title: HS1,2 Ig enhancer alleles association to AIDS progression in a pediatric cohort infected with a monophyletic HIV-strain.
abstract: Alteration in the humoral immune response has been observed during HIV infection. The polymorphisms of enhancer HS1,2, member of the 3(') regulatory region of the Ig heavy chain cluster, may play a role in the variation of the humoral response leading to pathological conditions. To assess the role of the HS1,2 polymorphic variants in the progression of AIDS, the HS1,2-A allelic frequencies were investigated in a cohort of HIV infected pediatric subjects from a nosocomial outbreak with a monophyletic strain of HIV. From a total group of 418 HIV infected children in the outbreak cohort, 42 nonprogressors and 31 progressors without bias due to antiretroviral therapy were evaluated. HS1,2 allele (∗)1 has been associated with nonprogressors (allelic frequency: 51.19% versus 33.87% in progressors, OR 0.5, and P = 0.0437), while allele (∗)2 has been associated with progression (allelic frequency: 48.39% versus 30.95% in nonprogressors, OR 2.1, and P = 0.0393). Further, only subjects carrying allele (∗)2 in absence of allele (∗)1, either in homozygous condition for allele (∗)2 [nonprogressors 2/42 (4.76%), Progressors 7/31 (22.58%), OR 5.8, and P = 0.0315] or in combination with other allelic variants [nonprogressors 7/42 (16.67%), Progressors 13/31 (41.93%), OR 3.61, and P = 0.0321], have been associated with HIV progression to AIDS. In conclusion, while the HS1,2 allele (∗)1 has a protective effect on HIV progression when present, allele (∗)2 is associated with progression toward AIDS when allele (∗)1 is absent.
authors.affiliation: Department of Biology, University of Rome "Tor Vergata," 00133 Rome, Italy.
authors.forename: Carla
authors.identifier: 0000-0002-9865-6619
authors.initials: C
authors.lastname: Montesano
authors.affiliation: Department of Biology, University of Rome "Tor Vergata," 00133 Rome, Italy ; Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, BC, Canada V5Z 1L3.
authors.forename: Vincenzo
authors.identifier: 0000-0003-2607-2080
authors.initials: V
authors.lastname: Giambra
authors.affiliation: Department of Biology, University of Rome "Tor Vergata," 00133 Rome, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Frezza
authors.affiliation: University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Children's Hospital "Bambino Gesù," 00165 Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Palma
authors.affiliation: Istituto Mario Negri Sud, 66030 Chieti, Italy.
authors.forename: Eliseo
authors.identifier: 0000-0002-4582-9731
authors.initials: E
authors.lastname: Serone
authors.affiliation: International Training Unit, Children's Hospital "Bambino Gesù," 00165 Rome, Italy.
authors.forename: Guido Castelli
authors.initials: GC
authors.lastname: Gattinara
authors.affiliation: Department of Biology, University of Rome "Tor Vergata," 00133 Rome, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Mattei
authors.affiliation: San Pietro Fatebenefratelli Hospital, 00189 Rome, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Mancino
authors.affiliation: Department of Biology, University of Rome "Tor Vergata," 00133 Rome, Italy.
authors.forename: Vittorio
authors.identifier: 0000-0003-0007-8580
authors.initials: V
authors.lastname: Colizzi
authors.affiliation: Department of Biomedicine and Prevention, University of Rome "Tor Vergata," 00133 Rome, Italy ; ProxAgen Ltd., 1505 Sofia, Bulgaria.
authors.forename: Massimo
authors.initials: M
authors.lastname: Amicosante
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018450:Disease Progression; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D005260:Female; D015497:HIV-1; D006801:Humans; D056724:Immunity, Humoral / Q000235:genetics*; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007223:Infant; D008297:Male
chemical_list: D007143:Immunoglobulin Heavy Chains