Table 1. Allele frequency and odds ratio... | American Society of Hematology

Table 1.

Allele frequency and odds ratio of ITGB2 p.E573K in cases and controls from different cohorts

Case cohort	Control cohort	Allele frequency in cases (%)	Allele frequency in controls (%)	Fisher’s OR (95% CI)	Fisher’s P
Tiao et al⁴ unrelated CLL cases (familial and sporadic, n = 646)	8920 ethnically matched European control samples⁴	7/1108* (0.63)	68/17 338* (0.39)	1.62 (0.73-Inf)	.163
Goldin et al¹ families (n = 171; 59 families)	N/A	Not reported (6 families with ≥1 carrier/individual)	N/A	N/A	N/A
Goldin et al¹ unrelated CLL clinic patients (n = 173)	Exome Aggregation Consortium (non-Finnish European)³	3/346 (0.87)	461/62 646† (0.74)	1.21 (0.32-Inf)	.456

Case cohort	Control cohort	Allele frequency in cases (%)	Allele frequency in controls (%)	Fisher’s OR (95% CI)	Fisher’s P
Tiao et al⁴ unrelated CLL cases (familial and sporadic, n = 646)	8920 ethnically matched European control samples⁴	7/1108* (0.63)	68/17 338* (0.39)	1.62 (0.73-Inf)	.163
Goldin et al¹ families (n = 171; 59 families)	N/A	Not reported (6 families with ≥1 carrier/individual)	N/A	N/A	N/A
Goldin et al¹ unrelated CLL clinic patients (n = 173)	Exome Aggregation Consortium (non-Finnish European)³	3/346 (0.87)	461/62 646† (0.74)	1.21 (0.32-Inf)	.456

CI, confidence interval; Inf, infinity; N/A, not applicable; OR, odds ratio.

Only patients who had coverage at the genomic site of interest sufficient to make a high-confidence genotype call were included.

Control cohort included 5 individuals homozygous for p.E573K.