Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses

Table 2 Top ten promising SNPs identified in univariable analysis and the subsequent multivariable analysis under their plausible genetic models

					Univariable		Multivariable^e
Genomic location	SNP ID (Genotype^a)	Gene^b	Information in RegulomeDB	Plausible model^c	OR (95% CI)	p-value	OR (95% CI)	p-value
Chr6:110750552	rs9481067 (GG)	SLC22A16	ND	Recessive	4.17 (2.33–7.43)	1.24E-06	4.75 (2.53–8.95)	1.24E-06
Chr3:114121019	rs10511330 (CT + CC)	ZBTB20	Minimal binding evidence	Dominant	3.77 (2.06–6.81)	1.24E-05	4.85 (2.54–9.23)	1.40E-06
Chr3:114117327	rs16822593 (AG + AA)	ZBTB20	ND	Dominant	3.70 (2.02–6.68)	1.59E-05	4.83 (2.53–9.20)	1.50E-06
Chr2:179860562	rs13019215 (TC + TT)	CCDC141	ND	Dominant	0.27 (0.14–0.48)	1.56E-05	0.23 (0.12–0.43)	8.20E-06
Chr2:179867985	rs12471607 (TC + TT)	CCDC141	ND	Dominant	0.27 (0.14–0.48)	1.65E-05	0.23 (0.12–0.43)	8.42E-06
Chr5:80483574	rs716897 (CT + CC)	RASGRF2	Minimal binding evidence	Dominant	0.27 (0.15–0.47)	5.33E-06	0.26 (0.14–0.47)	1.12E-05
Chr16:86077637	rs4843335 (AG + AA)	intergenic	Minimal binding evidence	Dominant	4.11 (2.11–7.79)	2.06E-05	4.67 (2.98–9.34)	1.48E-05
Chr6:118634698	rs11968293 (CA + CC)	SLC35F1	Minimal binding evidence	Dominant	0.28 (0.16–0.50)	1.27E-05	0.26 (0.14–0.48)	1.48E-05
Chr9:131923949	rs4837345 (TT)	intergenic	Minimal binding evidence	Recessive	4.72 (2.40–9.05)	4.00E-06	4.56 (2.24–9.11)	1.97E-05
Chr9:131930494	kgp10457679/ rs10819474^d (CC)	intergenic	Likely to affect binding and linked to expression of a gene target	Recessive	4.72 (2.40–9.05)	4.00E-06	4.56 (2.24–9.11)	1.97E-05

^aRisk increasing/decreasing genotype. ^bBased on Ensembl [51] or dbSNP databases [61]. ^cUnder the recessive genetic model, minor allele homozygous patients are compared to major allele homozygous and heterozygous patients combined. Under the dominant genetic model, minor allele homozygous and heterozygous patients are combined and compared to major allele homozygous patients. ^dThe rs number for the kgp10457679 polymorphism was obtained from the UCSC genome browser [62]. ^eMultivariable models adjusted for sex, age at diagnosis, stage, tumor location, and tumor grade. Patients with missing/unknown data for any of these variables were excluded from the analysis. Chr chromosome, CI confidence interval, ND data not available at RegulomeDB, OR odds ratio (compares the odds of having mucinous tumors with the specified genotype(s)^a to the odds of having mucinous tumors with the reference (other) genotype(s))

ISSN: 2050-7771