Mitochondrial DNA variant A4917G, smoking and spontaneous preterm birth

Mitochondrion

Volumn 8, Issue 2, 2008, Pages 130-135

  Velez, Digna R ^a   Menon, Ramkumar ^b   Simhan, Hyagriv ^c   Fortunato, Stephen ^b,d   Canter, Jeffery A ^e   Williams, Scott M ^a  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b Perinatal Research Center   (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Complex disease; mtDNA variation; Oxidative stress; Preterm birth; Smoking

Indexed keywords

ADENINE; CYTOSINE; GUANINE; MITOCHONDRIAL DNA; THYMINE;

ADULT; ARTICLE; CAUCASIAN; CIGARETTE SMOKING; CONTROLLED STUDY; DNA DETERMINATION; DNA POLYMORPHISM; ENVIRONMENTAL FACTOR; FEMALE; GENE INTERACTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; GESTATIONAL AGE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; PREGNANT WOMAN; PREMATURITY; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR;

ADULT; DNA, MITOCHONDRIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MULTIVARIATE ANALYSIS; PENNSYLVANIA; POINT MUTATION; PREGNANCY; PREMATURE BIRTH; RETROSPECTIVE STUDIES; SMOKING; TENNESSEE;

EID: 40149090180     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2007.10.007     Document Type: Article

References (54)

