Integrated epigenome, whole genome sequence and metabolome analyses identify novel multi-omics pathways in type 2 diabetes: a Middle Eastern study

Table 5 Mendelian randomization results for associations of HK1 and PFKB2 with HbA1c

Gene	SNP	CpG	Input				Two sample Mendelian Randomization
Gene	SNP	CpG	Bx*	Bxse*	By*	Byse*	Estimate	SE	CI	p-value
HK1	rs7909192	cg08992189	-100.2	16.1	0.08	0.0022	-0.00079	1.3E-04	[-0.001, -0.0005]	8.6E-10
HK1	rs75743765	cg08992189	-73.5	9.8	0.0456	0.0036	-0.0006	9.6E-05	[ -0.0008, -0.0004]	1.2E-10
HK1	rs11596193	cg08992189	-86.6	11.3	0.0277	0.004	-0.0003	6.2E-05	[-0.0004, -0.00019]	2.8E-07
HK1	rs7909192, rs75743765, rs11596193	cg08992189	~	~	~	~	-0.0007	1.8E-05	[-0.0007, -0.0006]	0†
PFKFB2	rs1060286	cg22699725	65.04	10.10	-0.013	0.002	-0.00019	4.4E-05	[-0.0002, -0.0001]	4.7E-06

^*x is considered the exposure (CpG) obtained from meQTL statistics in our cohort and y is considered the outcome obtained from GWAS databases (GWAS catalogue or Stanford portal). Bx and Bxse stand for effect size and standard error for x, and similar symbols are used for y
^† Results for the 3 SNPs are from the inverse variance weighted method rather than the maximum likelihood method used for single SNPs. Heterogeneity score (I2) is 90.34007, p = 2.4E-20

ISSN: 1741-7015