Genetic variation in lipid desaturases and its impact on the development of human disease

Merino, Diana M; Ma, David WL; Mutch, David M

doi:10.1186/1476-511X-9-63

Lipids in Health and Disease

Table 1 Summary of SNP-trait associations identified for Fads1 and Fads2

From: Genetic variation in lipid desaturases and its impact on the development of human disease

dbSNP ID	Gene, Region	Allele (M/m)	Population Size & Ethnicity	Association findings	Ref
*Fads1*
rs174537	Fads1 intron	G/T	n = 1453, Caucasian (ITA) n = 1120, Caucasian (USA)	GG < GT&TT: ↑LA, ALA; ↓EDA, AA, EPA, LDL-C & total cholesterol in serum	[61]
rs174544	Fads1 3' UTR	C/A	n = 727, Caucasian (GER)	CC < CA < AA: ↑LA, EDA, DGLA & ALA; ↓GLA, AA, DTA, EPA & DPA in serum	[49]
rs174546	Fads1 3' UTR	C/T	n = 1144, Caucasian (EUR)	CC < CT < TT: ↑LA, DGLA, ALA; ↓AA, EPA, DHA in serum CC < CT&TT: ↓GLA in serum	[60]
rs174545	Fads1 3' UTR	C/G	n = 876, Caucasian (ITA)	CC < CG < GG: ↑AA, AA/LA, EPA/ALA; ↓LA, ALA in RBC	[51]
			n = 658, Caucasian (ITA)	CC < CG < GG: ↑AA; ↓ALA, EDA in serum and RBC	[57]
rs174547	Fads1 intron	T/C	n = 1809, Caucasian (GER)	TT < TC < CC: ↑PC aa C36:3/PC aa C36:4	[65]
			n = 422, Caucasian (UK)	TT < TC < CC: ↑PC aa C36:3/PC aa C36:4	[65]
rs174553	Fads1 intron	A/G	n = 727, Caucasian (GER)	AA < AG < GG: ↑LA, EDA, DGLA & ALA; ↓GLA, AA, DTA, EPA & DPA in serum	[49]
			n = 69, 74% Caucasian (CAN)	AA < AG&GG: ↑LA; ↓AA in plasma and RBC during gestation	[68]
			n = 54, 74% Caucasian (CAN)	AA < AG < GG: ↑EDA; ↓AA, EPA, DPA in breast milk	[68]
rs174556	Fads1 intron	C/T	n = 727, Caucasian (GER)	CC < CT < TT: ↑LA, EDA, DGLA & ALA in serum; ↓GLA, AA, DTA, EPA & DPA in serum	[49]
			n = 658, Caucasian (ITA)	CC < CT < TT: ↑EDA in serum & RBC; ↓AA in serum & RBC	[57]
rs174561	Fads1 intron CpG-island, promoter region	T/C	n = 727, Caucasian (GER)	TT < TC < CC: ↑LA, EDA, DGLA, ALA in serum; ↓GLA, AA, DTA, EPA & DPA in serum	[49]
			n = 658, Caucasian (ITA)	TT < TC < CC: ↑EDA in serum & RBC; ↓AA in serum & RBC	[57]
			n = 309, Caucasian (DUT)	TT < TC < CC: ↑GA, EA LA, EDA, DGLA; ↓GLA, AA, DTA, DHA in plasma phospholipids TT < TC < CC: ↑DGLA; ↓AA, DTA, EPA, DHA in breast milk	[67]
*Fads2*
rs174570	Fads2 intron	C/T	n = 727, Caucasian (GER)	CC < CT&TT: ↑EDA in serum; ↓GLA, AA, DTA in serum	[49]
			n = 876, Caucasian (ITA)	CC < CT < TT: ↑LA, ALA in RBC; ↓AA, AA/LA in RBC	[51]
			n = 658, Caucasian (ITA)	CC < CT < TT: ↑LA in RBC, ↓AA in serum & RBC	[57]
			n = 1144, Caucasian (EUR)	CC < CT < TT: ↑LA, ALA; ↓AA in serum CC < CT&TT: ↓GLA in serum	[60]
rs174572	Fads2 intron	C/T	n = 1144, Caucasian (EUR)	CC < CT < TT: ↑LA, DGLA, ALA; ↓AA, EPA in serum CC < CT&TT: ↓GLA, DHA in serum	[60]
rs174575	Fads2 intron	C/G	n = 54, 74% Caucasian (CAN)	CC < CG&GG: ↓AA, EPA, DPA & DHA in breast milk	[68]
			n = 309, Caucasian (DUT)	CC < CG < GG: ↑GA, LA, EDA, DGLA; ↓AA, DTA, DHA in plasma phospholipids CC < CG < GG: ↑DGLA; ↓PEA, AA, DTA, EPA, DPA in breast milk	[67]
rs174583	Fads2 intron	C/T	n = 727, Caucasian (GER)	CC < CT < TT: ↑LA, EDA, DGLA & ALA in serum; ↓GLA, AA, DTA, EPA & DPA in serum	[49]
			n = 876, Caucasian (ITA)	CC < CT < TT: ↑LA, ALA in RBC; ↓AA, AA/LA, EPA/ALA in RBC	[51]
			n = 658, Caucasian (ITA)	CC < CT < TT: ↑ALA, EDA, LA in serum & RBC; ↓AA in serum & RBC	[57]
rs174589	Fads2 exon/intron boundary	G/C	n = 727, Caucasian (GER)	GG < GC < CC: ↑LA, EDA & DGLA in serum; ↓GLA, AA, EPA & DPA in serum	[49]
