Genomics|Population Research|U.S. Genome Variation Estimates|Table 2|Genes Available by Pathway

U.S. Genome Variation Estimates

Genes Available by Pathway

Table 2 - Genes Available, By Pathway
[View Table 1 - Genetic Variants Available, By Gene]

These candidate genes have a role in numerous cellular and physiologic pathways, as well as in multiple diseases and outcomes
of public health importance. The pathways listed are not mutually exclusive. The inclusion of genes in certain pathways was based on information gathered from the GeneCards database ,
the KEGG GENES database , and selected publications, for ACE
(1, 2), CAPN10 (3), and SERPINE1 (4-6).

The genes have a proposed or established association with the listed diseases and clinical outcomes, but the
genetic associations are not limited to these diseases.

Pathway	Gene	Associated Disease/Outcome
Apoptosis, Cell cycle, Cellular growth and differentiation	CAPN10 IL10 IL1B IL4 IL4R ITGB3 PPARG TGFB1 TNF VDR	Cancer Infectious disease Neurodegenerative disease Obesity Osteoporosis Type 2 diabetes
Blood pressure regulation, Cardiac function	ACE ADRB1 ADRB2 NOS2A NOS3	Cardiovascular disease Renal disease Type 2 diabetes
Cellular adhesion, Cell migration/motility	CCL5 CCR2 CXCL12 F2 FGB ITGA2 ITGB3 SERPINE1	Cancer Cardiovascular disease Infectious disease
DNA repair	OGG1 XRCC1	Cancer
Hemostasis	F2 F5 FGB ITGA2 ITGB3 NOS3 SERPINE1	Cardiovascular disease
Immunity and inflammation	CCL5 CCR2 CXCL12 FCGR2A IL10 IL1B IL4 IL4R MBL2 NOS2A PPARG TGFB1/B9D2¶ TLR4 TNF VDR	Asthma Cancer Cardiovascular disease Infectious disease Renal disease Rheumatoid arthritis Type 2 diabetes
Metabolism of free radicals/Oxidative stress	CAT NOS2A NOS3 PON1	Cancer Cardiovascular disease Infectious disease Neurodegenerative disease Renal disease Type 2 diabetes
Nutrient metabolism	ACE ADH1B ADH1C ADRB1 ADRB2 ADRB3 ALAD CAPN10 CAT CBS CYP1A1 CYP1A2 CYP1B1 CYP2A6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 MTHFR MTRR NOS2A NOS3 NQO1 PPARG SERPINE1 TNF VDR	Asthma Birth defects Cancer Cardiovascular disease Neurodegenerative disease Obesity Osteoporosis Renal disease Type 2 diabetes
Xenobiotic metabolism	ABCB1 ADH1B ADH1C ALAD CYP1A1 CYP1A2 CYP1B1 CYP2A6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 NAT2 NQO1 PON1	Asthma Cancer Cardiovascular disease Drug and alcohol dependency Drug/pharmacological adverse reactions Neurodegenerative disease Rheumatoid arthritis

¶ B9D2 is a protein that lies partially within the TGFB1 promoter. The variants genotyped lie within B9D2 but are believed to be promoter polymorphisms of TGFB1.

References

Hu J, Igarashi A, Kamata M, et al. Angiotensin-converting enzyme degrades Alzheimer amyloid beta-peptide (A beta ); retards A beta aggregation, deposition, fibril formation; and inhibits cytotoxicity. J Biol Chem 2001;276:47863-8.
Sayed-Tabatabaei FA, Oostra BA, Isaacs A, et al. ACE polymorphisms. Circ Res 2006;98:1123-33.
Turner MD, Cassell PG, Hitman GA. Calpain-10: from genome search to function. Diabetes Metab Res Rev 2005;21:505-14.
Durand MK, Bodker JS, Christensen A, et al. Plasminogen activator inhibitor-I and tumour growth, invasion, and metastasis. Thromb Haemost 2004;91:438-49.
Lijnen HR. Pleiotropic functions of plasminogen activator inhibitor-1. J Thromb Haemost 2005;3:35-45.
Alessi MC, Juhan-Vague I. PAI-1 and the metabolic syndrome: links, causes, and consequences. Arterioscler Thromb Vasc Biol 2006;26:2200-7.