The impact of methylation quantitative trait loci (mQTLs) on active smoking-related DNA methylation changes

Clinical Epigenetics

Table 3 Five frequently reported (≥ 6) CpG sites and corresponding mQTLs

CpG site	Frequency^a	Gene	Chr	SNP	SNP position^b	Minor allele	Distance (bp)^c	FDR^d	MAF^e
cg03636183	12	F2RL3	19	rs2227357	17,003,553	A	2967	0.048	0.125
cg05951221	8	2q37.1	2	rs790051	30,718,035	A	− 1866	6.2 e − 4	0.226
cg06126421	7	6p21.33	6	rs2535324	30,727,983	C	− 2046	1.8 e − 9	0.3
				rs3095339	30,728,290	G	7902	2.6 e − 4	0.252
				rs3131036	30,728,360	A	8209	2.6 e − 4	0.253
				rs3094122	30,737,552	G	8279	3.2 e − 3	0.206
				rs13217914	30,739,657	A	17,471	2.4 e − 21	0.157
				rs6911571	30,753,639	T	19,576	0.007	0.16
				rs4713361	30,756,066	A	33,558	1.3 e − 21	0.159
				rs13201769	30,718,035	A	35,985	6.9 e − 7	0.326
cg03329539	6	2q37.1	2	rs790051	233,282,536	A	− 793	0.031	0.226
				rs34547337	233,300,755	T	17,426	1.5 e − 5	0.314
cg14817490	6	AHRR	5	rs75509302	365,653	C	− 27,267	0.002	0.144
				rs11746079	410,980	C	18,060	1.5 e − 3	0.154
				rs72717419	431,996	T	39,076	0.021	0.207
				rs2672725	434,981	G	42,061	0.042	0.117

^aThe reported times of CpG in previous studies (based on systematic review [25])
^bPositions of CpG sites and SNPs were based on GRCh37/hg19
^cThe distance between SNP and CpG (SNP position–CpG position)
^dThe FDR-corrected p values of SNPs in fully adjusted mixed linear regression models, which controlled for age (years), sex, smoking status, random batch effect of methylation measurement, leukocyte distribution (Houseman algorithm), alcohol consumption (abstainer/low/intermediate/high), body mass index (BMI, underweight or normal weight/overweight/obese), physical activity (inactive/low/medium or high), prevalence of cardiovascular diseases (yes/no), prevalence of diabetes (yes/no), and prevalence of cancer (yes/no)
eMAF minor allele frequency

ISSN: 1868-7083