			n = 876, Caucasian (ITA)	GG < GC&CC: ↑AA, AA/LA in RBC; ↓LA, EPA/ALA in RBC	[51]
			n = 658, Caucasian (ITA)	GG < GC < CC: ↑AA, in serum & RBC, ↓EDA in serum	[57]
			n = 1144, Caucasian (EUR)	GG < GC < CC: ↑LA, DGLA, ALA; ↓AA, EPA in serum GG < GC&CC: ↓GLA in serum	[60]
rs174602	Fads2 exon/intron boundary	A/G	n = 727, Caucasian (GER)	AA < AG < GG: ↑LA, EDA in serum; ↓AA in serum	[49]
			n = 1144, Caucasian (EUR)	AA < AG < GG: ↑LA, ALA; ↓AA, EPA in serum	[60]
rs174611	Fads2 intron	T/C	n = 876, Caucasian (ITA)	TT < TC < CC: ↑LA, ALA in RBC; ↓AA, AA/LA, EPA/ALA in RBC	[51]
			n = 658, Caucasian (ITA)	TT < TC < CC: ↑EDA in serum ↓AA in serum & RBC	[57]
			n = 1144, Caucasian (EUR)	TT < TC < CC: ↑LA, DGLA, ALA; ↓AA in serum TT < TC&CC: ↓GLA, EPA in serum	[60]
rs174616	Fads2 intron	G/A	n = 1144, Caucasian (EUR)	GG < GA < AA: ↑LA, DGLA; ↓AA in serum GG < GA&AA: ↑ALA; ↓EPA, DHA in serum	[60]
rs174620	Fads2 intron	T/C	n = 727, Caucasian (GER)	TT < TC < CC: ↑DGLA in serum; ↓AA in serum	[49]
rs2072114	Fads2 exon/ intron boundary	A/G	n = 727, Caucasian (GER)	AA < AG&GG: ↑ LA, EDA in serum; ↓GLA, AA, DTA in serum	[49]
			n = 1144, Caucasian (EUR)	AA < AG < GG: ↑LA, DGLA, ALA; ↓AA in serum AA < AG&GG: ↓GLA in serum	[60]
rs2524299	Fads2 intron	A/T	n = 876, Caucasian (ITA)	AA < AT < TT: ↑LA in RBC; ↓AA, AA/LA in RBC	[51]
			n = 658, Caucasian (ITA)	AA < AT < TT: ↓AA in serum and RBC	[57]
rs482548	Fads2 3' UTR	C/T	n = 727, Caucasian (GER)	CC < CT&TT: ↑AA, DTA in serum	[49]
rs498793	Fads2 intron	G/A	n = 658, Caucasian (ITA)	No significant association found with lipid species in serum or RBC	[57]
			n = 1144, Caucasian (EUR)	GG < GA < AA: ↑AA; ↓LA in serum GG < GA&AA: ↑EPA in serum	[60]
rs526126	Fads2 exon/ intron boundary	G/C	n = 727, Caucasian (GER)	GG < GC < CC: ↑DGLA in serum	[49]
			n = 1144, Caucasian (EUR)	GG < GC < CC: ↑LA, ALA; ↓AA in serum	[60]
rs968567	Fads2 5'UTR	C/T	n = 1144, Caucasian (EUR)	CC < CT < TT: ↑LA, DGLA, ALA; ↓AA, EPA CC < CT&TT: ↓GLA in serum	[60]
rs99780	Fads2 intron	C/T	n = 727, Caucasian (GER)	CC < CT < TT: ↑levels of LA, EDA, DGLA, ALA in serum; ↓GLA, AA, EPA, DPA in serum	[49]
*Intergenic*
rs174627	Fads2/Fads3 Intergenic	C/T	n = 876, Caucasian (ITA)	CC < CT < TT: ↑LA, ALA in RBC; ↓AA, AA/LA, EPA/ALA in RBC	[51]
			n = 658, Caucasian (ITA)	CC < CT < TT: ↑EDA, AA in serum	[57]
rs17831757	Fads2/Fads3 Intergenic	T/C	n = 658, Caucasian (ITA)	TT < TC&CC: ↓AA in serum	[57]
rs3834458	Fads1/Fads2 intergenic, CpG-island	T/del*	n = 727, Caucasian (GER)	TT < T/del < del/del: ↑LA, EDA, DGLA, ALA in serum; ↓GLA, AA, DTA, EPA, DPA in serum	[49]
			n = 1694 (case), Caucasian (ITAL)	TT < T/del < del/del: ↑ETE & EDA in adipose tissue; ↑ plasma TG; ↓EPA, GLA & AA in adipose tissue	[58]
			n = 876, Caucasian (ITA)	TT < T/del & del/del: ↑LA, ALA; ↓AA, AA/LA, EPA/ALA in RBC	[51]
			n = 658, Caucasian (ITA)	TT < T/del < del/del: ↑ALA, EDA in serum; ↑LA, EDA in RBC; ↓AA in serum and RBC	[57]
			n = 309, Caucasian (DUT)	TT < T/del < del/del: ↑GA, EA, LA, EDA, DGLA; ↓GLA, AA, DTA, DHA in plasma phospholipids TT < T/del < del/del: ↑LA, DGLA; ↓AA, DTA, EPA, DPA, DHA in breast milk	[67]
rs968567	Fads1/Fads2 intergenic, CpG-island, promoter region	G/A	n = 727, Caucasian (GER)	GG < GA&AA: ↑LA, DGLA in serum; ↓GLA, AA, EPA & DPA in serum	[49]

