Table 4.
List of key studies on gene variants in ILDs.
| Study | ILD | Genes Analysed |
|---|---|---|
| Armanios et al. [31] | f-IPF s-IPF |
TERT, TERC, RTEL1 and PARN TERT, TERC |
| Alder et al. [19] | f-IPF | TERT, TERC, RTEL1 and PARC |
| Tsakiri et al. [34] | s-IPF | TERT |
| Juge et al. [9] | RA-ILD | TERT, RTEL1, PARN, TERC and DKC1 |
| Kannengiesser et al. [30], Vannier et al. [40] | f-IPF | RTEL1 |
| Ley et al. [51] | CHP | TERT, TERC, RTEL1, and PARN |
| van Moorsel et al. [59], Bullard et al. [58] | FPF | ABCA3 variants |
| Doubková et al. [63], Takezaki et al. [64] | FPF | SP-A1 |
| Wang, Y. et al. [65] and Van Moorsel et al. [66] |
FPF and s-IPF | SP-A2 |
| Juge et al. [9] | RA-ILD | SP-C |
| Gandhi et al. [67] and Abbasi et al. [68] |
HP and IPF | SP-A1, SP-A2 and SP-D |
| Seibold et al. [74] | IPF and FPF | MUC5B rs35705950 minor allele T |
| Stock et al. [76] | IPF, SSc-ILD and sarcoidosis | MUC5B rs35705950 minor allele T |
| Borie et al. [77] | IPF and SSc-ILD | MUC5B rs35705950 minor allele T |
| Zhang et al. [78], Wang et al. [79], Jiang et al. [80] |
s-IPF | MUC5B rs35705950 minor allele T, genotype TT |
| Juge et al. [7], Palomäki et al. [84], Juge et al. [86] |
RA-ILD | MUC5B rs35705950 minor allele T |
| Furusawa et al. [87], Ley et al. [10] |
IPF and CHP | MUC5B rs35705950 minor allele T |
| Peljto et al. [83] | SSc-ILD | MUC5B rs35705950 minor allele T |
| López-Mejías et al. [89] | ASSD | MUC5B rs35705950 minor allele T |
| Johnson et al. [90] | autoimmune myositis | MUC5B rs35705950 minor allele T |
| Platenburg et al. [11] | IPF and asbestosis | MUC5B rs35705950 minor allele T |
| Li, X. et al. [95], Noth, I. et al. [100] | IPF | TOLLIP alleles G in SNV rs111521887, SNV rs5743894, SNV rs5743890 and minor allele T of SNV rs3750920 |
| Katayanagi, S. et al. [101] | CHP | TOLLIP rs5743890 minor allele and rs5743899 GG genotype |
The table summarizes key studies on gene variants in ILDs, highlighting the ILD types and the relevant genes analyzed in each study. ABCA3: ATP binding cassette subfamily A member 3; ASSD: anti-synthetase syndrome; CHP: chronic hypersensitivity pneumonitis; HP: Hypersensitivity pneumonitis; IPF: idiopathic pulmonary fibrosis; f-IPF: familial idiopathic pulmonary fibrosis; s-IPF: sporadic idiopathic pulmonary fibrosis; FPF: familial pulmonary fibrosis; lncRNAs: long non-coding; miRNAs: microRNAs; MUC5B: Mucin 5B; PARN: Poly (A)-specific ribonuclease; RA-ILD: Rheumatoid arthritis interstitial lung disease; RTEL1: regulator of telomere length 1; SP-A1: surfactant proteins A1 encoded by genes SFTPA1; SP-A2: surfactant proteins A2 encoded by genes SFTPA2; SP-C: surfactant proteins C encoded by genes SFTPC; SSc: Systemic Sclerosis; SSc-ILD: Systemic Sclerosis interstitial lung disease; TERC: telomerase RNA component; TERT: telomerase reverse transcriptase; TOLLIP: Toll-interacting protein.