Table. 1.
Demographic, serological, breathomic, and genomic parameters from rare adults.
| Isoprene absent rare adults | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Demographic parameters | ID | 1 | 2 | 3 | 4 | 5 | |||||||
| Demography & lifestyle | Age (years) | 32 | 43 | 28 | 44 | 27 | |||||||
| Gender | Female | Female | Female | Male | Male | ||||||||
| Ethnicity | German | German | German | German | German | ||||||||
| Clinical status | Healthy | Healthy | Healthy | Healthy | Healthy | ||||||||
| Special therapy/Diet | No | No | No | No | No | ||||||||
| Smoking/Drinking habit | No | Smoker | No | No | Alcohol (occation) | ||||||||
| Serological parameters | |||||||||||||
| Lipids | Cholesterol (mmol/L) | 4.4 | 4.6 | 3.9 | 4.0 | 4.9 | < 6.18 | CHOD-PAP/LiHeparin | |||||
| HDL (mmol/L) | 1.27 | 1.97 | 1.77 | 1.68 | 1.72 | 1.09 - 2.28 | PHOT/LiHeparin | ||||||
| LDL (mmol/L) | 2.82 | 2.72 | 1.94 | 2.31 | 3.12 | 1.76 - 4.11 | PHOT/LiHeparin | ||||||
| Lipoprotein a (g/L) | 0.5 | 2.15 | 0.04 | 0.05 | 0.07 | < 0.3 | NEPH/LiHeparin | ||||||
| Triglyceride (mmol/L) | 0.67 | 0.63 | 0.75 | 1.46 | 0.84 | < 1.7 | GPO-PAP/LiHeparin | ||||||
| Metabolites | Total Bilirubin (μmol/L) | 9.49 | 7.21 | 12.5 | 13.3 | 38.2 | 1.71 - 20.5 | PHOT/LiHeparin | |||||
| Direct Bilirubin (μmol/L) | 1.35 | 0.93 | 3.11 | 2.45 | 4.74 | < 5.1 | PHOT/LiHeparin | ||||||
| Indirect Bilirubin (μmol/L) | 8.14 | 6.28 | 9.39 | 10.9 | 33.5 | 3.4 - 12.0 | /LiHeparin | ||||||
| Hormones | 17ß-Estradiol E2 (pmol/L) | 75.4 | 1101 | 504 | 129 | 18.4 | Female (premenopausal): 110 - 1468.4 Female (postmenopausal): 0 - 110 Male: 36.7 - 183.6 | ECLIA/Serum | |||||
| Progesteron (nmol/L) | 0.74 | 29.4 | 6.63 | 0.59 | 0.86 | Female (pre-ovulation): 3.18 Female (mid-cycle): 15.9 - 63.6 Male: < 3.18 | ECLIA/Serum | ||||||
| Testosteron (ng/mL) | 0.22 | 0.37 | 0.44 | 6.03 | 4.44 | Male: 2.5 - 9.5 Female: 0.1 - 0.9 | ECLIA/Serum | ||||||
| Breathomic parameters | |||||||||||||
| Endogenous VOCs | Acetone (ppbV) | 395.77 | 588.61 | 409.76 | 1461.06 | 821.53 | 250 - 1000 | PTR-ToF-MS | |||||
| Isoprene (ppbV) | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 100–300 | |||||||
| Acetic acid (ppbV) | 9.44 | 18.13 | 14.97 | 18.88 | 16.76 | 5–50 | |||||||
| Butyric acid (ppbV) | 0.96 | 1.54 | 0.90 | 1.86 | 1.40 | 0.1 - 5 | |||||||
| Dimethyl sulfide (ppbV) | 12.95 | 9.84 | 39.49 | 178.20 | 2.00 | 250 - 1000 | |||||||
| Acetaldehyde (ppbV) | 38.82 | 33.79 | 58.77 | 126.97 | 63.38 | 10 - 180 | |||||||
| Crotonaldehyde (ppbV) | 0.23 | 0.57 | 0.38 | 0.51 | 0.32 | 0.1 - 1 | |||||||
