Summary of studies examining the effect of MBL on HIV transmission or disease progression

Study type and descriptionReference
HIV transmission
    XA/XA haplotype in Argentinean children associated with ∼8-fold risk of acquiring HIV-1 (P = 0.054; OR, 8.11)278
    H promoter allele (−550) more frequent in prenatally HIV-exposed but uninfected Italian children than in infected
        children (48% vs 31%; P = 0.214)37
    Eight (8%) of the HIV-infected men were homozygous for the variant MBL alleles, compared with one (0.8%) of the
        healthy controls (P = 0.005) and 0% of high-risk controls (P = 0.05)150
    Frequency of MBL deficiency was significantly increased in HIV-infected patients compared with controls
        (12.1% and 3.5%, respectively)154
    Promoter (−550 [H/L] and −221 [X/Y]) alleles examined in a Brazilian population; CD4+ counts lower and viral load
        higher among seropositive patients with haplotypes LY, LX, and HX (intermediate to low MBL levels) than among
        those with HY (high MBL) haplotype (P < 0.05)463
    MBL concentrations significantly lower in asymptomatic HIV patients (P < 0.05) than in seronegative controls; very low
        (≤25 ng/ml) MBL serum concentrations were detected in 5/19 (26.3%) and 7/75 (9.3%) asymptomatic HIV-seropositive
        and HIV-seronegative individuals, respectively (P = 0.06)361
    Homozygosity for the MBL variant alleles was significantly higher in the HIV-1-infected group339
    No association between MBL alleles B, C, and D and susceptibility to HIV-1 infection (P = 1.0) in
        278 HIV+ Columbians and controls273
    The mutant MBL G57E allele (either homozygous or compound heterozygous) is associated with susceptibility to HIV-1
        infection in the Gabonese population (P = 0.019)305
    Study of 145 HIV-1-infected subjects and 99 healthy controls showed the presence of alleles MBL*A, MBL*B, and
        MBL*D, whose frequencies were 69%, 22%, and 09% among patients and 71%, 13%, and 16% among healthy controls
        respectively; the presence of the variant MBL*B was associated with higher plasma viral load levels, suggesting the
        importance of the MBL gene polymorphism in the clinical evolution of HIV-1-infected patients462
HIV disease progression
    B variant allele present in 52% of children with rapidly progressing disease compared to 18.5% in
        slow progressors (P = 0.011)8
    Study examined effects of mbl2 alleles on HIV-1 disease progression and CNS impairment in children; children <2 years
        with MBL2-O/O (low MBL) experienced more rapid disease progression (O/O vs A/A, relative hazard [RH] = 1.54 and
        P = 0.02; O/O vs A/O, RH = 2.28 and P = 0.029) and rapid progression to CNS impairment (O/O vs A/A, RH = 2.78
        and P = 0.027; O/O vs A/O, RH = 1.69 and P = 0.035)406
    Heterozygosity for coding mutations (O allele) delays disease progression; homozygosity for the −221 promoter
        polymorphism (X allele) accelerates rate of disease progression59
    Effect of MBL-2 polymorphisms on susceptibility and progression of HIV-1 infection in children; analysis of MBL-2
        genotypes with respect to clinical classification (CDC clinical classification A, B, or C) yielded minimal differences;
        immunological categories 2 and 3 (<25% CD4+ T cells) were more likely to have MBL-2 variant alleles (P = 0.01);
        only 1/10 long-term nonprogressors had an MBL-2 mutation (A/D) with a corresponding protein level of 611 ng/ml103
    Homozygous promoter H/H (−550; high MBL) more frequent in Italian children with rapid progression (23%) than in
        slow progression (5%; P = 0.0194)37
    Median survival time shorter after AIDS diagnosis for men who carried variant alleles (both homozygous and
        heterozygous) than for men homozygous for the normal MBL allele (11 vs 18 mo; P = 0.007)150
    XA/XA haplotype in Argentinean children associated with ∼3-fold risk of progression to pediatric AIDS (P = 0.026;
        OR, 2.81); independent positive correlation between the rate of AIDS progression and MBL plasma concn
        (P = 0.008; OR, 1.28).278
    2.5-yr follow-up of 80 HIV+ Danish patients; no difference in death rates in persons with high (>650 ng/ml), intermediate
        (101-650 ng/ml), and low (<101 ng/ml) MBL levels; no association between MBL level and decline in CD4+ T
        cells or length of time between HIV+ diagnosis and development of AIDS322
    HIV-1-infected men with the variant alleles progressed more slowly to AIDS (RH, 0.62) and death (RH, 0.73); CD4+
        T-cell count determined at time of AIDS diagnosis was lower among persons with the mutation (97/mm3 vs 204/mm3;
        P = 0.03)263