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Erschienen in: Current Cardiovascular Risk Reports 11/2023

28.09.2023

Genetic Contributions to Risk of Adverse Pregnancy Outcomes

verfasst von: Zachary H. Hughes, Lydia M. Hughes, Sadiya S. Khan

Erschienen in: Current Cardiovascular Risk Reports | Ausgabe 11/2023

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Abstract

Purpose of Review

Adverse pregnancy outcomes (APOs), including hypertensive disorders of pregnancy (HDP), low birthweight (LBW), and preterm birth (PTB), along with peripartum cardiomyopathy (PPCM) are associated with short- and long-term maternal and fetal cardiovascular risks. This review focuses on the genetic contributions to the risk of APOs and PPCM.

Recent Findings

The expansion of genome-wide association studies (GWAS) has led to a better understanding of the biological mechanisms underpinning APO, PPCM, and the predisposition to cardiovascular disease across the life course. Genetic loci known to be involved with the risk of hypertension (FTO, ZNF831) have been associated with the development of overall HDP and preeclampsia. Additionally, four loci significantly associated with type 2 diabetes have been associated with GDM (CDKAL1, MTNR1B, TCF7L2, CDKN2A-CDKN2B). Variants in loci known to affect gene coding for proteins involved in immune cell function and placental health (EBF1, EEFSEC, AGTR2, 2q13) have been implicated in the development of PTB and future cardiovascular risks for both the mother and the offspring. Genetic similarities in rare variants between PPCM and dilated cardiomyopathy have been described suggesting shared pathophysiologic origins as well as predisposition for future risk of heart failure, highlighting the need for the development of PPCM genetic counseling guidelines.

Summary

Genetics may inform mechanisms, risks, and counseling for individuals after an APO or PPCM. Through recent advances in genetic techniques and analytic approaches, new insights into the underlying biological mechanisms and genetic variants leading to these risks have been discovered.
Literatur
1.
Zurück zum Zitat Embleton ND, Wood C. Metabolic outcomes in very low birthweight and preterm infants in later life. J Pediatr (Rio J). 2019;95(3):260–3.PubMedCrossRef Embleton ND, Wood C. Metabolic outcomes in very low birthweight and preterm infants in later life. J Pediatr (Rio J). 2019;95(3):260–3.PubMedCrossRef
2.
Zurück zum Zitat von Dadelszen P, Magee LA. Preventing deaths due to the hypertensive disorders of pregnancy. Best Pract Res Clin Obstet Gynaecol. 2016;36:83–102.CrossRef von Dadelszen P, Magee LA. Preventing deaths due to the hypertensive disorders of pregnancy. Best Pract Res Clin Obstet Gynaecol. 2016;36:83–102.CrossRef
3.
Zurück zum Zitat Freaney PM, Harrington K, Molsberry R, et al. Temporal trends in adverse pregnancy outcomes in birthing individuals aged 15 to 44  years in the United States, 2007 to 2019. J Am Heart Assoc.0(0):e025050. Freaney PM, Harrington K, Molsberry R, et al. Temporal trends in adverse pregnancy outcomes in birthing individuals aged 15 to 44  years in the United States, 2007 to 2019. J Am Heart Assoc.0(0):e025050.
4.
Zurück zum Zitat Hutcheon JA, Lisonkova S, Joseph KS. Epidemiology of pre-eclampsia and the other hypertensive disorders of pregnancy. Best Pract Res Clin Obstet Gynaecol. 2011;25(4):391–403.PubMedCrossRef Hutcheon JA, Lisonkova S, Joseph KS. Epidemiology of pre-eclampsia and the other hypertensive disorders of pregnancy. Best Pract Res Clin Obstet Gynaecol. 2011;25(4):391–403.PubMedCrossRef
5.
Zurück zum Zitat Say L, Chou D, Gemmill A, et al. Global causes of maternal death: a WHO systematic analysis. Lancet Glob Health. 2014;2(6):e323–33.PubMedCrossRef Say L, Chou D, Gemmill A, et al. Global causes of maternal death: a WHO systematic analysis. Lancet Glob Health. 2014;2(6):e323–33.PubMedCrossRef
6.
