Page 76 - Read Online

Moore et al. J Transl Genet Genom 2021;5:200-217 https://dx.doi.org/10.20517/jtgg.2021.08 Page 7

Table 1. Summary of genome-wide homozygosity measures by GWAS and case-control status*
No. No. Median ROH total IQR ROH total Median number IQR number of Median
Subtype Study IQR FROH Median F3 IQR F3
cases controls length (kb) length (kb) of ROH ROH FROH
-3 -3 -3
CLL NCI Cases 2140 18593 13057-25486 7 5-9 0.62% 0.44%-0.79% 2.57 × 10 -1.34 × 10 -7.49 × 10
-3
Controls 6105 18045 12674-24396 7 5-9 0.60% 0.42%-0.81% 1.48 × 10 -3 -2.07 × 10 -5.36 × 10 -3
-3
GEC Cases 387 23014 16496-29054 8 6-10 0.77% 0.55%-0.97% 6.41 × 10 -4 -3.66 × 10 -4.85 × 10 -3
-4 -3 -3
Controls 294 21920 14852-28391 8 6-10 0.73% 0.50%-0.95% -6.99 × 10 -4.90 × 10 -3.06 × 10
-3
UCSF2 Cases 213 12993 7893-19530 4 3-6 0.43% 0.26%-0.65% 2.73 × 10 -3 -0.63 × 10 -8.83 × 10 -3
-3 -3 -3
Controls 746 12173 7523-17111 4 3-6 0.41% 0.25%-0.57% 1.51 × 10 -2.25 × 10 -5.72 × 10
-4 -3 -3
Utah Cases 321 18806 13535-24431 7 5-9 0.63% 0.45%-0.81% 3.69 × 10 -2.79 × 10 -4.71 × 10
-3
Controls 403 17452 12288-22866 6 5-8 0.58% 0.41%-0.76% 9.47 × 10 -4 -2.09 × 10 -3.89 × 10 -3
-3 -3 -3
DLBCL NCI Cases 2621 18046 12671-24990 7 5-9 0.60% 0.42%-0.83% 2.11 × 10 -1.48 × 10 -6.54 × 10
-3
Controls 6105 18199 12753-24519 7 5-9 0.61% 0.43%-0.82% 1.46 × 10 -3 -2.05 × 10 -5.39 × 10 -3
-4 -3 -3
Mayo Cases 393 16586 12167-21774 6 5-8 0.55% 0.41%-0.73% 1.67 × 10 -3.03 × 10 -3.07 × 10
-4 -3 -3
Controls 172 16451 11368-23319 6 4-8 0.55% 0.38%-0.78% 2.19 × 10 -2.55 × 10 -2.94 × 10
-3
UCSF2 Cases 253 11535 5957-19153 4 3-6 0.38% 0.20%-0.64% 1.69 × 10 -3 -1.62 × 10 -6.60 × 10 -3
-3 -3 -3
Controls 745 12182 7554-17158 4 3-6 0.41% 0.25%-0.57% 1.48 × 10 -2.20 × 10 -5.82 × 10
-3 -3 -3
GELA/EPIC Cases 547 15526 10391-21466 6 4-7 0.52% 0.35%-0.72% 1.27 × 10 -2.27 × 10 -5.00 × 10
-3
Controls 525 17327 11782-23437 6 4-8 0.58% 0.39%-0.78% 2.56 × 10 -3 -0.87 × 10 -6.14 × 10 -3
-3 -3 -3
FL NCI Cases 2085 17838 12387-24319 7 5-9 0.59% 0.41%-0.81% 1.41 × 10 -2.14 × 10 -6.15 × 10
-3
Controls 6105 18110 12753-24512 7 5-9 0.60% 0.43%-0.82% 1.49 × 10 -3 -2.06 × 10 -5.41 × 10 -3
-3
UCSF1/NHS Cases 119 17058 12645-22150 7 5-8 0.57% 0.42%-0.74% 8.51 × 10 -5 -3.57 × 10 -3.05 × 10 -3
-4 -3 -3
Controls 340 17144 12100-24513 6.5 5-9 0.57% 0.40%-0.82% 6.35 × 10 -3.05 × 10 -4.29 × 10
-3
UCSF2 Cases 209 13621 8911-19655 5 3-7 0.45% 0.30%-0.66% 3.02 × 10 -3 -1.34 × 10 -7.58 × 10 -3
-3 -3 -3
Controls 745 12071 7517-17115 4 3-6 0.40% 0.25%-0.57% 1.50 × 10 -2.16 × 10 -5.76 × 10
-3 -3 -3
SCALE Cases 371 12582 7643-19776 5 3-7 0.42% 0.25%-0.66% 3.02 × 10 -0.50 × 10 -7.52 × 10
-3
Controls 790 12132 7506-17654 5 3-6 0.40% 0.25%-0.59% 1.22 × 10 -3 -1.60 × 10 -5.00 × 10 -3
-3 -3 -3
MZL NCI Cases 808 18097 12831-24555 7 5-9 0.60% 0.43%-0.82% 1.83 × 10 -1.54 × 10 -7.30 × 10
-3
Controls 6102 18268 12811-24623 7 5-9 0.61% 0.43%-0.82% 1.46 × 10 -3 -2.01 × 10 -5.38 × 10 -3
*
Median and interquartile range are provided for runs of homozygosity, fraction of runs of homozygosity, and correlation between uniting gametes (F3). GWAS: Genome-wide association studies; IQR: interquartile
range; ROH: runs of homozygosity; FROH: fraction of runs of homozygosity; CLL: chronic lymphocytic leukemia; DLBCL: diffuse large B-cell lymphoma; FL: follicular lymphoma; MZL: marginal zone lymphoma.