rs333

CCR5 ∆32 (rs333) polymorphism is associated with increased susceptibility to systemic lupus erythematosus in female Brazilian patients. Heterozygous (CCR5/CCR5∆32) and homozygous (CCR5∆32/CCR5∆32) carriers showed significantly higher frequencies compared to healthy controls (11.8% vs 3.8% in controls, OR 3.604, 95% CI 1.321-9.836, p=0.0081). The association was stronger in Caucasian patients (OR 3.933, 95% CI 1.109-13.95, p=0.0286).

First genome-wide association study (GWAS) of HIV-associated neurocognitive disorders (HAND) in 1287 HIV-infected adults from the Multicenter AIDS Cohort Study. The study examined neurocognitive decline in processing speed and executive functioning over time, as well as prevalence of HIV-associated dementia and neurocognitive impairment across ~2.5 million SNPs. No genome-wide significant associations were identified with any neurocognitive phenotype examined. Previously reported candidate gene associations with HAND (including rs1130371 in MIP1α, rs1800629 in TNFα, rs1801157 in SDF-1, and rs2839619 in PREP1) were not validated in this study.

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

A review article examining the genetic basis of COVID-19 susceptibility and protection from a longevity model perspective. The authors propose that genetic variants in the renin-angiotensin system (ACE, ACE2, AT1R, ANGIOTENSINOGEN), innate immunity genes (TLR4, CCR5, Connexin37), inflammatory cytokines (IL-6, IL-10, TNF-α, IFN-γ), and coagulation factors (PAI-1, Factor V) may influence COVID-19 outcomes, with long-lived individuals (nonagenarians/centenarians) serving as a model for identifying protective genetic profiles.