Zurück zum Zitat Chesley LC, Cooper DW. Genetics of hypertension in pregnancy: possible single gene control of pre-eclampsia and eclampsia in the descendants of eclamptic women. BJOG: Int J Obstet Gynaecol. 1986;93(9):898–908.CrossRef Chesley LC, Cooper DW. Genetics of hypertension in pregnancy: possible single gene control of pre-eclampsia and eclampsia in the descendants of eclamptic women. BJOG: Int J Obstet Gynaecol. 1986;93(9):898–908.CrossRef
7.
Zurück zum Zitat Sutherland A, Cooper DW, Howie PW, et al. The incidence of severe pre-eclampsia amongst mothers and mothers-in-law of pre-eclamptics and controls. BJOG: Int J Obstet Gynaecol. 1981;88(8):785–91.CrossRef Sutherland A, Cooper DW, Howie PW, et al. The incidence of severe pre-eclampsia amongst mothers and mothers-in-law of pre-eclamptics and controls. BJOG: Int J Obstet Gynaecol. 1981;88(8):785–91.CrossRef
8.
Zurück zum Zitat Ayorinde AA, Bhattacharya S. Inherited predisposition to preeclampsia: analysis of the Aberdeen intergenerational cohort. Pregnancy Hypertens: Int J Women's CVD Health. 2017;8:37–41.CrossRef Ayorinde AA, Bhattacharya S. Inherited predisposition to preeclampsia: analysis of the Aberdeen intergenerational cohort. Pregnancy Hypertens: Int J Women's CVD Health. 2017;8:37–41.CrossRef
9.
Zurück zum Zitat Skjaerven R, Vatten LJ, Wilcox AJ, et al. Recurrence of pre-eclampsia across generations: exploring fetal and maternal genetic components in a population based cohort. Bmj. 2005;331(7521):877.PubMedPubMedCentralCrossRef Skjaerven R, Vatten LJ, Wilcox AJ, et al. Recurrence of pre-eclampsia across generations: exploring fetal and maternal genetic components in a population based cohort. Bmj. 2005;331(7521):877.PubMedPubMedCentralCrossRef
10.
Zurück zum Zitat Johnson MP, Fitzpatrick E, Dyer TD, et al. Identification of two novel quantitative trait loci for pre-eclampsia susceptibility on chromosomes 5q and 13q using a variance components-based linkage approach. Mol Hum Reprod. 2007;13(1):61–7.PubMedCrossRef Johnson MP, Fitzpatrick E, Dyer TD, et al. Identification of two novel quantitative trait loci for pre-eclampsia susceptibility on chromosomes 5q and 13q using a variance components-based linkage approach. Mol Hum Reprod. 2007;13(1):61–7.PubMedCrossRef
11.
Zurück zum Zitat Salonen Ros H, Lichtenstein P, Lipworth L, et al. Genetic effects on the liability of developing pre-eclampsia and gestational hypertension. Am J Med Genet. 2000;91(4):256–60.PubMedCrossRef Salonen Ros H, Lichtenstein P, Lipworth L, et al. Genetic effects on the liability of developing pre-eclampsia and gestational hypertension. Am J Med Genet. 2000;91(4):256–60.PubMedCrossRef
12.
Zurück zum Zitat Force UPST. Aspirin use to prevent preeclampsia and related morbidity and mortality: US Preventive Services Task Force recommendation statement. JAMA. 2021;326(12):1186–91.CrossRef Force UPST. Aspirin use to prevent preeclampsia and related morbidity and mortality: US Preventive Services Task Force recommendation statement. JAMA. 2021;326(12):1186–91.CrossRef
13.
Zurück zum Zitat Treloar SA, Cooper DW, Brennecke SP, et al. An Australian twin study of the genetic basis of preeclampsia and eclampsia. Am J Obstet Gynecol. 2001;184(3):374–81.PubMedCrossRef Treloar SA, Cooper DW, Brennecke SP, et al. An Australian twin study of the genetic basis of preeclampsia and eclampsia. Am J Obstet Gynecol. 2001;184(3):374–81.PubMedCrossRef
14.
Zurück zum Zitat Cnattingius S, Reilly M, Pawitan Y, et al. Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: a population-based Swedish cohort study. Am J Med Genet A. 2004;130a(4):365–71.PubMedCrossRef Cnattingius S, Reilly M, Pawitan Y, et al. Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: a population-based Swedish cohort study. Am J Med Genet A. 2004;130a(4):365–71.PubMedCrossRef
15.