| Pentanal (ppbV) | 22.27 | 58.32 | 57.80 | 60.10 | 17.89 | 5 - 100 | |||||||
| Exogenous VOCs | Acetonitrile (ppbV) | 4.30 | 123.21 | 5.70 | 8.40 | 3.98 | Smoking related | ||||||
| Ethanol (ppbV) | 6.93 | 82.28 | 49.30 | 10.04 | 493.40 | Drinking related | |||||||
| Benzene (ppbV) | 0.19 | 2.40 | 0.92 | 1.58 | 0.78 | Enviornmental | |||||||
| Toluene (ppbV) | 1.32 | 1.81 | 1.45 | 2.07 | 1.71 | Expouser | |||||||
| Limonene (ppbV) | 133.97 | 17.53 | 35.91 | 30.17 | 12.42 | Diatery | |||||||
| Genomic parameters | |||||||||||||
| Shared homozygous mutation with <1% population prevalence | Genes | Amino acids | Variants | Impact | Variant allele frequency | Heterozygous % | Homozygous % | Reference | Whole human exome sequencing (All Exon V8, end seq. 2×150 bp and 50x average on target) | ||||
| ACAT2 | p.K211R | c.632 A > G | Missense | 0.00 | 100.00 | 41.82 | 100.00 | 43.08 | 57.66 | 14.47 | European population (gnomAD) | ||
| HMGCR | p.T582M | c.1745C>T | Missense | 96.23 | 0.00 | 0.00 | 0.00 | 0.00 | 16.41 | 0.65 | |||
| HMGCR | p.G580fs* | c.1737_1752del CGGACAGACGGATGGA | Frameshift deletion | 37.08 | 45.00 | 40.98 | 0.00 | 0.00 | 25.21 | 2.72 | |||
| MVK | p.S52N | c.155 G > A | Missense | 0.00 | 0.00 | 0.00 | 100.00 | 52.00 | 13.11 | 0.82 | |||
| PMVK | p.N14S | c.41 A > G | Missense | 0.00 | 0.00 | 39.66 | 45.28 | 0.00 | 6.43 | 0.17 | |||
| MVD | Splicing | c.70+5 G > A | Splicing | 0.00 | 0.00 | 0.00 | 0.00 | 50.67 | 0.41 | 0.00 | |||
| IDI2 | p.W144* | c.431 G > A | Stop gain | 100.00 | 100.00 | 100.00 | 100.00 | 100.00 | 6.95 | 0.23 | |||
| FDFT1 | p.H76_S77del | c.226_231delCACTCC | Deletion | 100.00 | 100.00 | 100.00 | 100.00 | 100.00 | 93.86 | 38.69 | |||
| LSS | p.R95Q | c.284 G > A | Missense | 44.34 | 0.00 | 46.67 | 0.00 | 0.00 | 15.77 | 1.27 | |||
| LSS | p.H230R | c.689 A > G | Missense | 56.52 | 0.00 | 49.40 | 0.00 | 0.00 | 15.86 | 1.28 | |||
| LSS | p.L562V | c.1684T>G | Missense | 100.00 | 100.00 | 100.00 | 0.00 | 55.70 | 65.39 | 18.62 | |||
| DHCR7 | p.M389T | c.1166 T > C | Missense | 0.00 | 100.00 | 100.00 | 100.00 | 100.00 | 95.36 | 39.43 | |||
Demography (age, gender, ethnic origin, and health status), lifestyle (smoking, drinking habits and therapy and special diet), relevant serological parameters (plasma lipid profile, bile metabolites, and sex hormones) and exhaled concentrations of prime endogenous and exogenous VOCs from the five rare adults are presented. Corresponding reference range and applied methods are also listed. Aberrated parameters are marked in bold. Gene names are written in italics.