1. Agarwal A., Gupta S., and Sikka S. The role of free radicals and antioxidants in reproduction. Curr. Opin. Obstet. Gynecol. 18 (2006) 325-332
2. Bouhours-Nouet N., May-Panloup P., Coutant R., de Casson F.B., Descamps P., Douay O., Reynier P., Ritz P., Malthiery Y., and Simard G. Maternal smoking is associated with mitochondrial DNA depletion and respiratory chain complex III deficiency in placenta. Am. J. Physiol. Endocrinol. Metab. 288 (2005) E171-E177
3. Dupont W.D., and Plummer Jr. W.D. Power and sample size calculations for studies involving linear regression. Control Clin. Trials 19 (1998) 589-601
4. Fainaru O., Almog B., Pinchuk I., Kupferminc M.J., Lichtenberg D., and Many A. Active labour is associated with increased oxidisibility of serum lipids ex vivo. BJOG. 109 (2002) 938-941
5. Fauser S., Luberichs J., Besch D., and Leo-Kottler B. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. Biochem. Biophys. Res. Commun. 295 (2002) 342-347
6. Giacchetti M., Monticelli A., De B.I., Pianese L., Turano M., Filla A., De M.G., and Cocozza S. Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype. J. Med. Genet. 41 (2004) 293-295
7. Goldenberg R.L., and Andrews W.W. Intrauterine infection and why preterm prevention programs have failed. Am. J. Public Health 86 (1996) 781-783
8. Goldenberg R.L., and Rouse D.J. Prevention of premature birth. N. Engl. J. Med. 339 (1998) 313-320
9. Granger J.P., Alexander B.T., Llinas M.T., Bennett W.A., and Khalil R.A. Pathophysiology of preeclampsia: linking placental ischemia/hypoxia with microvascular dysfunction. Microcirculation 9 (2002) 147-160
10. Hack M., Flannery D.J., Schluchter M., Cartar L., Borawski E., and Klein N. Outcomes in young adulthood for very-low-birth-weight infants. N. Engl. J. Med. 346 (2002) 149-157
11. Hofmann S., Bezold R., Jaksch M., Obermaier-Kusser B., Mertens S., Kaufhold P., Rabl W., Hecker W., and Gerbitz K.D. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 39 (1997) 8-18
12. Howell N., Kubacka I., Halvorson S., Howell B., McCullough D.A., and Mackey D. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 140 (1995) 285-302
13. Ivanova R., Lepage V., Charron D., and Schachter F. Mitochondrial genotype associated with French Caucasian centenarians. Gerontology 44 (1998) 349
14. Jacobson L.K., and Dutton G.N. Periventricular leukomalacia: an important cause of visual and ocular motility dysfunction in children. Surv. Ophthalmol. 45 (2000) 1-13
15. Jaffe R. First trimester utero-placental circulation: maternal-fetal interaction. J. Perinat. Med. 26 (1998) 168-174
16. Jaffe R., Jauniaux E., and Hustin J. Maternal circulation in the first-trimester human placenta - myth or reality?. Am. J. Obstet. Gynecol. 176 (1997) 695-705
17. Jauniaux E., Gulbis B., Acharya G., and Gerlo E. Fetal amino acid and enzyme levels with maternal smoking. Obstet Gynecol 93 (1999) 680-683
18. Jauniaux E., Watson A.L., Hempstock J., Bao Y.P., Skepper J.N., and Burton G.J. Onset of maternal arterial blood flow and placental oxidative stress. A possible factor in human early pregnancy failure. Am. J. Pathol. 157 (2000) 2111-2122
19. Kaijser M., Akre O., Cnattingius S., and Ekbom A. Preterm birth, low birth weight, and risk for esophageal adenocarcinoma. Gastroenterology 128 (2005) 607-609
20. Kirchner S.C., Hallagan S.E., Farin F.M., Dilley J., Costa-Mallen P., Smith-Weller T., Franklin G.M., Swanson P.D., and Checkoway H. Mitochondrial ND1 sequence analysis and association of the T4216C mutation with Parkinson's disease. Neurotoxicology 21 (2000) 441-445
21. Lawlor D.A., Davey S.G., Clark H., and Leon D.A. The associations of birthweight, gestational age and childhood BMI with type 2 diabetes: findings from the Aberdeen Children of the 1950s cohort. Diabetologia 49 (2006) 2614-2617
22. Levy R., Smith S.D., Chandler K., Sadovsky Y., and Nelson D.M. Apoptosis in human cultured trophoblasts is enhanced by hypoxia and diminished by epidermal growth factor. Am. J. Physiol. Cell. Physiol. 278 (2000) C982-C988
23. Lockwood C.J., and Kuczynski E. Risk stratification and pathological mechanisms in preterm delivery. Paediatr. Perinat. Epidemiol. 15 Suppl. 2 (2001) 78-89
24. Longini M., Perrone S., Vezzosi P., Marzocchi B., Kenanidis A., Centini G., Rosignoli L., and Buonocore G. Association between oxidative stress in pregnancy and preterm premature rupture of membranes. Clin. Biochem. 40 (2007) 793-797
25. Mancuso M., Conforti F.L., Rocchi A., Tessitore A., Muglia M., Tedeschi G., Panza D., Monsurro M., Sola P., Mandrioli J., Choub A., DelCorona A., Manca M.L., Mazzei R., Sprovieri T., Filosto M., Salviati A., Valentino P., Bono F., Caracciolo M., Simone I.L., La B.V., Majorana G., Siciliano G., Murri L., and Quattrone A. Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?. Neurosci. Lett. 371 (2004) 158-162
26. Martin J.A., Kochanek K.D., Strobino D.M., Guyer B., and MacDorman M.F. Annual summary of vital statistics - 2003. Pediatrics 115 (2005) 619-634