Zurück zum Zitat Honigberg MC, Chaffin M, Aragam K, et al. Genetic variation in cardiometabolic traits and medication targets and the risk of hypertensive disorders of pregnancy. Circulation. 2020;142(7):711–3.PubMedPubMedCentralCrossRef Honigberg MC, Chaffin M, Aragam K, et al. Genetic variation in cardiometabolic traits and medication targets and the risk of hypertensive disorders of pregnancy. Circulation. 2020;142(7):711–3.PubMedPubMedCentralCrossRef
16.
Zurück zum Zitat Roberts JM, Taylor RN, Musci TJ, et al. Preeclampsia: an endothelial cell disorder. Am J Obstet Gynecol. 1989;161(5):1200–4.PubMedCrossRef Roberts JM, Taylor RN, Musci TJ, et al. Preeclampsia: an endothelial cell disorder. Am J Obstet Gynecol. 1989;161(5):1200–4.PubMedCrossRef
17.
Zurück zum Zitat Gray KJ, Kovacheva VP, Mirzakhani H, et al. Risk of pre-eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case-control study. Bjog. 2021;128(1):55–65.PubMedCrossRef Gray KJ, Kovacheva VP, Mirzakhani H, et al. Risk of pre-eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case-control study. Bjog. 2021;128(1):55–65.PubMedCrossRef
18.•
Zurück zum Zitat Steinthorsdottir V, McGinnis R, Williams NO, et al. Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women. Nat Commun. 2020;11(1):5976. Steinthorsdottir et al. describe two new loci, FTO and ZNF831, that have genome-wide significance with preeclampsia. These two loci have been previously associated with the development of hypertension and strengthen the relationship between hypertensive disorders or pregnancy and increased cardiovascular risk in adulthood.PubMedPubMedCentralCrossRef Steinthorsdottir V, McGinnis R, Williams NO, et al. Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women. Nat Commun. 2020;11(1):5976. Steinthorsdottir et al. describe two new loci, FTO and ZNF831, that have genome-wide significance with preeclampsia. These two loci have been previously associated with the development of hypertension and strengthen the relationship between hypertensive disorders or pregnancy and increased cardiovascular risk in adulthood.PubMedPubMedCentralCrossRef
19.
Zurück zum Zitat Sung YJ, Winkler TW, de Las FL, et al. A large-scale multi-ancestry genome-wide study accounting for smoking behavior identifies multiple significant loci for blood pressure. Am J Hum Genet. 2018;102(3):375–400.PubMedPubMedCentralCrossRef Sung YJ, Winkler TW, de Las FL, et al. A large-scale multi-ancestry genome-wide study accounting for smoking behavior identifies multiple significant loci for blood pressure. Am J Hum Genet. 2018;102(3):375–400.PubMedPubMedCentralCrossRef
20.
Zurück zum Zitat Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007;316(5826):889–94.PubMedPubMedCentralCrossRef Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007;316(5826):889–94.PubMedPubMedCentralCrossRef
21.
Zurück zum Zitat Gray KJ, Saxena R, Karumanchi SA. Genetic predisposition to preeclampsia is conferred by fetal DNA variants near FLT1, a gene involved in the regulation of angiogenesis. Am J Obstet Gynecol. 2018;218(2):211–8.PubMedCrossRef Gray KJ, Saxena R, Karumanchi SA. Genetic predisposition to preeclampsia is conferred by fetal DNA variants near FLT1, a gene involved in the regulation of angiogenesis. Am J Obstet Gynecol. 2018;218(2):211–8.PubMedCrossRef
22.
Zurück zum Zitat McGinnis R, Steinthorsdottir V, Williams NO, et al. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia. Nat Genet. 2017;49(8):1255–60.PubMedCrossRef McGinnis R, Steinthorsdottir V, Williams NO, et al. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia. Nat Genet. 2017;49(8):1255–60.PubMedCrossRef
23.
Zurück zum Zitat Maynard SE, Min J-Y, Merchan J, et al. Excess placental soluble fms-like tyrosine kinase 1 (sFlt1) may contribute to endothelial dysfunction, hypertension, and proteinuria in preeclampsia. J Clin Investig. 2003;111(5):649–58.PubMedPubMedCentralCrossRef Maynard SE, Min J-Y, Merchan J, et al. Excess placental soluble fms-like tyrosine kinase 1 (sFlt1) may contribute to endothelial dysfunction, hypertension, and proteinuria in preeclampsia. J Clin Investig. 2003;111(5):649–58.PubMedPubMedCentralCrossRef
24.
