TABLE 7-1Potential Candidate Genes for Preterm Births

Gene No. and PathwayGene NameGeneChromosome Location
Inflammatory pathway
1Colony-stimulating factor 1CSF11p21-p13
2Colony-stimulating factor 1 receptorCSF1R5q33-q35
3Colony-stimulating factor 2CSF25q31.1
4Colony-stimulating factor 2 receptor alphaCSF2RAXp22.32 and Yp11.3
5Colony-stimulating factor 2 receptor betaCSF2RB22q13.1
6Colony-stimulating factor 3CSF317q11.2-q12
7Colony-stimulating factor 3 receptorCSF3R1p35-p34.3
8Interferon gamma receptor 1IFNGR16q23-q24
9Interleukin-1αIL1A2q14
10Interleukin-1 receptor type IIL1R12q12
11Interleukin-1 receptor type IIIL1R22q12-q22
12Interleukin-1 receptor antagonistIL1RN2q14.2
13Interleukin-1βIL1b2q14
14Interleukin-2IL24q26-q27
15Interleukin-2 receptor alphaIL2RA10p15-p14
16Interleukin-2 receptor betaIL2RB22q13.1
17Interleukin-4IL45q31.1
18Interleukin-4 receptorIL4R16p11.2-12.1
19Interleukin-5IL55q31.1
20Inteleukin-6IL67p21
21Interleukin-6 receptorIL6R1q21
22Interleukin-8IL84q13-q21
23Interleukin-8 receptor alphaIL8RA2q35
24Interleukin-10IL101q31-q32
25Interleukin-10 receptor alphaIL10RA11q23
26Interleukin-10 receptor betaIL10RB21q22.11
27Interleukin-11IL1119q13.3-q13.4
28Interleukin-12AIL12A3p12-q13.2
29Interleukin-13IL135q31
30Interleukin-15IL154q31
31Interleukin-17IL176p12
32Interleukin-18IL1811q22.2-q22.3
33Lymphotoxin alphaLTA6p21.3
34Lymphotoxin betaLTB6p21.3
35Nitric oxide synthase 2ANOS2A17q11.2-q12
36Nitric oxide synthase 3NOS37q36
37Tumor necrosis factor alphaTNFA6p21.3
38Type 1 tumor necrosis factor alpha receptorTNFR112p13.2
39Type 2 tumor necrosis factor alpha receptorTNFR21p36.3-p36.2
40Tumor necrosis factor receptor superfamily member 6TNFRSF610q24.1
41Type 1 tumor necrosis factor receptor shedding aminopeptidase regulatorARTS-15q15
42Gamma interferonIFN-?12q14
43Gamma interferon receptor 1IFNGR16q23-q24
44Neurotrophin-3NT-312p13
45Neurotrophin-5NT-519q13.3
46Triggering receptor expressed on myeloid cells 1TREM-16p21.1
47Migration inhibitory factorMIF22q11.23
48Pre-B-cell colony-enhancing factor 1PBEF17q22.3
49Nuclear factor kappa BNF-Kb4q24
50B-cell activating factorBAFF13q32-34
51Toll-like receptor 2TLR24q32
52Toll-like receptor 3TLR34q35
53Toll-like receptor 4TLR49q32-q33
54Toll-like receptor 5TLR51q41-q42
55Toll-like receptor 7TLR7Xp22.3
56Toll-like receptor 8TLR8Xp22
57Toll-like receptor 9TLR93p21.3
58CC chemokine receptor 5CCR53p21
59T-cell immunomodulatory proteinCDA0816q12.1
60Monocyte chemoattractant protein 1MCP-117q11.2-q12
61Monocyte chemoattractant protein 2MCP-217q11.2
62Macrophage inflammatory protein-1αMIP-1a17q11-q21
63Macrophage inflammatory protein-1βMIP-1b17q12
64Intercellular adhesion molecule-1ICAM-119p13.3-p13.2
65ProlactinPRL6p22.2-p21.3
66Prolactin receptorPRLR5p14-p13
67Transforming growth factor β1TGFB119q13.1
