What you carry at this position in your DNA and what research says about it.
Amyloidosis Risk: 5/10 evidence, 45 publications.
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Sample genotype (not yours): G/G
Higher Risk of Amyloidosis
Inheriting two copies of the G allele is associated with an elevated risk of developing immunoglobulin light chain amyloidosis. Organ function, particularly in the heart and kidneys, may be more susceptible to amyloid protein deposits under this genetic profile.
What this genotype means: Elevated risk of AL amyloidosis; Increased risk of cardiac and kidney amyloid deposition.
Sample genotype (not yours): A/A
Lower Risk of Amyloidosis
Two copies of the A allele are associated with a lower risk of developing amyloidosis. Altered responses to specific chemotherapy medications may occur under this genetic profile.
What this genotype means: Reduced risk of AL amyloidosis; Altered sensitivity and side-effect profiles for specific chemotherapies.
Sample genotype (not yours): G/A
Typical Risk of Amyloidosis
An intermediate genetic profile of one G and one A allele results in a typical risk for amyloidosis. Standard responses to most chemotherapies are expected with this balanced genotype.
What this genotype means: Typical risk of AL amyloidosis; Standard baseline chemotherapy response.
Gene function and biological role
Gene Function: The CCND1 gene encodes cyclin D1, a crucial protein that regulates the transition of cells through the cell cycle [1]. By binding to cyclin-dependent kinases, cyclin D1 helps initiate the replication of DNA and cell division [1]. Proper control of this protein is vital, as its overabundance can lead to uncontrolled cell proliferation [2]. Beyond cell cycle control, cyclin D1 also plays a specialized role in regulating cellular metabolism independently of cell division [3].
Variant Impact: Located at the boundary of exon 4 and intron 4 of the CCND1 gene, rs9344 is a synonymous change [4]. Although it does not alter the amino acid sequence directly, this nucleotide change significantly influences how the gene's messenger RNA is spliced [5]. The G allele promotes the production of the standard, full-length cyclin D1a transcript, which is easily degraded by the cell [5]. Conversely, the A allele leads to an alternative transcript called cyclin D1b, which lacks the sequence needed for rapid breakdown and therefore persists longer in cells [5].
Key Insight: This synonymous variant does not change any amino acids but alters how the gene is spliced, creating a longer-lasting protein isoform.
Location: CCND1. Chromosome 11 · 11q13.3 · 69.6 Mb
Estimated prevalence by population
Global 38.2%; European 29.3%; African 61.0%; East Asian 20.5%; South Asian 22.7%; Americas 35.6%; Ashkenazi 30.7%; Finnish 28.1%; Middle Eastern 27.1%; Amish 36.6%.
Estimated GG genotype frequency.
Global 45.2%; European 49.7%; African 34.2%; East Asian 49.5%; South Asian 49.9%; Americas 48.1%; Ashkenazi 49.4%; Finnish 49.8%; Middle Eastern 49.9%; Amish 47.8%.
Estimated GA genotype frequency.
Global 16.6%; European 21.0%; African 4.8%; East Asian 30.0%; South Asian 27.4%; Americas 16.2%; Ashkenazi 19.9%; Finnish 22.1%; Middle Eastern 23.0%; Amish 15.6%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Rare Genetic Disorders
Inherited Metabolic Disorders
Amyloidosis. Evidence: 5/10. Source: PMID 28025584. ~1.37x Higher Risk.
Cardiovascular & Metabolic
Heart Disease
Cardiac Amyloidosis. Evidence: 4/10. Source: PMID 28679651. Increased Risk.
Organ Systems
Kidney Function & Disease
Kidney Amyloidosis. Evidence: 4/10. Source: PMID 28679651. Increased Risk.
Cancer & Oncology
General Cancer Risk
Cancer Susceptibility. Evidence: 7/10. Source: PMID 11459873. Typical Risk.
Pharmacogenomics
Chemotherapy Response
Chemotherapy Response. Evidence: 5/10. Source: PMID 38589850. Typical Response.
Showing effects for A/A genotype
Amyloidosis. Evidence: 5/10. Source: PMID 28025584. Lower Risk.
Cardiac Amyloidosis. Evidence: 4/10. Source: PMID 28679651. Lower Risk.
Kidney Amyloidosis. Evidence: 4/10. Source: PMID 28679651. Lower Risk.
Chemotherapy Response. Evidence: 5/10. Source: PMID 38589850. Altered Response.
Showing effects for G/A genotype
Amyloidosis. Evidence: 5/10. Source: PMID 28025584. Typical Risk.
Cardiac Amyloidosis. Evidence: 4/10. Source: PMID 28679651. Typical Risk.
Kidney Amyloidosis. Evidence: 4/10. Source: PMID 28679651. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Two copies of the G allele are linked to a significantly higher risk of developing immunoglobulin light chain (AL) amyloidosis [1]. This rare condition involves abnormal plasma cells producing misfolded antibody proteins that build up in vital organs [2]. Research shows that this genetic pattern is strongly associated with amyloid deposition in both cardiac and renal tissues, potentially compromising heart and kidney function [2]. While the G allele promotes the standard cyclin D1a transcript, it appears to increase susceptibility to certain plasma cell dyscrasias [1]. Standard chemotherapy treatments generally yield typical outcomes in those with this genotype compared to those carrying the A allele [3]. ClinVar assessments confirm that this variant does not directly cause hereditary colorectal or breast cancers [4].
Elevated risk of AL amyloidosis; Increased risk of cardiac and kidney amyloid deposition.
Sample genotype: AA (Homozygous)
Double copies of the A allele are associated with a reduced risk of developing immunoglobulin light chain amyloidosis [1]. This protective effect is particularly notable for amyloid deposition in the heart and kidneys [2]. The A allele preferentially drives the production of the cyclin D1b splice variant, which has a longer cellular half-life [3]. Despite this molecular difference, major clinical databases classify this variant as entirely benign for hereditary cancer syndromes [4]. In the context of oncology treatments, this genotype is linked to altered drug responses, including better sensitivity to platinum compounds but potentially increased side effects like nausea [5]. Shorter survival times have also been observed when treated with methotrexate for certain leukemias [6].
Reduced risk of AL amyloidosis; Altered sensitivity and side-effect profiles for specific chemotherapies.
Sample genotype: GA (Heterozygous)
Possessing one G allele and one A allele provides a balanced genetic baseline, resulting in a typical risk for immunoglobulin light chain amyloidosis [1]. This intermediate state means the body produces both the standard cyclin D1a and the longer-lived cyclin D1b transcripts [2]. Clinical studies indicate that this genotype does not experience the elevated amyloidosis risk seen in G/G homozygotes [1]. In terms of medication response, some evidence suggests a slightly improved response to certain cancer therapies like pemetrexed and platinum-based compounds compared to G/G individuals [3]. Overall health outcomes and cancer susceptibility remain within the typical range [4]. This genotype represents a common genetic middle ground across most global populations.
Typical risk of AL amyloidosis; Standard baseline chemotherapy response.
Variants with shared genetic architecture
rs554219 · CCND1 Gene · Chr 11 · Breast Cancer Risk
rs614367 · CCND1 Gene · Chr 11 · Breast Cancer Risk
rs4939827 · SMAD7 Gene · Chr 18 · Colorectal Cancer Risk
Cyclin D1-Cdk4 controls glucose metabolism independently of cell cycle progression.
Cyclin D1 splice variant and risk for non-Hodgkin lymphoma.
Cyclin D1 polymorphism and increased risk of colorectal cancer at young age.
Content updated August 2026.
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