What you carry at this position in your DNA and what research says about it.
Cholesterol and Triglycerides: 10/10 evidence, 18 publications.
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Sample genotype (not yours): T/T
Favorable Lipid Profile and Typical Cardiovascular Markers
Inheriting two copies of the T allele is associated with optimal triglyceride levels and healthy HDL cholesterol. This combination supports a balanced cardiovascular profile.
What this genotype means: Typical triglyceride levels; Optimal HDL cholesterol levels; Normal red blood cell size variation.
Sample genotype (not yours): C/C
Higher Triglycerides and Lower HDL Cholesterol
Inheriting two copies of the C allele is associated with elevated triglycerides and reduced HDL cholesterol. This lipid pattern is a known contributor to cardiovascular risk.
What this genotype means: Elevated triglyceride levels; Lower protective HDL cholesterol; Increased red cell distribution width.
Sample genotype (not yours): T/C
Slightly Higher Triglycerides and Lower HDL Cholesterol
Carrying one copy of the C allele is linked to a mild increase in triglycerides and a slight reduction in protective HDL cholesterol. Monitoring lipid panels can help track these subtle metabolic shifts.
What this genotype means: Slightly increased triglycerides; Slightly lower HDL cholesterol; Minor increase in red cell distribution width.
Gene function and biological role
Gene Function: The PCIF1 gene encodes phosphorylated CTD interacting factor 1, a protein that plays a role in regulating transcription and RNA modification. It is located adjacent to the PLTP gene, which encodes phospholipid transfer protein, a key regulator of high-density lipoprotein (HDL) metabolism [1]. Because of this close proximity, genetic variations in this region are frequently associated with changes in circulating lipid levels [2]. Research indicates that alterations in this genomic locus influence how lipids and phospholipids are distributed among lipoprotein particles [3]. Consequently, this gene region is a well-known marker in genome-wide studies of cardiovascular risk factors [4].
Variant Impact: The rs7679 variant is located in the 3 prime untranslated region (3 UTR) of the PCIF1 gene, a region critical for regulating gene expression and stability. This specific genetic change is strongly linked to variations in blood lipid profiles, particularly triglycerides and HDL cholesterol [2]. The C allele of this variant is associated with an increase in circulating triglycerides and a corresponding decrease in protective HDL cholesterol [1]. Additionally, this variant correlates with changes in red blood cell characteristics, such as red cell distribution width [5]. These multi-system associations highlight the variant's role in metabolic and hematological traits [6].
Key Insight: A single genetic letter change in the non-coding region of this gene simultaneously influences both the size of your red blood cells and the balance of fats circulating in your bloodstream.
Location: PCIF1. Chromosome 20 · 20q13.12 · 45.9 Mb
Estimated prevalence by population
Global 76.1%; European 66.2%; African 92.5%; East Asian 95.2%; South Asian 63.3%; Americas 78.1%; Ashkenazi 67.9%; Finnish 72.4%; Middle Eastern 75.1%; Amish 66.1%.
Estimated TT genotype frequency.
Global 21.8%; European 30.3%; African 7.3%; East Asian 4.7%; South Asian 32.5%; Americas 20.6%; Ashkenazi 29.0%; Finnish 25.3%; Middle Eastern 23.2%; Amish 30.4%.
Estimated TC genotype frequency.
Global 2.1%; European 3.5%; African 0.1%; East Asian 0.1%; South Asian 4.2%; Americas 1.4%; Ashkenazi 3.1%; Finnish 2.2%; Middle Eastern 1.8%; Amish 3.5%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Triglycerides. Evidence: 10/10. Source: PMID 19060906. Typical Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 19060906. Typical Levels.
Total Cholesterol. Evidence: 10/10. Source: PMID 38448586. Typical Levels.
Blood Cell & Iron Traits
Red Cell Distribution Width. Evidence: 8/10. Source: PMID 30595370. Typical Variation.
Showing effects for C/C genotype
Triglycerides. Evidence: 10/10. Source: PMID 19060906. Increased Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 19060906. Decreased Levels.
Total Cholesterol. Evidence: 10/10. Source: PMID 38448586. Elevated Levels.
Red Cell Distribution Width. Evidence: 8/10. Source: PMID 30595370. Elevated Variation.
Showing effects for T/C genotype
Triglycerides. Evidence: 10/10. Source: PMID 19060906. Slightly Increased.
HDL Cholesterol. Evidence: 10/10. Source: PMID 19060906. Slightly Decreased.
Total Cholesterol. Evidence: 10/10. Source: PMID 38448586. Slightly Elevated.
Red Cell Distribution Width. Evidence: 8/10. Source: PMID 30595370. Slightly Elevated.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Maintaining balanced blood lipids is highly likely with this genetic profile. Large-scale genome-wide association studies show that the T allele correlates with lower circulating triglycerides and higher levels of protective HDL cholesterol [1]. This favorable lipid balance is crucial for long-term cardiovascular health and blood vessel integrity [2]. Additionally, this genotype is linked to a typical red cell distribution width, indicating uniform red blood cell size [3]. Overall, these genetic markers point toward a baseline metabolism that efficiently processes fats and maintains stable blood parameters [4].
Typical triglyceride levels; Optimal HDL cholesterol levels; Normal red blood cell size variation.
Sample genotype: CC (Homozygous)
Elevated circulating triglycerides are strongly associated with this double-copy risk profile. Multiple genetic studies confirm that the C/C genotype leads to a more pronounced increase in triglycerides and a corresponding drop in protective HDL cholesterol [1]. This specific combination of high triglycerides and low HDL is a classic marker for dyslipidemia [2]. Furthermore, this genotype correlates with a higher red cell distribution width, which can be an independent marker of cardiovascular strain [3]. Proactive lifestyle choices, such as a low-carbohydrate diet and regular exercise, are particularly beneficial for managing these genetically driven lipid trends [4].
Elevated triglyceride levels; Lower protective HDL cholesterol; Increased red cell distribution width.
Sample genotype: TC (Heterozygous)
Slightly elevated triglyceride levels are common in individuals with this intermediate genetic profile. Research indicates that carrying a single copy of the C allele shifts the lipid balance toward higher triglycerides and lower HDL cholesterol [1]. This pattern can influence overall cardiovascular risk, especially when combined with dietary factors [2]. Studies also note a minor increase in red cell distribution width, reflecting slight variations in red blood cell size [3]. While these changes are typically modest, they highlight a genetic tendency toward altered lipid metabolism [4].
Slightly increased triglycerides; Slightly lower HDL cholesterol; Minor increase in red cell distribution width.
Variants with shared genetic architecture
rs116843064 · ANGPTL4 Gene · Chr 19 · Heart Disease Risk
rs12678919 · LPL Gene · Chr 8 · Cholesterol and Lipids
rs13702 · LPL Gene · Chr 8 · Blood Triglyceride Levels
Common variants at 30 loci contribute to polygenic dyslipidemia.
The influence of rare variants in circulating metabolic biomarkers.
Genome-wide characterization of circulating metabolic biomarkers.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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