 Prospect Pobedy St, Kazan 420140, Russia.
authors.forename: Vladimir V
authors.identifier: 0000-0003-1050-9081
authors.initials: VV
authors.lastname: Anokhin
authors.affiliation: Republican Center for the Prevention and Fighting of AIDS and Infectious Diseases, Ministry of Health of the Republic of Tatarstan, 2a Vishevskogo St., Kazan 420097, Russia.
authors.forename: Liliia B
authors.initials: LB
authors.lastname: Bakhteeva
authors.affiliation: Kazan State Medical University, 49 Butlerova St., Kazan 420012, Russia; Republican Clinical Hospital for Infectious Disease named after Agafonov, 83 Prospect Pobedy St, Kazan 420140, Russia.
authors.forename: Gulshat R
authors.initials: GR
authors.lastname: Khasanova
authors.affiliation: Kazan Federal University, 18 Kremlyovskaya St., Kazan 420008, Russia; Department of Biochemistry, University of Nevada, Reno, 1664 N. Virginia Street MS 0330, Reno, NV 89557, USA.
authors.forename: Svetlana F
authors.identifier: 0000-0002-5064-570X
authors.initials: SF
authors.lastname: Khaiboullina
authors.affiliation: Kazan Federal University, 18 Kremlyovskaya St., Kazan 420008, Russia.
authors.forename: Ekaterina V
authors.identifier: 0000-0003-1537-3099
authors.initials: EV
authors.lastname: Martynova
authors.affiliation: Nevada Center for Biomedical Research, University of Nevada, Reno, 1664 N. Virginia Street MS 0552, Reno, NV 89557, USA.
authors.forename: Richard L
authors.initials: RL
authors.lastname: Tillett
authors.affiliation: Nevada Center for Biomedical Research, University of Nevada, Reno, 1664 N. Virginia Street MS 0552, Reno, NV 89557, USA.
authors.forename: Karen A
authors.initials: KA
authors.lastname: Schlauch
authors.affiliation: Kazan Federal University, 18 Kremlyovskaya St., Kazan 420008, Russia; Nevada Center for Biomedical Research, University of Nevada, Reno, 1664 N. Virginia Street MS 0552, Reno, NV 89557, USA.
authors.forename: Vincent C
authors.identifier: 0000-0003-4474-8662
authors.initials: VC
authors.lastname: Lombardi
authors.affiliation: Kazan Federal University, 18 Kremlyovskaya St., Kazan 420008, Russia.
authors.forename: Albert A
authors.identifier: 0000-0002-9427-5739
authors.initials: AA
authors.lastname: Rizvanov
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA; D019562:Viral Load / Q000235:genetics; D055815:Young Adult