Neurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study

Table 1 Demographics and characteristics of included patients and healthy control, n (%)

Variables	HSCR (n = 1470)	HC (n = 1473)	P value
Age (month)	8.37 ± 20.50	18.61 ± 19.75	< 0.05
< 2	745 (50.68)	1015 (68.91)
≥ 2	725 (49.32)	458 (31.09)
Sex			< 0.05
Male	1230 (83.67)	506 (34.35)
Female	240 (16.33)	967 (65.65)
HSCR subtype
S-HSCR	1033 (70.27)
L-HSCR	294 (20.00)
TCA	82 (5.58)
TIA	3 (0.2)

HC: Healthy control; HSCR: Hirschsprung disease; L-HSCR: Long segment Hirschsprung disease; S-HSCR: Short-segment Hirschsprung disease; TCA: Total colonic aganglionosis; TIA: Total intestine aganglionosis.

Table 2 Correlation between the NTF3 rs1805149A>G polymorphism and sensitivity of Hirschsprung disease

SNP	A1/A2	Test	Affected (cases)	Unaffected (controls)	P value1	OR	95%CI	P value2
rs1805149	A/G	Additive	424/2434	428/2490	0.8569	1.00	0.86-1.16	0.9942
		Genotypic	27/370/1032	34/360/1065	0.564	NA	NA	0.5586
		Dominant	397/1032	394/1065	0.6397	1.03	0.87-1.21	0.768
		Recessive	27/1402	34/1425	0.4108	0.78	0.46-1.31	0.3487

¹χ² test of the distribution of genotype between patients with Hirschsprung disease and controls.

²Adjusted P value for bias factor including age and sex.

SNP: Single nucleotide polymorphism is located; OR: Odds ratio; 95%CI: 95% confidence interval.

Table 3 Stratification analysis of the association between NTF3 rs1805149A>G polymorphism and sensitivity of Hirschsprung disease by subtypes

CHR	SNP	Subtype	Affected (cases)	Unaffected (controls)	P value1	OR	95%CI	P value2
12	rs1805149	S-HSCR	311/1709	428/2490	0.4824	1.05	0.89-1.24	0.5454
		L-HSCR	72/494	428/2490	0.2273	0.84	0.64-1.10	0.2088
		TCA	23/137	428/2490	0.9192	0.97	0.62-1.52	0.8858

¹χ² test of the distribution of genotype between patients with Hirschsprung disease and controls.

²Adjusted P value for bias factor including age and sex.

CHR: Chromosome; SNP: Single nucleotide polymorphism is located; OR: Odds ratio; 95%CI: 95% confidence interval.