Zurück zum Zitat Chaiworapongsa T, Romero R, Espinoza J, et al. Evidence supporting a role for blockade of the vascular endothelial growth factor system in the pathophysiology of preeclampsia: Young Investigator Award. Am J Obstet Gynecol. 2004;190(6):1541–7.PubMedCrossRef Chaiworapongsa T, Romero R, Espinoza J, et al. Evidence supporting a role for blockade of the vascular endothelial growth factor system in the pathophysiology of preeclampsia: Young Investigator Award. Am J Obstet Gynecol. 2004;190(6):1541–7.PubMedCrossRef
25.
Zurück zum Zitat Deputy NP, Kim SY, Conrey EJ, et al. Prevalence and changes in preexisting diabetes and gestational diabetes among women who had a live birth - United States, 2012-2016. MMWR Morb Mortal Wkly Rep. 2018;67(43):1201–7.PubMedPubMedCentralCrossRef Deputy NP, Kim SY, Conrey EJ, et al. Prevalence and changes in preexisting diabetes and gestational diabetes among women who had a live birth - United States, 2012-2016. MMWR Morb Mortal Wkly Rep. 2018;67(43):1201–7.PubMedPubMedCentralCrossRef
26.
Zurück zum Zitat Appiah D, Schreiner PJ, Gunderson EP, et al. Association of gestational diabetes mellitus with left ventricular structure and function: the CARDIA study. Diabetes Care. 2016;39(3):400–7.PubMedPubMedCentralCrossRef Appiah D, Schreiner PJ, Gunderson EP, et al. Association of gestational diabetes mellitus with left ventricular structure and function: the CARDIA study. Diabetes Care. 2016;39(3):400–7.PubMedPubMedCentralCrossRef
27.
Zurück zum Zitat Jang HC, Min HK, Lee HK, et al. Short stature in Korean women: a contribution to the multifactorial predisposition to gestational diabetes mellitus. Diabetologia. 1998;41(7):778–83.PubMedCrossRef Jang HC, Min HK, Lee HK, et al. Short stature in Korean women: a contribution to the multifactorial predisposition to gestational diabetes mellitus. Diabetologia. 1998;41(7):778–83.PubMedCrossRef
28.
Zurück zum Zitat Kim C, Newton KM, Knopp RH. Gestational diabetes and the incidence of type 2 diabetes: a systematic review. Diabetes Care. 2002;25(10):1862–8.PubMedCrossRef Kim C, Newton KM, Knopp RH. Gestational diabetes and the incidence of type 2 diabetes: a systematic review. Diabetes Care. 2002;25(10):1862–8.PubMedCrossRef
29.
Zurück zum Zitat Grant SF, Thorleifsson G, Reynisdottir I, et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet. 2006;38(3):320–3.PubMedCrossRef Grant SF, Thorleifsson G, Reynisdottir I, et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet. 2006;38(3):320–3.PubMedCrossRef
30.
Zurück zum Zitat Shaat N, Lernmark A, Karlsson E, et al. A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus. Diabetologia. 2007;50(5):972–9.PubMedCrossRef Shaat N, Lernmark A, Karlsson E, et al. A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus. Diabetologia. 2007;50(5):972–9.PubMedCrossRef
31.
Zurück zum Zitat Lauenborg J, Grarup N, Damm P, et al. Common type 2 diabetes risk gene variants associate with gestational diabetes. J Clin Endocrinol Metab. 2009;94(1):145–50.PubMedCrossRef Lauenborg J, Grarup N, Damm P, et al. Common type 2 diabetes risk gene variants associate with gestational diabetes. J Clin Endocrinol Metab. 2009;94(1):145–50.PubMedCrossRef
32.
Zurück zum Zitat Wu N-N, Zhao D, Ma W, et al. A genome-wide association study of gestational diabetes mellitus in Chinese women. J Matern-Fetal Neonatal Med. 2021;34(10):1557–64.PubMedCrossRef Wu N-N, Zhao D, Ma W, et al. A genome-wide association study of gestational diabetes mellitus in Chinese women. J Matern-Fetal Neonatal Med. 2021;34(10):1557–64.PubMedCrossRef
33.
