Table 6. Summary illustrating the prioritized genes at 3q27 and 17p12 QTLs.
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. |
Candidate genes prioritized from SNP association analysis whose transcript levels are associated with MetS phenotypes
Biologic candidate gens with the highest prioritization