Background: Recent genome-wide association studies in the Mexican population have identified several genetic loci associated with blood lipid levels in adults. However, studies focusing on the fatty acid desaturase (FADS) gene cluster have been understudied in this population, even though it seems associated with lipid profiles in other ethnicities. The aim of this study was to test associations between single nucleotide polymorphisms (SNPs) in the FADS cluster (rs174546, rs1535, rs174548, rs174550, rs174450, and rs174618) and serum lipid profiles in young Mexicans. Methods: Anthropometrics, serum lipid profiles, and FADS SNPs were measured in 998 subjects in the UP-AMIGOS cohort study. Genotype-phenotype (total cholesterol [TC], triglyceride [TG], high-density lipoprotein cholesterol [HDL-C], low-density lipoprotein cholesterol [LDL-C], and very-low-density lipoprotein [VLDL]) associations were assessed using PLINK adjusted for sex, age, and body mass index (BMI). Results: Among 6 FADS SNPs, we found that carriers of the C-allele of the FADS1-rs174546 showed a significant association with lower TG concentrations (β = –12.6 mg/dL, p = 0.009) and lower VLDL concentrations (β = –2.52 mg/dL, p = 0.005). We found that rs174546, rs1535, and rs174550 were in high linkage disequilibrium (r2 > 0.80). There were no significant associations between rs174550, rs174548, and rs174618 and lipid profiles. Conclusion: A genetic variant in the FADS1 (rs174546) gene is a major contributor of plasma TG and VLDL concentrations in healthy young Mexicans.

中文翻译：

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墨西哥年轻大学生的血清脂质浓度和FADS遗传变异：UP-AMIGOS 队列研究

背景：最近在墨西哥人群中进行的全基因组关联研究已经确定了几个与成人血脂水平相关的基因位点。然而，针对脂肪酸去饱和酶 (FADS) 基因簇的研究在这一人群中尚未得到充分研究，尽管它似乎与其他种族的脂质谱有关。本研究的目的是测试 FADS 簇（rs174546、rs1535、rs174548、rs174550、rs174450 和 rs174618）中单核苷酸多态性 (SNP) 与年轻墨西哥人血清脂质谱之间的关联。方法：在 UP-AMIGOS 队列研究中测量了 998 名受试者的人体测量学、血清脂质谱和 FADS SNP。基因型-表型（总胆固醇 [TC]、甘油三酯 [TG]、高密度脂蛋白胆固醇 [HDL-C]、低密度脂蛋白胆固醇 [LDL-C]、和极低密度脂蛋白 [VLDL]) 关联使用 PLINK 评估，调整了性别、年龄和体重指数 (BMI)。结果：在 6 个 FADS SNP 中，我们发现 FADS1-rs174546 的 C 等位基因的携带者与较低的 TG 浓度（β = –12.6 mg/dL，p = 0.009）和较低的 VLDL 浓度（β = – 2.52 毫克/分升，p = 0.005)。我们发现 rs174546、rs1535 和 rs174550 处于高度连锁不平衡（r2 > 0.80）。rs174550、rs174548 和 rs174618 与脂质谱之间没有显着关联。结论：FADS1 (rs174546) 基因中的遗传变异是健康年轻墨西哥人血浆 TG 和 VLDL 浓度的主要贡献者。我们发现 FADS1-rs174546 的 C 等位基因的携带者与较低的 TG 浓度（β = –12.6 mg/dL，p = 0.009）和较低的 VLDL 浓度（β = –2.52 mg/dL，p = 0.005）。我们发现 rs174546、rs1535 和 rs174550 处于高度连锁不平衡（r2 > 0.80）。rs174550、rs174548 和 rs174618 与脂质谱之间没有显着关联。结论：FADS1 (rs174546) 基因中的遗传变异是健康年轻墨西哥人血浆 TG 和 VLDL 浓度的主要贡献者。我们发现 FADS1-rs174546 的 C 等位基因的携带者与较低的 TG 浓度（β = –12.6 mg/dL，p = 0.009）和较低的 VLDL 浓度（β = –2.52 mg/dL，p = 0.005）。我们发现 rs174546、rs1535 和 rs174550 处于高度连锁不平衡（r2 > 0.80）。rs174550、rs174548 和 rs174618 与脂质谱之间没有显着关联。结论：FADS1 (rs174546) 基因中的遗传变异是健康年轻墨西哥人血浆 TG 和 VLDL 浓度的主要贡献者。80）。rs174550、rs174548 和 rs174618 与脂质谱之间没有显着关联。结论：FADS1 (rs174546) 基因中的遗传变异是健康年轻墨西哥人血浆 TG 和 VLDL 浓度的主要贡献者。80）。rs174550、rs174548 和 rs174618 与脂质谱之间没有显着关联。结论：FADS1 (rs174546) 基因中的遗传变异是健康年轻墨西哥人血浆 TG 和 VLDL 浓度的主要贡献者。