A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients

Table 1 Summary of the main epidemiological variables for the pooled-DNA allelotyping GWASs (A) and validation cohorts (B)

A.
Type	Sex	Pooled-DNA GWAS
		Enrolled (Set I)			Enrolled (Set II)
		N^a	Age, range (years)	Median age (years)	N^b	Age, range (years)	Median age (years)
PSC	Females	40	12–61	31	37	17–52	31
	Males	80	9–64	26	74	9–49	26
	All	120	9–64	29	111	9–52	28
PBC	Females	420	14–85	53	407	29–80	53
	Males	0	0	0	0	0	0
		420	14–85	53	407	29–80	53
Healthy controls	Females	363	3–88	55	222	25–65	43
	Males	361	3–69	22	148	28–65	47
	All	724	3–88	50	370	25–65	44
B.
Type	Sex	Individual patient genotyping
		Enrolled
		N	Age, range (years)		Median age (years)
PSC	Females	41	17–52		31
	Males	98	9–64		26
	All	139	9–64		29
PBC	Females	443	14–85		54
	Males	0	0		0
		443	14–85		54
Healthy controls	Females	512	23–75		48
	Males	422	27–78		48
	All	934	23–78		47

Panels indicate the number of patients enrolled in the GWAS (N^a) after excluding microarrays that did not meet quality control criteria based on principal component analysis results (N^b) that included validation and replication analyses performed using respective individual patient TaqMan genotyping (N). The range and median values are the ages of cases and controls in the respective groups in years

ISSN: 1755-8794