Fig. 2: Description of heteroplasmy.
From: Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms
Distribution of the number of individuals with heteroplasmy stratified by complex/region in (A) UKB and (B) ARIC. Distribution of mMSS stratified by complex/region in (C) UKB (number of individuals used to derive statistics; median mMSS [Q1, Q3] Complex I: n = 38,931; 0.000 [0.000, 0.140]; Complex III: n = 11,700; 0.037 [0.000, 0.109]; Complex IV: n = 22,632; 0.043 [0.000, 0.228]; Complex V: n = 9416; 0.012 [0.000, 0.029]; D-loop: n = 36,829; 0.015 [0.007, 0.017]; rRNA: n = 14,891; 0.258 [0.121, 0.589]; tRNA: n = 8876; 0.146 [0.081, 0.296]) and (D) ARIC (number of individuals used to derive statistics; median mMSS [Q1, Q3] Complex I: n = 694; 0.000 [0.000, 0.174]; Complex III: n = 236; 0.032 [0.000, 0.087]; Complex IV: n = 426; 0.069 [0.000, 0.243]; Complex V: n = 175; 0.015 [0.002, 0.028]; D-loop: n = 559; 0.015 [0.007, 0.017]; rRNA: n = 267; 0.320 [0.127, 0.633]; tRNA: n = 179; 0.154 [0.079, 0.306]). Graphical representation of mMSS was truncated at mMSS = 2. All values of mMSS were included for the analyses. Two-sided Mann-Whitney-Wilcoxon rank sum test with continuity correction was used to assess the difference between mMSS of rRNA/tRNA compared to mMSS of other complexes/regions in both UKB (P < 2.2e-16) and ARIC (P < 2.2e-16). Number of heteroplasmies per individual in (E) UKB and (F) ARIC. Abbreviations: mMSS, modified mitochondrial local constraint (MLC) score sum. * Denotes comparison between mMSS in rRNA/tRNA and mMSS occurring in other complexes/regions. Source data are provided as a Source Data file.