Several SNPs have been examined in Fads1 and Fads2; however, only significant associations (p < 0.05) are listed in this table. Associations between Fads genes and several fatty acids have been identified, including: palmitelaidic acid (PEA, C16:1n-7), gadoleic acid (GA, C20:1n-9), erucic acid (EA, C22:1n-9), linoleic acid (LA, C18:2n-6), γ-linoleic acid (GLA, C18:3n-6), eicosadienoic acid (EDA, C20:2n-6), dihomo-γ-linolenic acid (DGLA, C20:3n-6), arachidonic acid (AA, C20:4n-6), adrenic acid (DTA, C22:4n-6), α-linolenic acid (ALA, C18:3n-3), eicosatrienoic acid (ETE, 20:3n-3), eicosapentaenoic acid (EPA, C20:5n-3), docosapentaenoic acid (DPA, C22:5n-3), docosahexaenoic acid (DHA, C22:6n-3), phosphatidylcholine diacyl C36:3 (PC aa C36:3), and phosphatidylcholine diacyl C36:4 (PC aa C36:4). Other abbreviations: LDL-C, low-density lipoprotein cholesterol; TG, triglyceride; RBC, red blood cell; M/m, major and minor allele; and *del, deletion. A ↑ indicates an increase and a ↓ represents a decrease.

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