Molecular epidemiology of preterm delivery: methodology and challenges

Paediatric and Perinatal Epidemiology - Tập 15 Số s2 - Trang 63-77 - 2001
X Wang1, Barry Zuckerman, Gretchen E. Kaufman, Paul H. Wise, Michael J. Hill, Ting Niu, Louise Ryan, Dandan Wu, Xin Xu
1Department of Pediatrics, Boston University School of Medicine, 91 E. Concord Street, Boston, MA 02118, USA. [email protected]

Tóm tắt

Preterm delivery (PTD) appears to be a complex trait determined by both genetic and environmental factors. Few studies have examined genetic influence on PTD. The overall goal of our study is to examine major candidate genes of PTD and to test gene–environment interactions. Our study includes 500 preterm trios, including 500 preterm babies and their parents and 500 maternal age‐matched term controls. We will perform the transmission/disequilibrium test (TDT) on candidate genes thought to be important in each of the four biological pathways of PTD: (1) decidual chorioamionotic inflammation: interleukin 1 (IL‐1), IL‐6, and tumour necrosis factor (TNF); (2) maternal and fetal stress: corticotropin‐releasing hormone (CRH); (3) uteroplacental vascular lesions: methylenetereahydrofolate reductase (MTHFR); and (4) susceptibility to environmental toxins: GSTM1, GSTT1, CYP1A1, CYP2D6, CYP2E1, NAT2, NQO1, ALDH2, and EPHX. We will also perform standard case‐control analyses on the 500 preterm cases and 500 term controls to examine gene–environment interactions. The major environmental, nutritional and social factors as well as clinical variables known or suspected to be associated with PTD will be used to test for gene–environment interactions. This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene–environment interactions.

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Tài liệu tham khảo

10.1542/peds.102.6.1333

Kramer MS., 1987, Intrauterine growth and gestational duration determinants., Pediatrics, 80, 502, 10.1542/peds.80.4.502

10.1056/NEJM199801013380103

10.1056/NEJM199807303390506

10.2105/AJPH.88.2.233

10.1056/NEJM200002243420802

10.1016/0002-9378(93)90087-Y

10.1136/bmj.3.5932.659

10.1080/03014469300002662

10.1016/S0029-7844(97)00215-9

Hackman E, 1983, Maternal birth weight and subsequent pregnancy outcome., JAMA, 250, 2016, 10.1001/jama.1983.03340150058027

Klebanoff MA, 1984, Low birth weight across generations., JAMA, 252, 2423, 10.1001/jama.1984.03350170025013

10.1016/S0022-3476(87)80089-6

10.1111/j.1471-0528.1985.tb03071.x

10.1016/0002-9378(79)90742-7

10.1056/NEJM199512283332606

10.1001/jama.283.12.1591

10.1016/S0002-9378(11)80001-3

10.1016/0002-9378(92)91628-N

10.1016/0002-9378(95)91360-2

10.1056/NEJM199512283332604

10.1056/NEJM199712253372607

10.1016/0002-9378(91)90506-M

10.1056/NEJM199512283332603

10.1136/bmj.318.7183.548

10.1056/NEJM200002243420802

10.1016/0002-9378(93)90497-7

10.1016/0002-9378(89)90373-6

Mazze RI, 1991, Appendectomy during pregnancy: a Swedish registry study of 778 cases., Obstetrics and Gynecology, 77, 835

Offenbacher S, 1996, Periodontal infection as a possible risk factor for preterm low birth weight., Journal of Periodontology, 67, 1103, 10.1902/jop.1996.67.10.1103

10.1159/000292614

10.1016/1043-4666(93)90027-3

Hillier SL, 1993, The relationship of amniotic fluid cytokines and preterm delivery, amniotic fluid infection, histologic chorioamnionitis, and chorioamnion infection., Obstetrics and Gynecology, 81, 941

10.1055/s-2007-994454

10.1530/eje.0.1300478

10.1016/S0002-9378(87)80061-3

10.1016/0090-6980(89)90028-2

10.1016/0002-9378(89)90172-5

10.1111/j.1600-0897.1992.tb00737.x

10.1016/0002-9378(92)91636-O

10.3109/14767059209161909

10.1016/0143-4004(91)90343-E

10.1172/JCI113901

10.1016/S0002-9378(11)91595-6

10.1016/0002-9378(91)90238-M

10.1016/0952-3278(88)90137-8

10.1016/S0952-3278(96)90015-0

10.1210/jc.74.4.884

10.1210/jc.75.4.1081

10.1016/0014-5793(89)80553-8

Ito A, 1991, Calmodulin differentially modulates the interleukin 1‐induced biosynthesis of tissue inhibitor of metalloproteinases and matrix metalloproteinases in human uterine cervical fibroblasts., Journal of Biological Chemistry, 266, 13598, 10.1016/S0021-9258(18)92741-9

10.1210/jc.82.1.188

10.1056/NEJM200005183422007

10.1016/0022-3999(83)90050-8

10.1093/oxfordjournals.epirev.a036128

10.1093/oxfordjournals.aje.a113068

10.1056/NEJM198709173171207

10.1056/NEJM198709173171209

10.1136/bmj.2.6187.411

10.1016/0022-3999(86)90028-0

10.1037/0278-6133.11.1.32

10.1016/S0002-9378(99)70267-X

10.1016/0002-9378(93)90499-9

10.1097/00003081-199712000-00008

10.1159/000127103

10.1038/328717a0

10.1016/0143-4004(88)90050-1

10.1210/jcem-68-4-825

10.1016/S0950-351X(89)80052-7

10.1016/0006-291X(89)92422-4

Jones CT, 1989, Production of corticotrophin releasing hormone by the sheep placenta in vivo., Journal of Developmental Physiology, 11, 97

