Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population

BMC Medical Genetics

Table 1 Replication results on two selected SNPs in DSCAM in South Chinese population using 1470 cases and 943 controls

SNP	Chr	BP	Gene	feature	left_gene	right_gene	A1/A2	F_A	F_U	P	OR	95% CI
P_hwe = 0.05							G/A
rs2837770	21	40,956,222	DSCAM	intron[NM_001389.3]	PCP4	BACE2	ADD	1169/1619	860/1026	1.25E-02	1.16	(1.03~ 1.31)
							GENO	251/667/476	181/498/264	7.08E-03	–	–
							DOM	918/476	679/264	4.68E-01	1.08	(0.88~ 1.34)
							REC	251/1143	181/762	1.74E-03	1.33	(1.11~ 1.58)
rs8134673	21	40,970,181	DSCAM	intron[NM_001389.3]	PCP4	BACE2	ADD	1184/1604	867/1019	1.69E-02	1.16	(1.03~ 1.31)
							GENO	255/674/465	184/499/260	1.21E-02	–	–
							DOM	929/465	683/260	4.59E-01	1.08	(0.88~ 1.34)
							REC	255/1139	184/759	3.05E-03	1.32	(1.10~ 1.58)

SNP Single Nucleotide Polymorphism, Chr Chromosome, BP Base pair of where the SNP is located, Gene The gene where the SNP located to; Feature: the feature of the variants in the gene;left/right_gene: the upstream/ downstream gene where the variant located; A1/A2 indicates the risk allele and protective allele to disease; F_A/F_U indicates risk allele numbers of the SNP in cases or controls. The P value indicates the significance based on different association tests. The calculation of odds ratio (OR) and the 95% confidence of intervals (CI) is also based on the risk allele of each SNP

ISSN: 1471-2350