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rs2112347 (POC5)

What you carry at this position in your DNA and what research says about it.

Obesity and Body Fat: 10/10 evidence, 19 publications.

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Sample genotype (not yours): T/T

Higher Risk of Elevated BMI and Body Fat

Carrying two copies of the T allele is associated with a higher body mass index, increased body fat percentage, and a larger waist-to-hip ratio.

What this genotype means: Higher body mass index; Increased body fat percentage; Larger waist-to-hip ratio.

Sample genotype (not yours): G/G

Lower Risk of Elevated BMI and Body Fat

Carrying two copies of the G allele is associated with a lower body mass index, reduced body fat, and higher HDL cholesterol.

What this genotype means: Lower body mass index; Reduced body fat percentage; Higher HDL cholesterol.

Sample genotype (not yours): T/G

Slightly Higher Risk of Elevated BMI

Carrying one copy of the T allele is linked to a slightly higher body mass index and moderate body fat levels.

What this genotype means: Slightly higher body mass index; Moderately increased body fat; Intermediate lipid levels.

About POC5

Gene function and biological role

Gene Function: The POC5 gene encodes a crucial centriolar protein essential for cell cycle progression and centriole organelle assembly. It plays a vital role in maintaining cell structure and genomic stability during division. Beyond its structural functions, genetic variations in this gene have been consistently linked to metabolic traits, including body mass index and fat distribution [1]. Researchers have identified its involvement in adiposity pathways, suggesting that alterations in centriolar dynamics may influence metabolic efficiency and fat storage [2].

Variant Impact: The rs2112347 variant is an intronic change located within the POC5 gene. This genetic variation is highly associated with anthropometric measurements, particularly body mass index and body fat percentage [3]. The T allele of this variant is linked to increased weight, waist circumference, and overall body fat, while the G allele is associated with lower adiposity but altered lipid profiles [2].

Key Insight: The T allele of this variant is linked to higher body mass index and body fat, yet carriers of this allele also tend to have lower LDL cholesterol levels.

Location: POC5. Chromosome 5 · 5q13.3 · 75.7 Mb

Genotype Frequencies

Estimated prevalence by population

Global 33.5%; European 40.6%; African 23.9%; East Asian 19.9%; South Asian 19.8%; Americas 36.4%; Ashkenazi 32.8%; Finnish 34.1%; Middle Eastern 48.6%; Amish 30.7%.

Estimated TT genotype frequency.

Global 47.9%; European 46.2%; African 50.0%; East Asian 49.4%; South Asian 49.4%; Americas 47.9%; Ashkenazi 49.0%; Finnish 48.6%; Middle Eastern 42.2%; Amish 49.4%.

Estimated TG genotype frequency.

Global 18.6%; European 13.2%; African 26.1%; East Asian 30.7%; South Asian 30.7%; Americas 15.7%; Ashkenazi 18.3%; Finnish 17.3%; Middle Eastern 9.2%; Amish 19.9%.

Estimated GG genotype frequency.

Associated Traits

Showing effects for T/T genotype

Cardiovascular & Metabolic

Obesity & Body Composition

Body Mass Index. Evidence: 10/10. Source: PMID 30108127. Higher BMI.

Body Fat Percentage. Evidence: 6/10. Source: PMID 33980691. Higher Body Fat.

Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Higher Ratio.

Lipids & Cholesterol

HDL Cholesterol. Evidence: 8/10. Source: PMID 33980691. Lower HDL.

LDL Cholesterol. Evidence: 6/10. Source: PMID 35213538. Lower LDL.

Showing effects for G/G genotype

Body Mass Index. Evidence: 10/10. Source: PMID 30108127. Lower BMI.

Body Fat Percentage. Evidence: 6/10. Source: PMID 33980691. Lower Body Fat.

Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Lower Ratio.

HDL Cholesterol. Evidence: 8/10. Source: PMID 33980691. Higher HDL.

LDL Cholesterol. Evidence: 6/10. Source: PMID 35213538. Higher LDL.

Showing effects for T/G genotype

Body Mass Index. Evidence: 10/10. Source: PMID 30108127. Slightly Higher BMI.

Body Fat Percentage. Evidence: 6/10. Source: PMID 33980691. Slightly Higher Fat.

Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Slightly Higher Ratio.

HDL Cholesterol. Evidence: 8/10. Source: PMID 33980691. Slightly Lower HDL.

LDL Cholesterol. Evidence: 6/10. Source: PMID 35213538. Slightly Lower LDL.

What TT Genotype Means

What this genotype means for the people who carry it

Sample genotype: TT (Homozygous)

Studies have consistently linked the T allele of this variant to higher body mass index and increased adiposity [1]. Individuals with the T/T genotype tend to have higher overall body fat percentages and a greater waist-to-hip ratio, which are key markers for metabolic health [2]. This genetic predisposition can make weight management more challenging, as it influences how the body stores fat [3]. However, this genotype is also associated with slightly lower levels of LDL cholesterol, which is a minor cardiovascular benefit [4]. Despite the lower LDL, the overall metabolic profile leans toward higher obesity risk, making regular physical activity and a balanced diet particularly beneficial for individuals with this genetic profile [5].

Higher body mass index; Increased body fat percentage; Larger waist-to-hip ratio.

What GG Genotype Means

Sample genotype: GG (Homozygous)

Individuals with the G/G genotype generally benefit from a lower genetic predisposition to high body mass index and obesity [1]. This genotype is associated with a lower body fat percentage and a more favorable waist-to-hip ratio [2]. Additionally, research shows that the G allele is linked to higher levels of protective HDL cholesterol, which supports cardiovascular health [3]. However, this genotype is also associated with slightly higher levels of LDL cholesterol, which is a factor to monitor [3]. Overall, the metabolic advantages of lower adiposity and higher HDL make this a highly favorable genetic profile for weight management and metabolic health [4].

Lower body mass index; Reduced body fat percentage; Higher HDL cholesterol.

What TG Genotype Means

Sample genotype: TG (Heterozygous)

Having one copy of the T allele places individuals in an intermediate category for metabolic traits. Research indicates a modest increase in body mass index and body fat percentage compared to those with the G/G genotype [1]. Waist-to-hip ratio and general fat distribution are also slightly elevated, though to a lesser extent than in T/T homozygotes [2]. On the lipid side, this genotype presents a balanced profile, with moderate levels of both HDL and LDL cholesterol [3]. Because this genotype represents a blend of both alleles, maintaining a healthy lifestyle can effectively offset the slight genetic predisposition toward weight gain [4].

Slightly higher body mass index; Moderately increased body fat; Intermediate lipid levels.

Related Variants

Variants with shared genetic architecture

rs2307111 · POC5 Gene · Chr 5 · Metabolic Health and Weight

rs10968576 · LINGO2 Gene · Chr 9 · Weight and Metabolic Risk

rs17024393 · GNAT2 Gene · Chr 1 · Obesity and Weight Risk

Sources

Genetic studies of body mass index yield new insights for obesity biology.

Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.

A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

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Content updated August 2026.

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