Tables
- TABLE 1
Genetic variants in lung transplant recipients with usual interstitial pneumonia
Patient Gene (inheritance) Chromosome position Variant Genotype gnomAD (n) Age at onset Classification 1 TERT (AD/AR) 5:1279485 c.2051A>G, p.(Asp684Gly) HET 29 56 Pathogenic 2 TERT (AD/AR) 5:1279485 c.2051A>G, p.(Asp684Gly) HET 29 56 Pathogenic SERPINA1 (AR) 14:94844947 c.1096G>A, p.(Glu366Lys) HET 3054/25 Pathogenic 3 TERT (AD/AR) 5:1272362 c.2320C>T, p.(Arg774*) HET 19 57 Pathogenic SERPINA1 (AR) 14:94847262 c.863A>T, p.(Glu288Val) HET 6136/132 Pathogenic 4 TERT (AD/AR) 5:1272362 c.2320C>T, p.(Arg774*) HET 19 55 Pathogenic 5 TERT (AD/AR) 5:1264594 c.2768C>T, p.(Pro923Leu) HET 1 63 Likely pathogenic 6 DKC1 (XLR) X:153999083 c.965G>T, p.(Arg322Leu) HEM 0 47 Likely pathogenic TERT (AD/AR) 5:1279562 c.1974G>A, p.(Val658=) HET 11 VUS 7 PARN (AD) 16:14704440-14704726 c. (388+1_389-1) _(554+1_555-1)del HET 0 53 Likely pathogenic 8 PARN (AD) 16:14540684-14576744 c.(1480+1_1481-1) _(1864+1_1865-1)del HET 0 55 Likely pathogenic 9 TINF2 (AD) 14:24709846 c.840G>C, p.(Lys280Asn) HET 0 59 Pathogenic TINF2 (AD) 14:24709920 c.766C>T, p.(Arg256*) Mosaic 0 Likely pathogenic 10 HPS1 (AR) 10:100186986 c.972del, p.(Met325Trpfs*6) HOM 26 60 Pathogenic 11 EDN3 (AD) 20:57876506 c.95_106delinsCA, p.(Gly32Alafs*174) HET 0 43 Likely pathogenic SFTPA2 (AD) 10:81317087 c.622_624del, p.(Tyr208del) HET 0 VUS 12 DNAH9 (AR) 17:11597289 c.4719T>G, p.(Tyr1573*) HET 57 57 Likely pathogenic 13 SCN4A (AD) 17:62022079 c.3866T>C, p.(Leu1289Pro) HET 0 65 VUS 14 SERPINA1 (AR) 14:94844947 c.1096G>A, p.(Glu366Lys) HET 3054/25 51 Pathogenic 15 SERPINA1 (AR) 14:94844947 c.1096G>A, p.(Glu366Lys) HET 3054/25 59 Pathogenic Classifications follow American College of Medical Genetics and Genomic (ACMG) criteria: Pathogenic, Likely pathogenic, VUS. Variants considered molecular diagnoses are in bold. Patients 1–9 had telomere-related disease. AD: autosomal dominant; AD/AR: autosomal dominant and recessive; AR: autosomal recessive; XLR: X-linked recessive; Chr: chromosome; c.: coding DNA sequence; p.: protein sequence; >: substitution; *: termination codon; “=”: synonymous variant; del: deletion; fs: frameshift; delins: deletion/insertion; HET: heterozygote; HOM: homozygote; HEM: hemizygote; gnomAD: genome aggregation database (numbers indicate reported heterozygote/homozygote cases); VUS: variant of uncertain significance.
- TABLE 2
Clinical baseline characteristics of lung transplant recipients with telomere-related and non-telomere-related usual interstitial pneumonia
Telomere-related# Non-telomere-related¶ p-value Age at Dg years (min–max) 55±4 (47–63) 55±9 (33–68) 0.88 Age at Tx years (min–max) 59±5 (50–65) 59±9 (39–70) 0.89 Male sex 9 (100) 9 (64) 0.12 History of smoking 7 (78) 10 (71) 0.99 Family history for IPF 1 (11) 2 (14) 0.99 Hypertension 4 (44) 5 (36) 0.99 Hyperlipidaemia 2 (22) 1 (7) 0.54 Diabetes 2 (22) 0 (0) 0.14 CAD 1 (11) 1 (7) 0.99 Asthma 1 (11) 0 (0) 0.39 Sarcoidosis 1 (11) 0 (0) 0.39 Psoriasis 0 (0) 1 (7) 0.99 Rheumatoid arthritis 0 (0) 1 (7) 0.99 Renal insufficiency+ 0 (0) 1 (7) 0.99 Data presented as mean±sd or n (%). Dg: diagnosis; Tx: transplantation; IPF: idiopathic pulmonary fibrosis; CAD: coronary artery disease. #: n=9; ¶: n=14; +: GFR <60 mL·min−1·1.73 m−2 was classified as renal insufficiency.
- TABLE 3
Outcome of lung transplant recipients with telomere-related and non-telomere-related usual interstitial pneumonia
Telomere-related# Non-telomere-related¶ p-value Dg–Tx days (min–max) 1100±629 (439–2460) 1346±684 (87–2766) 0.40 List time days (min–max) 82±99 (1–321) 82±145 (0–517) 0.99 Follow-up days (min–max) 2920±791 (1921–4421) 2473±1026 (1509–4624) 0.28 New onset chronic renal insufficiency 9 (100) 13 (93) 0.99 MMF treatment stopped 0 (0) 1 (7) 0.99 Skin malignancies 4 (44) 2 (14) 0.16 Histopathological rejection 3 (33) 8 (57) 0.40 Time to rejection days (min–max) 59±15 (47–76) 73±49 (31–176) 0.63 CLAD 3 (33) 6 (43) 0.99 Time to CLAD days (min–max) 1475±329 (1102–1724) 1209±536 (469–1832) 0.46 Data presented as mean±sd or n (%). Dg–Tx: time from diagnosis to transplantation; MMF: mycophenolate mofetil; CLAD: chronic lung allograft dysfunction. #: n=9; ¶: n=14.
Supplementary Materials
Supplementary Material
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Supplementary material 00583-2021.SUPPLEMENT
Supplementary methods 00583-2021.SUPPL_METHODS
