We found that (i) the prevalence of the common variant MBL alleles is correlated with the incidence of tuberculosis in sub-Saharan Africa (r=0.565), (ii) the mutant MBL G57E allele, in either the homozygous or compound heterozygous state, is associated with susceptibility to HIV-1 infection in the Gabonese population (P=0.019).Our data plus those in the literature suggest that individuals who are homozygous for the mutant MBL alleles display increased susceptibility to infections.
In analyses stratified by ethnicity, rs7096206 (C/G: OR = 1.31, 95% CI: 1.10-1.57, <i>p</i> = 0.003; GG vs. GC + CC: OR = 0.69, 95% CI: 0.56-0.85, <i>p</i> < 0.001) and A/O (O/A: OR = 1.34, 95% CI: 1.10-1.64, <i>p</i> = 0.004) were associated with tuberculosis risk in Asians, A/O (AA vs. AO + OO: OR = 0.71, 95% CI: 0.51-0.99, <i>p</i> = 0.041) and rs1800451 (AC vs. AA + CC: OR = 2.70, 95% CI: 1.27-5.74, <i>p</i> = 0.010) were associated with tuberculosis risk in Americans, and rs1800451 (C/A: OR = 0.92, 95% CI: 0.86-0.99, <i>p</i> = 0.035) was associated with tuberculosis risk in Africans.
In conclusion, MBL2 rs1800450 and rs1800451 polymorphisms play a protective role in TB infection and reinforce their critical significance as a potential genetic marker for TB resistance.
Assuming a recessive mode of inheritance, we found a protective association between TB and the MBL2 G57E variant (odds ratio 0.60, confidence interval 0.4-0.9, P 0.008) and the corresponding LYQC haplotype (P(corrected) 0.007) which applied, however, only to TB caused by M. africanum but not to TB caused by M. tuberculosis.
Many studies have investigated the association between MBL2 exon 1 polymorphisms (rs1800450, rs1800451, and rs5030737) and TB risk, but yielded inconclusive results.
However, the association of codon 54 (rs1800450) with medium vessel vasculitis suggests that it may be a genetic modifier of clinical phenotype in SLE.
To examine potential associations of mannose-binding lectin alleles G57E, G54D, IVSnt5, R52C and R52H with susceptibility to and clinical expression of systemic lupus erythematosus in southern Brazilian patients, we conducted a case-control study with 327 consecutive patients with diagnosis of systemic lupus erythematosus and 345 healthy controls.
The aim of this study was to determine whether the functional mannose-binding lectin (MBL2) exon 1 codon 54 polymorphism (rs1800450) confers susceptibility to systemic lupus erythematosus (SLE) in ethnically different populations.
This is a pilot study to investigate the role of MBL2-550G/C (H/L), -221G/C (Y/X), Arg52Cys (D), Gly54Asp (B), Gly57Glu (C) polymorphisms and MBL serum levels as a risk factor for a development of adult DM and SLE in Bulgarian patients.
Two variants, a promoter SNP (rs11003125) at -550 bp with a risk allele frequency of 0.77 and a Gly54Asp (rs1800450) with a risk allele frequency of 0.83, were associated with type 2 diabetes in the full-heritage Pima Indians (odds ratio 1.30 per copy of the G allele for rs1103125, P = 0.0007, and 1.30 per copy of the glycine allele for rs1800450, P = 0.002, adjusted for age, sex, birth year, and family membership).
The rs1800450 and rs11003125 SNPs of the MBL2 gene have strong linkage disequilibrium and are associated with type 2 diabetes in the North Chinese Han population.
The study has shown that the rs292001 C1q but not the rs11003125 MBL2 SNP are associated with increased risk for T2D susceptibility in the Cretan population.
However, the other genetic models of rs1800450 (A>B), rs7096206 (Y>X), and rs11003125 (H>L) MBL2 gene polymorphisms did not divulge any association with PTB susceptibility.
X/Y (rs7096206) and A/B (rs1800450) were genotyped in 765 new patients with active pulmonary TB without HIV infection and 556 controls in Hanoi, Viet Nam.
The overall results indicated that the MBL-2 rs1800450 (54 A/B) and rs5030737 (52 A/D) polymorphisms were risk factors for PTB, but the MBL-2 rs1800451 (57 A/C) and rs7095891 (+4 P/Q) polymorphisms as protective factors against PTB.
The overall results indicated that the MBL-2 rs1800450 (54 A/B) and rs5030737 (52 A/D) polymorphisms were risk factors for PTB, but the MBL-2 rs1800451 (57 A/C) and rs7095891 (+4 P/Q) polymorphisms as protective factors against PTB.
Assuming a recessive mode of inheritance, we found a protective association between TB and the MBL2 G57E variant (odds ratio 0.60, confidence interval 0.4-0.9, P 0.008) and the corresponding LYQC haplotype (P(corrected) 0.007) which applied, however, only to TB caused by M. africanum but not to TB caused by M. tuberculosis.
Passive smoking, cooking with solid fuel, and polymorphisms of MBL (rs7096206) and MASP-2 (rs6695096) genes were associated with susceptibility to TB in non-smokers, and there were gene-environment interactions among them.
The aim of our study was to determine the prevalence of MBL-2 polymorphism (rs7096206) in hepatitis C virus (HCV)-induced hepatocellular carcinoma (HCC) based on histological analysis of explanted livers in patients undergoing liver transplantation (LT).
Polymorphisms of MBL (rs7096206) and MASP-2 (rs2273346 and rs6695096) were associated with the susceptibility of TB, and there were gene-gene interactions among them.
Our findings suggest that the MBL2 polymorphism rs7096206 is associated with HCC susceptibility and has the potential to serve as a biomarker to detect populations at increased HCC risk.
In analyses stratified by ethnicity, rs7096206 (C/G: OR = 1.31, 95% CI: 1.10-1.57, <i>p</i> = 0.003; GG vs. GC + CC: OR = 0.69, 95% CI: 0.56-0.85, <i>p</i> < 0.001) and A/O (O/A: OR = 1.34, 95% CI: 1.10-1.64, <i>p</i> = 0.004) were associated with tuberculosis risk in Asians, A/O (AA vs. AO + OO: OR = 0.71, 95% CI: 0.51-0.99, <i>p</i> = 0.041) and rs1800451 (AC vs. AA + CC: OR = 2.70, 95% CI: 1.27-5.74, <i>p</i> = 0.010) were associated with tuberculosis risk in Americans, and rs1800451 (C/A: OR = 0.92, 95% CI: 0.86-0.99, <i>p</i> = 0.035) was associated with tuberculosis risk in Africans.
Collectively, this meta-analysis proved that VDR rs7975232, VDR rs2228570, VEGF rs699947, VEGF rs3025039, IL-18 rs1946518, and MBL rs7096206 polymorphisms may confer susceptibility to HCC in certain populations.
However, the other genetic models of rs1800450 (A>B), rs7096206 (Y>X), and rs11003125 (H>L) MBL2 gene polymorphisms did not divulge any association with PTB susceptibility.