Genetic polymorphisms in Sox17 associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study

Figures & data

Table 1 The distribution of sporadic IA and control cases

	Sporadic IA	Control cases	P-value
N	595	600
Women, n (%)	342 (57.5)	219 (36.5)	<0.001
Age, years
Mean ± SD	60.93±11.93	43.50±11.04
Range	17–91	25–94
Risk factors
Hypertension, n (%)	342 (57.5)	122 (20.3)	<0.001
Hyperglycemia, n (%)	51 (8.6)	46 (7.7)	<0.001
Smoke, n (%)	170 (28.6)	191 (31.8)	<0.001
Drink, n (%)	82 (13.8)	191 (31.8)	<0.001

Abbreviation: IA, intracranial aneurysm.

Table 2 Genotype statistics

SNP	Mutant type	Wild type	IA group			Control group
	A1	A2	A1A1	A1A2	A2A2	A1A1	A1A2	A2A2
rs1072737	G	T	21	180	372	16	152	424
rs9298506	G	A	30	164	363	44	217	323

Note: A1 and A2 are allelic genes, A1 is the mutant type, A2 is wild type.

Abbreviations: SNP, single nucleotide polymorphism; IA, intracranial aneurysm.

Table 3 Hardy–Weinberg equilibrium

SNP	Test	A1	A2	Genotype (A1A1/A1A2/A2A2)	O(HET)	E(HET)	P-value
rs1072737	ALLa	G	T	37/332/796	0.285	0.2878	0.7598
rs1072737	AFFb	G	T	21/180/372	0.3141	0.3124	1
rs1072737	UNAFFc	G	T	16/152/424	0.2568	0.2625	0.6376
rs9298506	ALL	G	T	74/381/686	0.3339	0.3562	0.03755
rs9298506	AFF	G	T	30/164/363	0.2944	0.3213	0.04868
rs9298506	UNAFF	G	T	44/217/323	0.3716	0.3859	0.3907

Notes:

a All cases;

b Case group;

c Control group.

Abbreviations: O(HET), observed heterozygosity; E(HET), expected heterozygosity; SNP, single nucleotide polymorphisms.

Table 4 Chi-squared test and logistic regression (add model) with multiple-testing correction

SNP	UNADJ	OR	GC	BONF	HOLM	SIDAK_SS	SIDAK_SD	FDR_BH	FDR_BY
Chi-squared test
rs9298506	0.000679	0.7121	0.001599	0.01696	0.017	0.01683	0.01683	0.01696	0.06473
rs1072737	0.0148	1.306	0.02359	0.3699	0.3403	0.3111	0.2903	0.1233	0.4705
Logistic regression (add model)
rs9298506	0.001032	0.7253	0.001032	0.03097	0.031	0.03051	0.03051	0.03097	0.1237
rs1072737	0.01559	1.303	0.01559	0.4676	0.4364	0.3758	0.3559	0.1559	0.6227

Abbreviations: UNADJ, unadjusted P-value; GC, genomic-control corrected P-values; BONF, Bonferroni single-step adjusted P-values; HOLM, Holm (1979) step-down adjusted P-values; SIDAK SS, Sidak single-step adjusted P-values; SIDAK SD, Sidak step-down adjusted P-values; FDR_BH, Benjamini and Hochberg²³ step-up FDR control; FDR_BY, Benjamini and Yekutieli²⁴ step-up FDR control.

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