Table 2. - MASP2 gene polymorphisms associated with MASP-2 and MAp19 serum levels.
| dbSNP | Allele | Gene and protein region | Amino acid position | AF Brazilian¹ % | AF AFR % | AF EUR % | AF EAS % | Serum levels* |
|---|---|---|---|---|---|---|---|---|
| rs7548659 | G>T | Promoter - n.a | n.a. | 29.3 | 82.8 | 21.9 | 26.1 | high MASP-2 and low MAp19 concentration (Boldt et al., 2013) |
| rs61735600 | C>T | Exon 3 - CUB1 | p.R99Q | 1.3 | 7.1 | 0 | 0 | high MASP-2 concentration (Thiel et al., 2007) |
| rs72550870 | T>C | Exon 3 - CUB1 | p.D120G | 1.4 | <1 | 3.9 | 0 | low MASP-2 and MAp19 concentration (Stengaard-Pedersen et al., 2003; Sørensen et al., 2005; Thiel et al., 2007; Boldt et al., 2013) |
| rs56392418 | C>T | Exon 3 - CUB1 | p.P126L | 0.5 | 13.2 | 0 | 0 | low MASP-2 concentration (Thiel et al., 2009) |
| rs2273343 | T>C | Exon 4 - EGF | p.H155R | n.o. | 0 | 0 | 2.7 | low MASP-2 concentration (Thiel et al., 2009) |
| rs2273344 | C>T | Intron 4 - n.a | n.a. | 18.6 | 10.1 | 20.4 | 11.8 | high MASP-2 and low MAp19 concentration (Boldt et al., 2013) |
| rs9430347 | G>A | Intron 5 - n.a | n.a. | 18.6 | 9.2 | 20.4 | 11.6 | high MASP-2 and low MAp19 concentration (Boldt et al., 2013) |
| rs17409276 | G>A | Intron 9 - n.a | n.a. | 14.7 | 16.6 | 13.8 | 13.6 | high MASP-2 and low MAp19 concentration (Boldt et al., 2013) |
| rs12711521 | C>A | Exon 10 - CCP2 | p.D371Y | 22.9 | 82.9 | 18 | 33.4 | high MASP-2 and low MAp19 concentration (Boldt et al., 2013) |
| rs2273346 | A>G | Exon 10 - CCP2 | p.V377A | 3.4 | 17.1 | 2 | 19.8 | low MASP-2 concentration (Thiel et al., 2007; Thiel et al., 2009) |
| rs12085877 | G>A | Exon 12 - SP | p.R439H | 0.1 | 10.4 | 0 | 0 | low MASP-2 concentration (Thiel et al., 2009) |
| rs1782455 | G>A | Exon 12 - SP | p.S493= | 19.5 | 70.3 | 16 | 13.5 | high MASP-2 and low MAp19 concentration (Boldt et al., 2013) |
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, EGF: epidermal growth factor. *Homozygote of the allele effect. Alleles in bold are considered the minor AF in global population and the 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=MASP2&tissueName=All). ¹data from predominantly Euro-Brazilian healthy volunteers (Boldt et al., 2016a). Table modified from Boldt et al., 2016a.