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. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Obesity (Silver Spring). 2013 May 29;21(10):2099–2111. doi: 10.1002/oby.20324

Table 6. Summary illustrating the prioritized genes at 3q27 and 17p12 QTLs.

For prioritized genes see Table 2 and 3. For phenotype abbreviations, see Table 1. Identifier phenotype is the one that was highly associated with a SNP that mapped to that gene. Correlated phenotypes are those that were found to be genetically correlated significantly with the identifier phenotype.

Annotated
associated
genes
Original
QTL
region
Identifier
phenotype
Correlated biological
phenotypes
Biological function
LPPab 3q27 AIR Fatkg, DI, leptin signal transduction to celll adhesion sites; cell
to cell communication
IGF2BP2ab 3q27 WHR VF, TAF, REE, HMED, LMEDn,
LDLppd, BMED,TNF-alpha
neonatal development, body fat regulation
and lipid metabolism
TBL1XR1a 3q27 BMI, weight,
Leanpct,
TAF,
REE,SG, TG
WHR, Fatkg, Fatpct, Leankg,
Leanpct, SubQF, VF,
REE/weight, REE/Leanmass,
SI, AIR, DI, HMED, leptin, IL-6
member of WD40 protein family known to
regulate signal transduction, RNA processing,
vesicular trafficking, cytoskeletal assembly
and
cytotypic differentiation.
NLGN1a 3q27 Leankg Fatkg, SubQF, VF, TAF, REE,
REE/weight, REE/leanmass, SI,
AIR, HMED
member of a family of neuronal cell surface
proteins, known to act as splice
site-specific ligands for beta-neurexins that
could be involved in the formation and
remodeling of central nervous system
ATP11Ba 3q27 LDLppd WHR, Fatkg, HMED,BMED,TNF-
alpha
member of the ATPase family that participate
the uphill transport of ions across cell
membranes, including H+,Na+, K+ and Ca++
MCF2L2a 3q27 Pulse Leankg, SubQF, TAF, REE, SI,
adiponectin, leptiin
member of the guanine exchange factor
family. Together with ADIPQ, SOX2
polymorphism influence diabetic
complications.
FGF12 3q27 IL-6 VF Member of the fibroblast growth factor family
possess
broad mitogenic and cell survival
activities,involved in several biological
functions.
TNFRSF13B
ab
17p12 VF, TAF,
REE, sBP
weight, BMI, WC, HC,
WHR,Fatkg,Fatpct,Leankg,Leanpc
t,SubQF,REE/weight, FI, IGR,,
HOMA, SI,SG,DI, HDL-c,
dBP,pulse, leptin, IL-6
A lymphocyte-specific member of the
tumor necrosis factor (TNF) receptor
superfamily, which plays a crutial role in
humoral immunity.
HS3ST3A1ab 17p12 HC, Fatkg,
Leankg, FI,
IGR, HOMA,
SG, AIR,
Adiponectin,
TNF-alpha
weight, height,, BMI, WC,
WHR,SubQF,VF, TAF,RQ, REE,
REE/weight, REE/leanmass, FG,
SI, DI,TG,TC, LDL-c, cal. LDL-c,
HDL-c, HMED, LMEDn, LDLppd,
BMED, sBP,pulse, leptin, IL-1β, IL-
6
A biosynthesis enzyme of heparan
sulfate find structures, whose substrates
are important in the cellular uptake and
biological effects of the lipoproteins that
carry out multiple biologic activities.
MYOCDa 17p12 Weight,
BMI, WC,
DI, TC, cal.
LDL-c, dBP
height, hips,WHR, Fatkg, Fatpct,
Leankg, Leanpct, SubQF,
VF,TAF,REE, REE/weight,
REE/leanmass, FI, IGR, HOMA,
SI,SG, AIR,TG, LDL-c, HDL-c,
HMED, sBP, pulse, leptin, IL-6
A nuclear protein, a transcriptional coactivator
that modulates the function of
cardiac and smooth-muschle cells.
Important in cardiogenesis and smooth
muscle cell differentiation.
RICH2a 17p12 Fatpct, TG weight, BMI, WC,HC,WHR,
Fatkg,Leanpct, SubQF, VF, TAF,
REE,
REE/weight,REE/leanmass,FI,
IGR, HOMA, SI,AIR,TC,HDL-c,
leptin
GTPase activator protein, which activate
CDC42 and Rac-1, known to interfere
with platelet growth factor BB-induced
membrane ruffling.
TRPV2a 17p12 RQ Pulse A channel protein in response to
environmental stresses.
COX10a 17p12 FG FI, HOMA, AIR, leptin The terminal component of the
mitochodrial respiratory chain, which
catalyzes the electron
transfer from reduced cytochrome c to
oxygen. Mutations were linked to
cytochrome c function deficiency.
PMP22a 17p12 SI, HMED weight, BMI, WC, HC, WHR,
Fatkg, Fatpct,Leankg,
Leanpct,SubQF, VF, TAF,
REE/weight, FI, IGR, HOMA, TG,
HDL-c, LMEDn, LDLppd,
BMED,pulse
the major component of the myelin
structure in the peripheral nervous
system that might function in growth
regulation, and in myelinization in the
peripheral nervous system
MPRIPa 17p12 LMEDn,
LDLppd,
BMED
WHR,Fatkg, FI, IGR, HOMA, TG,
HDL-c, HMED,TNF-alpha
Target myosin phosphatases interacting
with RhoA and ROCK1 to regulate actin
cytoskeleton.
COPS3 17p12 IL-6 BMI, VF The protein encoded by this gene
possesses kinase activity that
phosphorylates regulators involved in
signal transduction and protects proteins
from ubiquitin-dependent degradation.
a

Candidate genes prioritized from SNP association analysis whose transcript levels are associated with MetS phenotypes

b

Biologic candidate gens with the highest prioritization