Genome-wide association analysis of metabolic syndrome quantitative traits in the GENNID multiethnic family study

Table 4 Proxy QTNs in linkage disequilibrium (LD) with significantly-associated MetS QTNs

Ethnic group	Trait	QTN significantly associated with trait in Table 2		Proxy QTN (rsid)	CHR	bp (GRCh37)	Distance (bp)	MAF (%)^a	r² (LD)	Correlated alleles (significant QTN = proxy QTN)	RegulomeDB^b	Gene: function
Ethnic group	Trait	Significant QTN (rsid)	Gene: function	Proxy QTN (rsid)	CHR	bp (GRCh37)	Distance (bp)	MAF (%)^a	r² (LD)	Correlated alleles (significant QTN = proxy QTN)	RegulomeDB^b	Gene: function
AA	log(TG)	rs114606502	TMEM132D: intronic	rs142863227	12	130,094,067	23,285	0.4	1	T = G C = C	4	TMEM132D: intronic
AA	log(TG)	rs114606502	TMEM132D: intronic	rs116163662	12	130,114,869	2483	0.5	0.83	T = G C = A	3a	TMEM132D: intronic
EA	log(TG)	rs1260326	GCKR: exonic, Nonsynonymous	rs780094	2	27,741,237	10,297	41	0.91	T = T C = C	2c	GCKR: intronic
JA	Weight	rs2302308, rs74398478, rs17051338, rs77438622, rs77006299	QRFPR: intronic	rs55975435	4	122,254,014	6028	12	0.98	T = A G = G	7	QRFPR: exonic, synonymous

AA African Americans, EA European Americans, JA Japanese Americans, MA Mexican Americans
^aMinor allele frequency (MAF) from 1000G corresponding reference group: AFR (for AA GENNID), EAS (for JA GENNID), EUR (for EA GENNID)
^bRegulomeDB rank is defined by the following supporting data for evidence of regulatory effects: 2c: TF binding + matched TF motif + DNase peak; 3a: TF binding + any motif + DNase peak; 4: TF binding + DNase peak; 7: other; see https://www.regulomedb.org/regulome-help/

ISSN: 1758-5996