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Original Research

Variability within the human TERT gene, telomere length and predisposition to chronic lymphocytic leukemia

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Pages 4309-4320 | Published online: 31 May 2019

Figures & data

Figure 1 Genomic structure of the human telomerase gene. Exons are marked in gray while intronic regions are in white.

Figure 1 Genomic structure of the human telomerase gene. Exons are marked in gray while intronic regions are in white.

Table 1 TERT SNP genotype and allele distribution in CLL patients and controls

Figure 2 Relationship between age of patients and CLL stage at diagnosis. Patients older than 60 years had lower stage of the disease at diagnosis than those aged 60 or younger, using both the Rai (A) and Binet (B) staging systems.

Abbreviation: CLL, chronic lymphocytic leukemia.

Figure 2 Relationship between age of patients and CLL stage at diagnosis. Patients older than 60 years had lower stage of the disease at diagnosis than those aged 60 or younger, using both the Rai (A) and Binet (B) staging systems.Abbreviation: CLL, chronic lymphocytic leukemia.

Figure 3 Relationships between the TERT VNTR polymorphism and CLL stage at diagnosis. Patients carrying the MNS16A-243 allele were characterized with lower stage of the disease according to both the Rai (A) and Binet (B) criteria.

Abbreviations: VNTR, variable number of tandem repeats; CLL, chronic lymphocytic leukemia.

Figure 3 Relationships between the TERT VNTR polymorphism and CLL stage at diagnosis. Patients carrying the MNS16A-243 allele were characterized with lower stage of the disease according to both the Rai (A) and Binet (B) criteria.Abbreviations: VNTR, variable number of tandem repeats; CLL, chronic lymphocytic leukemia.

Figure 4 Lack of LD between polymorphic variants under study. MNS16A VNTR is shown to the left, and TERT SNPs to the right. Darker color shows higher r2 values, while the value shown inside the squares is r2×102. LD was considered medium for r2>20 and strong for r2>80. The graph was created using Haploview 4.2 software (http://vassarstats.net/tab2x2.html).

Abbreviations: LD, linkage disequilibrium; VNTR, variable number of tandem repeats; SNP, single-nucleotide polymorphism.

Figure 4 Lack of LD between polymorphic variants under study. MNS16A VNTR is shown to the left, and TERT SNPs to the right. Darker color shows higher r2 values, while the value shown inside the squares is r2×102. LD was considered medium for r2>20 and strong for r2>80. The graph was created using Haploview 4.2 software (http://vassarstats.net/tab2x2.html).Abbreviations: LD, linkage disequilibrium; VNTR, variable number of tandem repeats; SNP, single-nucleotide polymorphism.

Figure 5 Telomere length in patients with varying severity of the disease. In patients carrying the TERT rs2736100 C allele, longer telomeres were associated with less advanced disease according to the Rai staging system (A) and the Binet criteria (B).

Figure 5 Telomere length in patients with varying severity of the disease. In patients carrying the TERT rs2736100 C allele, longer telomeres were associated with less advanced disease according to the Rai staging system (A) and the Binet criteria (B).

Figure 6 Relationship between telomere length and the presence of VNTR alleles in older patients. Among CLL patients over 60 years of age, those carrying the VNTR-234 allele had longer telomeres than patients lacking this allele (with an average telomere length of 9.01 vs 6.03 kb, p=0.046).

Abbreviations: VNTR, variable number of tandem repeats; CLL, chronic lymphocytic leukemia.

Figure 6 Relationship between telomere length and the presence of VNTR alleles in older patients. Among CLL patients over 60 years of age, those carrying the VNTR-234 allele had longer telomeres than patients lacking this allele (with an average telomere length of 9.01 vs 6.03 kb, p=0.046).Abbreviations: VNTR, variable number of tandem repeats; CLL, chronic lymphocytic leukemia.

Table 2 TERT MNS16A genotype and allele distribution in CLL patients and controls

Table S1 Telomere length in cancer and leukemia cell lines, cell line characteristics and culture conditions