35.••
Zurück zum Zitat Pervjakova N, Moen GH, Borges MC, et al. Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Hum Mol Genet. 2022;31(19):3377–91. Pervjakova et al. not only confirmed the genome-wide significance of the two previously described loci for gestational diabetes but also identified three new loci. All loci, excluding HKDC1, have been associated with type 2 diabetes. This shows that these two diseases likely exist genetically on the same spectrum.PubMedPubMedCentralCrossRef Pervjakova N, Moen GH, Borges MC, et al. Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Hum Mol Genet. 2022;31(19):3377–91. Pervjakova et al. not only confirmed the genome-wide significance of the two previously described loci for gestational diabetes but also identified three new loci. All loci, excluding HKDC1, have been associated with type 2 diabetes. This shows that these two diseases likely exist genetically on the same spectrum.PubMedPubMedCentralCrossRef
36.
Zurück zum Zitat Martin JA, Hamilton BE, Osterman MJK. Births in the United States, 2019. NCHS Data Brief. 2020;387:1–8. Martin JA, Hamilton BE, Osterman MJK. Births in the United States, 2019. NCHS Data Brief. 2020;387:1–8.
37.
Zurück zum Zitat Martin JA, Osterman MJK. Describing the increase in preterm births in the United States, 2014-2016. NCHS Data Brief. 2018;312:1–8. Martin JA, Osterman MJK. Describing the increase in preterm births in the United States, 2014-2016. NCHS Data Brief. 2018;312:1–8.
38.
Zurück zum Zitat Tanz LJ, Stuart JJ, Williams PL, et al. Preterm delivery and maternal cardiovascular disease risk factors: the Nurses' Health Study II. J Womens Health (Larchmt). 2019;28(5):677–85.PubMedPubMedCentralCrossRef Tanz LJ, Stuart JJ, Williams PL, et al. Preterm delivery and maternal cardiovascular disease risk factors: the Nurses' Health Study II. J Womens Health (Larchmt). 2019;28(5):677–85.PubMedPubMedCentralCrossRef
39.
Zurück zum Zitat Winkvist A, Mogren I, Högberg U. Familial patterns in birth characteristics: impact on individual and population risks. Int J Epidemiol. 1998;27(2):248–54.PubMedCrossRef Winkvist A, Mogren I, Högberg U. Familial patterns in birth characteristics: impact on individual and population risks. Int J Epidemiol. 1998;27(2):248–54.PubMedCrossRef
40.
Zurück zum Zitat Porter TF, Fraser AM, Hunter CY, et al. The risk of preterm birth across generations. Obstet Gynecol. 1997;90(1):63–7.PubMedCrossRef Porter TF, Fraser AM, Hunter CY, et al. The risk of preterm birth across generations. Obstet Gynecol. 1997;90(1):63–7.PubMedCrossRef
41.
Zurück zum Zitat Wilcox AJ, Skjaerven R, Lie RT. Familial patterns of preterm delivery: maternal and fetal contributions. Am J Epidemiol. 2008;167(4):474–9.PubMedCrossRef Wilcox AJ, Skjaerven R, Lie RT. Familial patterns of preterm delivery: maternal and fetal contributions. Am J Epidemiol. 2008;167(4):474–9.PubMedCrossRef
42.
Zurück zum Zitat York TP, Eaves LJ, Lichtenstein P, et al. Fetal and maternal genes' influence on gestational age in a quantitative genetic analysis of 244,000 Swedish births. Am J Epidemiol. 2013;178(4):543–50.PubMedPubMedCentralCrossRef York TP, Eaves LJ, Lichtenstein P, et al. Fetal and maternal genes' influence on gestational age in a quantitative genetic analysis of 244,000 Swedish births. Am J Epidemiol. 2013;178(4):543–50.PubMedPubMedCentralCrossRef
43.
Zurück zum Zitat Genç MR, Gerber S, Nesin M, et al. Polymorphism in the interleukin-1 gene complex and spontaneous preterm delivery. American J Obstet Gynecol. 2002;187(1):157–63.CrossRef Genç MR, Gerber S, Nesin M, et al. Polymorphism in the interleukin-1 gene complex and spontaneous preterm delivery. American J Obstet Gynecol. 2002;187(1):157–63.CrossRef
44.
Zurück zum Zitat Simhan HN, Krohn MA, Roberts JM, et al. Interleukin-6 promoter− 174 polymorphism and spontaneous preterm birth. Am J Obstet Gynecol. 2003;189(4):915–8.PubMedCrossRef Simhan HN, Krohn MA, Roberts JM, et al. Interleukin-6 promoter− 174 polymorphism and spontaneous preterm birth. Am J Obstet Gynecol. 2003;189(4):915–8.PubMedCrossRef
45.