68Transforming growth factor β2TGFB21q41
69Transforming growth factor β3TGFB314q24
70Transforming growth factor receptor beta receptor ITGFBR19q22
71Transforming growth factor receptor beta receptor IITGFBR23P22
72Platelet-activating factorPTAF
73Platelet-activating factor receptorPTAFR1p35-p34.3
74Guanine nucleotide binding protein, beta polypeptide 3GNB312p13
Uteroplacental pathway
1Coagulation factor IIF211p11-q12
2Coagulation factor VF51q23
3Protein CPROC2q13-q14
4β2-Adrenergic receptorBeta2-AR5q31-q32
5Vascular endothelial growth factorVEGF6p12
8AngiotensinogenAGT1q42-q43
9Apolipoprotein EAPOE19q13.2
10Methylenetetrahydrofolate reductaseMTHFR1p36.3
11Methylenetetrahydrofolate homocysteine methyltransferaseMTR1q43
Endocrine pathway
1Corticotropin-releasing hormone binding proteinCRHBP5q11.2-q13.3
2AdrenocorticotropinACTH2p23.3
3Corticotropin-releasing hormoneCRH8q13
4Corticotropin-releasing hormone receptor 1CRHR117q12-q22
5Corticotropin-releasing hormone receptor 2CRHR27p14.3
6Estrogen receptor 1ESR16q25.1
7Estrogen receptor 2ESR214q23.2
8Brain-derived neurotrophic factorBDNF11p13
9Dopamine receptor D2DRD211q23
10Progesterone receptorPGR11q22-q23
Uterine contraction
1Prostaglandin E receptor 2PTGER214q22
2Prostaglandin E receptor 3PTGER31p31.2
3Prostaglandin E synthasePTGES9q34.3
4Prostaglandin F receptorPTGFR1p31.1
5Cyclooxygenase 1COX-19q32-q33.3
6Cyclooxygenase 2 (inducible)COX-21q25.2-q25.3
7OxytocinOXT20p13
8Oxytocin receptorOXTR3p25
9Matrix metalloproteinase 1MMP111q22.3
10Matrix metalloproteinase 2MMP216q13-q21
11Matrix metalloproteinase 3MMP311q22.3
12Matrix metalloproteinase 8MMP811q22.3
13Matrix metalloproteinase 9MMP920q11.2-q13.1
14Relaxin 1RLN19p24.1
15Relaxin 2RLN29p24.1
16Relaxin 3RLN319p13.2
Metabolic pathway
1Glutathione S-transferase θGSTT1
2Opioid receptor, mu 1OPRM16q24-q25
3N-Acetyltransferase 1NAT18p23.1-p21.3
4N-Acetyltransferase 2NAT28p22
5Cytochrome P450, family 1, subfamily A, polypeptide 1CYP1A115q22-q24
6Cytochrome P450, family 2, subfamily A, polypeptide 6CYP2A619q13.2
7Cytochrome P450, family 2, subfamily D, polypeptide 6CYP2D622q13.1
8Cytochrome P450, family 2, subfamily E, polypeptide 1CYP2E110q24.3-qter
9Heat shock protein 70Hsp-706p21.3
10Alcohol dehydrogenase 1AADH1A4q21-q23
11Alcohol dehydrogenase 1BADH1B4q21-q23
12Alcohol dehydrogenase 1CADH1C4q21-q23
13Aldehyde dehydrogenaseALDH212q24.2

From: 7, Role of Gene-Environment Interactions in Preterm Birth

Cover of Preterm Birth
Preterm Birth: Causes, Consequences, and Prevention.
Institute of Medicine (US) Committee on Understanding Premature Birth and Assuring Healthy Outcomes; Behrman RE, Butler AS, editors.
Washington (DC): National Academies Press (US); 2007.
Copyright © 2007, National Academy of Sciences.

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