Single nucleotide polymorphisms in desaturases genes – effect on docosahexaenoic acid levels in maternal and fetal tissues and early development of the child.

2017 ◽  
Vol 86 (2) ◽  
pp. 177
Author(s):  
Malwina Anna Malinowska ◽  
Oskar Wojciech Wiśniewski ◽  
Magdalena Warchoł

Polyunsaturated fatty acids (PUFAs) beneficially affect an optimal fetal growth and development right after birth. This effect is particularly significant for the growth and maturation of brain. Therefore, an appropriate maternal regimens for PUFAs supplementation, during pregnancy and lactation, may influence birth outcome and infant health. Recently, it has been shown that genetic profile is an another factor determining long‑chain polyunsaturated fatty acids (LC‑PUFA) composition in human tissues. Single Nucleotide Polymorphisms (SNPs) in the fatty desaturase 1 and 2 (FADS1 and FADS2) modify endogenous synthesis of PUFAs indicating that PUFAs blood concentration may depend on genetic background. What is more, a number of studies indicate that maternal FADS gene variants by their influence on LC‑PUFAs synthesis are associated with child’s health right after birth as well as within first years of life. Determining individual dietary recommendations for clinical practice can be beneficial for both mother and the child.

2019 ◽  
Vol 3 (52) ◽  
pp. 29-30
Author(s):  
Artur Fuglewicz

The paper comments an attempt of genetic score creation of potential atrial fibrillation ablation failure or recurrence AF. This genetic risk score is based on single nucleotide polymorphisms (SNPs) analysis.


2020 ◽  
Vol 150 (6) ◽  
pp. 1379-1387
Author(s):  
Bridget A Hannon ◽  
Caitlyn G Edwards ◽  
Sharon V Thompson ◽  
Ginger E Reeser ◽  
Nicholas A Burd ◽  
...  

ABSTRACT Background Avocados are rich in unsaturated fat and fiber; clinical trials have investigated their effects on metabolic disease. There is high variability in individual changes following avocado consumption, which may be in part due to individual genetic differences. Objective Secondary analyses of the Persea americana for Total Health (PATH) Study were used to examine how single nucleotide polymorphisms (SNPs) impact blood lipid changes following a daily meal containing avocado compared with control. Methods Adults (n = 115, 37% male) aged 25–45 y with overweight and obesity were randomly assigned to receive a daily isocaloric meal with (intervention) or without (control) a standardized amount (males: 175 g; females: 140 g) of avocado for 12 wk. Control meals were higher in saturated fat (17% of energy compared with 7%) and lower in fiber (4 g compared with 16 g) than intervention meals. Whole venous blood was taken at baseline and 12 wk to determine total cholesterol (TC), high-density lipoprotein (HDL) cholesterol, and triglyceride (TG) concentrations. Seventeen SNPs in 10 genes related to lipoprotein metabolism were genotyped. Effects of SNP, diet, and SNP–diet interactions were determined using general linear models. Results No group-by-time effects were detected for changes in TC (P = 0.96), HDL cholesterol (P = 0.28), or TG (P = 0.06) over 12 wk. Three SNP–diet interactions were associated with final TC concentrations: ANGPTL3-rs10889337 (P = 0.01), ANGPTL4-rs2278236 (P = 0.02), and CD36-rs10499859 (P = 0.01). SNPs in GCKR and LPL were associated with TC changes (P = 0.01). The interaction between GCKR-rs1260326 and diet was such that C-homozygotes receiving avocado (n = 23) had final TC concentrations that were significantly lower than the C-homozygotes in the control group (n = 20) (P = 0.02). Conclusions Results from these exploratory analyses indicate that avocado consumption may help manage dyslipidemia in adults with overweight and obesity; however, effectiveness may differ by genetic profile. Understanding the role of genetic variation in variability following dietary intervention can potentially inform personalized nutrition recommendations.


2019 ◽  
Vol 149 (5) ◽  
pp. 708-715 ◽  
Author(s):  
Lotte Lauritzen ◽  
Ingvild D Amundsen ◽  
Camilla T Damsgaard ◽  
Mads V Lind ◽  
Theresia M Schnurr ◽  
...  

ABSTRACT Background Dietary intake of polyunsaturated fatty acids (PUFAs), e.g., linoleic acid and n–3 (ω-3) long-chain PUFAs, has been shown in adults to affect plasma cholesterol and triglycerides (TGs), respectively. Little is known about the effects of PUFAs on plasma lipids in early life. Objective The aim of this study was to explore the associations between plasma concentrations of total, LDL, and HDL cholesterol and TGs in infants and 2 single nucleotide polymorphisms (SNPs) in the fatty acid desaturase genes (FADS) oppositely associated with docosahexaenoic acid (rs1535 and rs174448) and potential effect modification by a functional peroxisome proliferator-activated receptor-γ2 gene variant (PPARG2 Pro12Ala). Methods In 9-mo-old infants (n = 561) from 3 Danish cohorts, we analyzed associations between plasma lipids, erythrocyte PUFAs, and FADS SNPs, and interactions with PPARG2 Pro12Ala genotype, by multiple linear regression. We also examined potential effect modification by breastfeeding, as 46% of the infants were still being breastfed. Results Minor allele carriage of rs174448 was associated with lower total cholesterol (difference: −0.22 mmol/L; 95% CI: −0.37, −0.06 mmol/L; P = 0.006) and LDL cholesterol (difference: −0.15 mmol/L; 95% CI: −0.29, −0.01 mmol/L; P = 0.035), but no associations were observed with TGs or for rs1535. Minor allele carriage of both FADS SNPs was associated with 1 SD lower HDL cholesterol, but only in currently breastfed infants (rs174448 × breastfeeding, P = 0.080; rs1535 × breastfeeding, P = 0.030) and PPARG2 minor allele carriers (rs174448 × PPARG2, P = 0.001; rs1535 × PPARG2, P = 0.004). Erythrocyte arachidonic acid and eicosapentaenoic acid were inversely associated with LDL cholesterol [estimated effect (β): −0.3 mmol/L; 95% CI: −0.06, −0.00 mmol/L per percentage of fatty acids (FA%); P = 0.035] and TGs (β: −0.23 mmol/L; 95% CI: −0.41, −0.05 mmol/L per FA%; P = 0.015), respectively. Conclusions The observed associations with FADS variants indicate that PUFAs are involved in plasma lipid regulation in 9-mo-old infants. Observed FADS SNP differences and interactions with breastfeeding and PPARG2 warrant additional studies to explore the effects of individual FADS SNPs on PUFA status and potential genetic modification of dietary PUFA effects.


2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan

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