Zurück zum Zitat Barton PT, Gerber S, Skupski DW, et al. Interleukin-1 receptor antagonist gene polymorphism, vaginal interleukin-1 receptor antagonist concentrations, and vaginal ureaplasma urealyticum colonization in pregnant women. Infect Immun. 2003;71(1):271–4.PubMedPubMedCentralCrossRef Barton PT, Gerber S, Skupski DW, et al. Interleukin-1 receptor antagonist gene polymorphism, vaginal interleukin-1 receptor antagonist concentrations, and vaginal ureaplasma urealyticum colonization in pregnant women. Infect Immun. 2003;71(1):271–4.PubMedPubMedCentralCrossRef
46.
Zurück zum Zitat Menon R, Velez DR, Simhan H, et al. Multilocus interactions at maternal tumor necrosis factor-α, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women. Am J Obstet Gynecol. 2006;194(6):1616–24.PubMedCrossRef Menon R, Velez DR, Simhan H, et al. Multilocus interactions at maternal tumor necrosis factor-α, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women. Am J Obstet Gynecol. 2006;194(6):1616–24.PubMedCrossRef
47.
Zurück zum Zitat Romero R, Edwards DRV, Kusanovic JP, et al. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. Am J Obstet Gynecol. 2010;202(5):431. e1–e34.PubMedCrossRef Romero R, Edwards DRV, Kusanovic JP, et al. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. Am J Obstet Gynecol. 2010;202(5):431. e1–e34.PubMedCrossRef
48.
Zurück zum Zitat Frey HA, Stout MJ, Pearson LN, et al. Genetic variation associated with preterm birth in African-American women. Am J Obstet Gynecol. 2016;215(2):235. e1–8.PubMedCrossRef Frey HA, Stout MJ, Pearson LN, et al. Genetic variation associated with preterm birth in African-American women. Am J Obstet Gynecol. 2016;215(2):235. e1–8.PubMedCrossRef
49.
Zurück zum Zitat Parets SE, Knight AK, Smith AK. Insights into genetic susceptibility in the etiology of spontaneous preterm birth. Appl Clin Genet. 2015;8:283.PubMedPubMedCentral Parets SE, Knight AK, Smith AK. Insights into genetic susceptibility in the etiology of spontaneous preterm birth. Appl Clin Genet. 2015;8:283.PubMedPubMedCentral
50.
Zurück zum Zitat Monangi NK, Brockway HM, M H, et al. The genetics of preterm birth: progress and promise. In: Seminars in perinatology. Elsevier; 2015. Monangi NK, Brockway HM, M H, et al. The genetics of preterm birth: progress and promise. In: Seminars in perinatology. Elsevier; 2015.
51.
Zurück zum Zitat Sheikh IA, Ahmad E, Jamal MS, et al. Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update. BMC Genom. 2016;17(9):39–50. Sheikh IA, Ahmad E, Jamal MS, et al. Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update. BMC Genom. 2016;17(9):39–50.
52.
Zurück zum Zitat Zhang G, Feenstra B, Bacelis J, et al. Genetic associations with gestational duration and spontaneous preterm birth. N Engl J Med. 2017;377(12):1156–67.PubMedPubMedCentralCrossRef Zhang G, Feenstra B, Bacelis J, et al. Genetic associations with gestational duration and spontaneous preterm birth. N Engl J Med. 2017;377(12):1156–67.PubMedPubMedCentralCrossRef
53.
Zurück zum Zitat Györy I, Boller S, Nechanitzky R, et al. Transcription factor Ebf1 regulates differentiation stage-specific signaling, proliferation, and survival of B cells. Genes Dev. 2012;26(7):668–82.PubMedPubMedCentralCrossRef Györy I, Boller S, Nechanitzky R, et al. Transcription factor Ebf1 regulates differentiation stage-specific signaling, proliferation, and survival of B cells. Genes Dev. 2012;26(7):668–82.PubMedPubMedCentralCrossRef
54.
Zurück zum Zitat Consortium C, Consortium K, Consortium E, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011;478(7367):103–9.CrossRef Consortium C, Consortium K, Consortium E, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011;478(7367):103–9.CrossRef
55.
Zurück zum Zitat Singh A, Babyak MA, Nolan DK, et al. Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene. Eur J Human Genet. 2015;23(6):854–62.CrossRef Singh A, Babyak MA, Nolan DK, et al. Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene. Eur J Human Genet. 2015;23(6):854–62.CrossRef
56.