27. Meis P.J. 17 hydroxyprogesterone for the prevention of preterm delivery. Obstet. Gynecol. 105 (2005) 1128-1135
28. Menon R., Fortunato S.J., Thorsen P., and Williams S.M. Genetic associations in preterm birth: A primer of marker selectrion, study design and data analysis. J. Soc. Gynecol. Invest. 13 (2006) 531-541
29. Mohorovic L. First two months of pregnancy-critical time for preterm delivery and low birthweight caused by adverse effects of coal combustion toxics. Early Hum. Dev. 80 (2004) 115-123
30. Myatt L., and Cui X. Oxidative stress in the placenta. Histochem. Cell Biol. 122 (2004) 369-382
31. Pennell C.E., Jacobsson B., Williams S.M., Buus R.M., Muglia L.J., Dolan S.M., Morken N.H., Ozcelik H., Lye S.J., Prebic Genetics Working Group, and Relton C. Genetic epidemiological studies of preterm birth: Guidelines for research. Am. J. Obstet. Gynecol. 7 (2006) 6-7
32. Penta J.S., Johnson F.M., Wachsman J.T., and Copeland W.C. Mitochondrial DNA in human malignancy. Mutat. Res. 488 (2001) 119-133
33. Roberts J.M. Endothelial dysfunction in preeclampsia. Semin. Reprod. Endocrinol. 16 (1998) 5-15
34. Roberts J.M. Preeclampsia: what we know and what we do not know. Semin. Perinatol. 24 (2000) 24-28
35. Robinson B.H. Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim. Biophys. Acta 1364 (1998) 271-286
36. Romero R., Espinoza J., Goncalves L.F., Kusanovic J.P., Friel L., and Hassan S. The role of inflammation and infection in preterm birth. Semin. Reprod. Med. 25 (2007) 21-39
37. Romero R., Espinoza J., Kusanovic J.P., Gotsch F., Hassan S., Erez O., Chaiworapongsa T., and Mazor M. The preterm parturition syndrome. BJOG. 113 Suppl. 3 (2006) 17-42
38. Ross O.A., McCormack R., Curran M.D., Duguid R.A., Barnett Y.A., Rea I.M., and Middleton D. Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp. Gerontol. 36 (2001) 1161-1178
39. Ross O.A., McCormack R., Maxwell L.D., Duguid R.A., Quinn D.J., Barnett Y.A., Rea I.M., El-Agnaf O.M., Gibson J.M., Wallace A., Middleton D., and Curran M.D. mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp. Gerontol. 38 (2003) 397-405
40. Ruiz-Pesini E., Lapena A.C., ez-Sanchez C., Perez-Martos A., Montoya J., Alvarez E., Diaz M., Urries A., Montoro L., Lopez-Perez M.J., and Enriquez J.A. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am. J. Hum. Genet. 67 (2000) 682-696
41. Ruiz-Pesini E., Mishmar D., Brandon M., Procaccio V., and Wallace D.C. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303 (2004) 223-226
42. Rush R.W., Keirse M.J., Howat P., Baum J.D., Anderson A.B., and Turnbull A.C. Contribution of preterm delivery to perinatal mortality. Br. Med. J. 2 (1976) 965-968
43. Sastry B.V. Placental toxicology: tobacco smoke, abused drugs, multiple chemical interactions, and placental function. Reprod. Fertil. Dev. 3 (1991) 355-372
44. Shoffner J.M., Brown M.D., Torroni A., Lott M.T., Cabell M.F., Mirra S.S., Beal M.F., Yang C.C., Gearing M., and Salvo R. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17 (1993) 171-184
45. Smeitink J., and van den H.L. Human mitochondrial complex I in health and disease. Am. J. Hum. Genet. 64 (1999) 1505-1510
46. StataCorp, 2007. Stata Longitudinal/Panel Data Reference Manual, Release 9. College Station, TX: StataCorp LP.
47. Tabacova S., Baird D.D., and Balabaeva L. Exposure to oxidized nitrogen: lipid peroxidation and neonatal health risk. Arch. Environ. Health 53 (1998) 214-221
48. Tabacova S., Balabaeva L., and Little R.E. Maternal exposure to exogenous nitrogen compounds and complications of pregnancy. Arch. Environ. Health 52 (1997) 341-347
49. Tanaka M., Gong J.S., Zhang J., Yoneda M., and Yagi K. Mitochondrial genotype associated with longevity. Lancet 351 (1998) 185-186
50. Torroni A., Petrozzi M., D'Urbano L., Sellitto D., Zeviani M., Carrara F., Carducci C., Leuzzi V., Carelli V., Barboni P., De N.A., and Scozzari R. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60 (1997) 1107-1121
51. van der Walt J.M., Dementieva Y.A., Martin E.R., Scott W.K., Nicodemus K.K., Kroner C.C., Welsh-Bohmer K.A., Saunders A.M., Roses A.D., Small G.W., Schmechel D.E., Murali D.P., Gilbert J.R., Haines J.L., Vance J.M., and Pericak-Vance M.A. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci. Lett. 365 (2004) 28-32
52. van der Walt J.M., Nicodemus K.K., Martin E.R., Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Haines J.L., Koller W.C., Lyons K., Pahwa R., Stern M.B., Colcher A., Hiner B.C., Jankovic J., Ondo W.G., Allen Jr. F.H., Goetz C.G., Small G.W., Mastaglia F., Stajich J.M., McLaurin A.C., Middleton L.T., Scott B.L., Schmechel D.E., Pericak-Vance M.A., and Vance J.M. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am. J. Hum. Genet. 72 (2003) 804-811
53. Varner M.W., and Esplin M.S. Current understanding of genetic factors in preterm birth. BJOG. 112 Suppl. 1 (2005) 28-31
54. Wiktor H., Kankofer M., Schmerold I., Dadak A., Lopucki M., and Niedermuller H. Oxidative DNA damage in placentas from normal and pre-eclamptic pregnancies. Virchows Arch 445 (2004) 74-78