10.1515/jpme.1996.24.3.243

10.1038/nm0595-460

10.1210/jcem-64-2-224

10.1210/jcem-64-5-1054

10.1038/nm0596-556

Tropper PJ, 1992, Corticotropin releasing hormone concentrations in umbilical cord blood of preterm fetuses., Journal of Developmental Physiology, 18, 81

10.1126/science.6267699

10.1097/00006842-199609000-00006

10.1159/000263348

10.1111/j.1749-6632.1991.tb37878.x

10.1677/joe.0.1250153

10.1055/s-0029-1211283

10.1095/biolreprod54.6.1279

10.1016/0090-6980(93)90114-M

10.1210/jcem-26-7-751

10.1210/en.132.6.2380

10.1210/en.138.3.1151

10.1139/y83-112

10.1677/joe.0.0970011

Klebanoff M., 1998, Conceptualizing categories of preterm birth., Prenatal and Neonatal Medicine, 3, 13

Williams MA, 1991, Adverse infant outcomes associated with first‐trimester vaginal bleeding., Obstetrics and Gynecology, 78, 14

10.1016/S0002-9378(11)90686-3

Ekwo EE, 1992, Unfavorable outcome in penultimate pregnancy and premature rupture of membranes in successive pregnancy., Obstetrics and Gynecology, 80, 166

10.1016/S0002-9378(96)70339-3

10.1056/NEJM200002103420602

10.1136/jmg.34.6.525

Motulsky AG., 1996, Nutritional ecogenetics: homocysteine‐related arteriosclerotic vascular disease, neural tube defects, and folic acid [editorial; comment], American Journal of Human Genetics, 58, 17

10.1038/ng0595-111

10.1161/01.CIR.93.1.7

10.1086/301825

10.1016/S0140-6736(95)90008-X

10.1056/NEJM199603213341203

Stampfer MJ, 1992, A prospective study of plasma homocysteine and risk of myocardial infarction in US physicians., JAMA, 268, 877, 10.1001/jama.1992.03490070059042

10.1001/jama.1995.03530130055028

10.1111/j.1365-2362.1992.tb01829.x

10.1056/NEJM199104253241701

10.1016/S0140-6736(95)90165-5

10.1016/S0029-7844(97)00223-8

10.1016/0002-9378(95)91324-6

10.1055/s-0038-1656110

10.1056/NEJM199201023260118

10.1016/0140-6736(92)90725-I

10.1016/0301-2115(96)02383-4

10.1093/ajcn/55.1.131

10.1056/NEJM197710132971501

10.1093/oxfordjournals.aje.a116250

10.1097/00001648-199605000-00006

10.1097/00043764-199508000-00008

10.5271/sjweh.2180

10.1093/oxfordjournals.aje.a115241

10.1016/0890-6238(94)90019-1

10.1016/S0022-3476(85)80238-9

10.1097/00043764-199508000-00004

Ng TP, 1992, Menstrual function in workers exposed to toluene., British Journal of Industrial Medicine, 49, 799

10.1002/ajim.4700270506

10.1097/00043764-199501000-00006

TimbrellJ.Principles of Biochemical Toxicology. 2nd edn. Washington DC: Taylor & Francis 1991.

10.1016/0014-5793(90)80721-T

Xu X, 1996, Cytochrome P450 CYP1A1 MspI polymorphism and lung cancer susceptibility., Cancer Epidemiology, Biomarkers and Prevention, 5, 687

10.1002/(sici)1097-0274(199802)33:2<157::aid-ajim7>3.3.co;2-v

10.1111/j.1349-7006.1992.tb01992.x

Nakachi K, 1991, Genetic susceptibility to squamous cell carcinoma of the lung in relation to cigarette smoking dose., Cancer Research, 51, 5177

10.1093/hmg/2.10.1753-a

10.1093/hmg/1.6.450

10.1172/JCI2629

10.1093/hmg/8.8.1443

10.1007/BF02281888

10.1111/j.1365-2125.1995.tb04471.x

10.5414/CPP38030

Harada S, 1993, New strategy for detection of ALDH2 mutant., Alcohol and Alcoholism Supplement, 1, 11

10.1093/carcin/20.6.991

Wiencke JK, 1995, Gene deletion of glutathione S‐transferase theta: correlation with induced genetic damage and potential role in endogenous mutagenesis., Cancer Epidemiology, Biomarkers and Prevention, 4, 253

10.1097/00008571-199412000-00009

10.1136/jmg.34.9.758

10.1093/hmg/3.3.421

Spielman RS, 1993, Transmission test for linkage disequilibrium: the insulin gene region and insulin‐dependent diabetes mellitus (IDDM)., American Journal of Human Genetics, 52, 506

10.1126/science.273.5281.1516

Allison DB., 1997, Transmission‐disequilibrium tests for quantitative traits, American Journal of Human Genetics, 60, 676

10.1073/pnas.95.19.11389

10.1073/pnas.95.4.1741

RothmanK&GreenlandS.Modern Epidemiology.2nd edn. Philadelphia PA: Lippincott–Raven 1998.

10.1002/gepi.1370170708

10.1093/oxfordjournals.aje.a117737

Aragaki CC, 1997, Hierarchical modeling of gene – environment interactions: estimating NAT2 genotype‐specific dietary effects on adenomatous polyps., Cancer Epidemiology, Biomarkers and Prevention, 6, 307

10.1093/aje/152.8.693

10.1002/(SICI)1097-0274(199909)36:3<379::AID-AJIM5>3.0.CO;2-8