Zurück zum Zitat Xie G, Myint PK, Voora D, et al. Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. Atherosclerosis. 2015;243(1):30–7.PubMedCrossRef Xie G, Myint PK, Voora D, et al. Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. Atherosclerosis. 2015;243(1):30–7.PubMedCrossRef
57.
58.
Zurück zum Zitat Zhou A, Dekker GA, Lumbers ER, et al. The association of AGTR2 polymorphisms with preeclampsia and uterine artery bilateral notching is modulated by maternal BMI. Placenta. 2013;34(1):75–81.PubMedCrossRef Zhou A, Dekker GA, Lumbers ER, et al. The association of AGTR2 polymorphisms with preeclampsia and uterine artery bilateral notching is modulated by maternal BMI. Placenta. 2013;34(1):75–81.PubMedCrossRef
59.•
Zurück zum Zitat Liu X, Helenius D, Skotte L, et al. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature Communications. 2019;10(1):3927. Liu et al. help support the theory that the innate immune system is vital in terms of placental health. This study found a genome-wide significant variant in 2q13 which encodes for proteins in interleukin 1 which is vital to full-term delivery.PubMedPubMedCentralCrossRef Liu X, Helenius D, Skotte L, et al. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature Communications. 2019;10(1):3927. Liu et al. help support the theory that the innate immune system is vital in terms of placental health. This study found a genome-wide significant variant in 2q13 which encodes for proteins in interleukin 1 which is vital to full-term delivery.PubMedPubMedCentralCrossRef
60.
Zurück zum Zitat Nadeau-Vallée M, Obari D, Quiniou C, et al. A critical role of interleukin-1 in preterm labor. Cytokine Growth Factor Rev. 2016;28:37–51.PubMedCrossRef Nadeau-Vallée M, Obari D, Quiniou C, et al. A critical role of interleukin-1 in preterm labor. Cytokine Growth Factor Rev. 2016;28:37–51.PubMedCrossRef
61.
Zurück zum Zitat Martin JA, Hamilton BE, Osterman MJK, et al. Births: final data for 2019. Natl Vital Stat Rep. 2021;70(2):1–51.PubMed Martin JA, Hamilton BE, Osterman MJK, et al. Births: final data for 2019. Natl Vital Stat Rep. 2021;70(2):1–51.PubMed
62.
Zurück zum Zitat Knop MR, Geng TT, Gorny AW, et al. Birth weight and risk of type 2 diabetes mellitus, cardiovascular disease, and hypertension in adults: a meta-analysis of 7 646 267 participants from 135 studies. J Am Heart Assoc. 2018;7(23):e008870.PubMedPubMedCentralCrossRef Knop MR, Geng TT, Gorny AW, et al. Birth weight and risk of type 2 diabetes mellitus, cardiovascular disease, and hypertension in adults: a meta-analysis of 7 646 267 participants from 135 studies. J Am Heart Assoc. 2018;7(23):e008870.PubMedPubMedCentralCrossRef
63.
Zurück zum Zitat Poulsen P, Vaag AA, Kyvik KO, et al. Low birth weight is associated with NIDDM in discordant monozygotic and dizygotic twin pairs. Diabetologia. 1997;40(4):439–46.PubMedCrossRef Poulsen P, Vaag AA, Kyvik KO, et al. Low birth weight is associated with NIDDM in discordant monozygotic and dizygotic twin pairs. Diabetologia. 1997;40(4):439–46.PubMedCrossRef
64.
Zurück zum Zitat Shields BM, Freathy RM, Hattersley AT. Genetic influences on the association between fetal growth and susceptibility to type 2 diabetes. J Dev Orig Health Dis. 2010;1(2):96–105.PubMedCrossRef Shields BM, Freathy RM, Hattersley AT. Genetic influences on the association between fetal growth and susceptibility to type 2 diabetes. J Dev Orig Health Dis. 2010;1(2):96–105.PubMedCrossRef
65.
Zurück zum Zitat Lunde A, Melve KK, Gjessing HK, et al. Genetic and environmental influences on birth weight, birth length, head circumference, and gestational age by use of population-based parent-offspring data. Am J Epidemiol. 2007;165(7):734–41.PubMedCrossRef Lunde A, Melve KK, Gjessing HK, et al. Genetic and environmental influences on birth weight, birth length, head circumference, and gestational age by use of population-based parent-offspring data. Am J Epidemiol. 2007;165(7):734–41.PubMedCrossRef
66.
