Ficolins and the Recognition of Pathogenic Microorganisms: An Overview of the Innate Immune Response and Contribution of Single Nucleotide Polymorphisms

Table 2

Single nucleotide polymorphisms in ficolin genes contributing to pathophysiology and colonization.

Ficolin gene	rs number	Position	Gene region	Amino acid change	Reference
M-ficolin (FCN1)	rs2989727	-1981G>A	Promoter	—	[93, 94]
	rs10120023	-542G>A	Promoter	—	[95]
	rs10117466	-144C>A	Promoter	—	[95]
	rs148669884	+6658G>A	Exon 8	Ala218Thr	[93]
	rs150625869	+7895T>C	Exon 9	Ser268Pro	[93]
	rs1071583	+7918G>A	Exon 9	Gln275Gln	[94]
	rs138055828	+7959A>G	Exon 9	Asn289Ser	[93]
L-ficolin (FCN2)	rs3124952	-986G>A	Promoter	—	[111, 112]
	rs3124953	-602G>A	Promoter	—	[103]
	rs3811140	-557A>G	Promoter	—	[104, 106]
	rs28969369	-64A>C	Promoter	—	[96, 104]
	rs175141136	-4A>G	Promoter	—	[103, 111, 112]
	rs17549193	+6359C>T	Exon 8	Thr236Met	[96, 98–100, 108]
	rs7851696	+6424G>T	Exon 8	Ala258Met	[96, 97, 102, 104, 106, 110]
H-ficolin (FCN3)	rs28357092	+1637CdC	Exon 5	Leu117fs	[113, 114]
	rs4494157	+4473C>A	Intron 7	—	[107]