Table 1 -. MASP1 gene polymorphisms associated with MASP-1, MASP-3, and MAp44 serum levels.
| dbSNP | Allele | Gene and protein region | Amino acid position | AF Brazilian¹ % | AF AFR % | AF EUR % | AF EAS % | Serum levels* |
|---|---|---|---|---|---|---|---|---|
| rs190590338 | G>A | Promoter - n.a | n.a. | n.o. | 0 | <1 | 0 | Higher MASP-1 levels in G/A (Ammitzbøll et al., 2013) |
| rs7625133 | A>C | Promoter - n.a | n.a. | n.o. | 2.4 | 6.4 | <1 | Lower MAp44 levels in A/C and C/C (Ammitzbøll et al., 2013) |
| rs35089177 | T>A | Promoter - n.a | n.a. | n.o. | 6.3 | 34.3 | 38 | Lower MASP-1 and MAp44 levels in T/A and AA (Ammitzbøll et al., 2013) |
| rs75284004 | A>G | Promoter - n.a | n.a. | n.o. | <1 | 4.1 | <1 | Lower MASP-3 levels in A/G (Ammitzbøll et al., 2013) |
| rs62292785 | G>A | Promoter - n.a | n.a. | n.o. | 4.8 | 5.6 | 18.8 | Lower MASP-1 levels in G/A (Ammitzbøll et al., 2013) |
| rs72549254 | G>A | Intron 1 - n.a | n.a. | 13.3 | 21.9 | 13.9 | 11.7 | Higher MASP-3 levels in A/G (Ammitzbøll et al., 2013) Lower MAp44 levels in A/G and A/A (Ammitzbøll et al., 2013) Lower MAp44 levels in G/G (Krogh et al., 2017) |
| rs710469 | C>T | Intron 2 - n.a | n.a. | n.o. | 35.4 | 50.5 | 51.1 | Higher on-admission MASP-3 levels in critically ill children with T/T (Ammitzbøll et al., 2013) |
| rs3774275 | A>G | Intron 8 - n.a | n.a. | 18.5 | 2.1 | 30.8 | 41.8 | Higher MASP-1, Map44 and lower MASP-3 levels in A/G and G/G (Ammitzbøll et al., 2013) Lower MASP-1 and MAp44 levels in A/A (Krogh et al., 2017) |
| rs113938200 | C>T | Exon 9 - C-terminal MAp-44 | p.Asn368Asp | <1 | 0 | <1 | 0 | Lower MAp44 levels in C/T (Ammitzbøll et al., 2013) |
| rs698090 | C>T | Exon 9 - 3’UTR Map-44 | n.a. | 37.4 | 62.4 | 35.8 | 37.6 | Higher MASP-1, MAp44 and lower MASP-3 levels in C/C (Ammitzbøll et al., 2013) Higher MAp44 levels in C/T (Ammitzbøll et al., 2013) |
| rs72549154 | G>T | Exon 12 - SP MASP-3 | p.Arg576Met | <1 | 15.1 | 2.5 | <1 | Lower MASP-1 levels in G/T (Ammitzbøll et al., 2013) |
| rs850312 | G>A | Exon 12 - CCP2 MASP-3 | p.Leu617Leu | 27.2 | 2.6 | 34.8 | 20.3 | Higher on-admission MASP-3 levels in critically ill children with A/A, A/G (Ammitzbøll et al., 2013) Lower MASP-3 and higher Map44 levels in G/G (Krogh et al., 2017) |
| rs67143992 | G>A | Exon12 - 3’ UTR MASP-3 | n.a. | 12.9 | 1.4 | 16.9 | 4.5 | Higher MASP-1, MAp44 and lower of MASP-3 levels in G/A (Ammitzbøll et al., 2013) Higher MAp44 and lower MASP-3 levels in A/A (Ammitzbøll et al., 2013) Lower MASP-3 levels in A/A (Krogh et al., 2017) |
| rs874603 | G>A | 3’ UTR MASP-3 | n.a. | 12.4 | 36.2 | 5.7 | 0.8 | Higher MASP-3 levels in G/A (Krogh et al., 2017) |
dbSNP: Single Nucleotide Polymorphism Database; n.o.: no data; n.a.: not applicable; AF: allele frequency of 1000 genomes project from AFR, EUR and EAS; AFR: African, EUR: European, and EAS: East Asian (data accessed on: https://www.ensembl.org/index.html); CCP: Complement Control Protein; SP: Serine Protease; UTR: untranslated. *compared to the homozygote state of the other allele. Alleles in bold are considered the minor alleles in the global population. Serum levels are related to this allele. SNPs in bold are considered expression quantitative trait loci (eQTLs), due to their association with mRNA expression. (http://www.gtexportal.org/home/eqtls/byGene?geneId=MASP1&tissueName=All) ¹data from ABraON (http://abraom.ib.usp.br/index.php). Table modified from Boldt et al., 2016a.