Zurück zum Zitat Vaessen N, Heutink P, Janssen JA, et al. A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. Diabetes. 2001;50(3):637–42.PubMedCrossRef Vaessen N, Heutink P, Janssen JA, et al. A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. Diabetes. 2001;50(3):637–42.PubMedCrossRef
67.
Zurück zum Zitat Vaessen N, Janssen JA, Heutink P, et al. Association between genetic variation in the gene for insulin-like growth factor-l and low birthweight. Lancet. 2002;359(9311):1036–7.PubMedCrossRef Vaessen N, Janssen JA, Heutink P, et al. Association between genetic variation in the gene for insulin-like growth factor-l and low birthweight. Lancet. 2002;359(9311):1036–7.PubMedCrossRef
68.
Zurück zum Zitat Freathy RM, Mook-Kanamori DO, Sovio U, et al. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet. 2010;42(5):430–5.PubMedPubMedCentralCrossRef Freathy RM, Mook-Kanamori DO, Sovio U, et al. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet. 2010;42(5):430–5.PubMedPubMedCentralCrossRef
69.
Zurück zum Zitat Ryckman KK, Feenstra B, Shaffer JR, et al. Replication of a genome-wide association study of birth weight in preterm neonates. J Pediatr. 2012;160(1):19–24.e4.PubMedCrossRef Ryckman KK, Feenstra B, Shaffer JR, et al. Replication of a genome-wide association study of birth weight in preterm neonates. J Pediatr. 2012;160(1):19–24.e4.PubMedCrossRef
70.
Zurück zum Zitat Dupuis J, Langenberg C, Prokopenko I, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010;42(2):105–16.PubMedPubMedCentralCrossRef Dupuis J, Langenberg C, Prokopenko I, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010;42(2):105–16.PubMedPubMedCentralCrossRef
71.••
Zurück zum Zitat Horikoshi M, Beaumont RN, Day FR, et al. Genome-wide associations for birth weight and correlations with adult disease. Nature. 2016;538(7624):248–52. Horikoshi et al. have several fundamental findings within a large and diverse genome-wide association study. Within, they describe 60 loci that have a genome-wide association with low birthweight. They also demonstrate a genetic correlation between lower birth weight and increased cardiovascular risk later in life.PubMedPubMedCentralCrossRef Horikoshi M, Beaumont RN, Day FR, et al. Genome-wide associations for birth weight and correlations with adult disease. Nature. 2016;538(7624):248–52. Horikoshi et al. have several fundamental findings within a large and diverse genome-wide association study. Within, they describe 60 loci that have a genome-wide association with low birthweight. They also demonstrate a genetic correlation between lower birth weight and increased cardiovascular risk later in life.PubMedPubMedCentralCrossRef
72.
Zurück zum Zitat Davis MB, Arany Z, McNamara DM, et al. Peripartum cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. 2020;75(2):207–21.PubMedCrossRef Davis MB, Arany Z, McNamara DM, et al. Peripartum cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. 2020;75(2):207–21.PubMedCrossRef
73.
Zurück zum Zitat Pearson G, Veille J, Rahimtoola S, et al. Peripartum cardiomyopathy: national heart lung and blood institute and office of rare disease, workshop recommendations and review. JAMA. 2000;283(9):1183–8.PubMedCrossRef Pearson G, Veille J, Rahimtoola S, et al. Peripartum cardiomyopathy: national heart lung and blood institute and office of rare disease, workshop recommendations and review. JAMA. 2000;283(9):1183–8.PubMedCrossRef
74.
Zurück zum Zitat Pierce JA, Price BO, Joyce JW. Familial occurrence of postpartal heart failure. Arch Intern Med. 1963;111(5):651–5.PubMedCrossRef Pierce JA, Price BO, Joyce JW. Familial occurrence of postpartal heart failure. Arch Intern Med. 1963;111(5):651–5.PubMedCrossRef
75.
Zurück zum Zitat Voss EG, Reddy CR, Detrano R, et al. Familial dilated cardiomyopathy. Am J Cardiol. 1984;54(3):456–7.PubMedCrossRef Voss EG, Reddy CR, Detrano R, et al. Familial dilated cardiomyopathy. Am J Cardiol. 1984;54(3):456–7.PubMedCrossRef
76.
Zurück zum Zitat Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N England J Med. 2012;366(7):619–28.CrossRef Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N England J Med. 2012;366(7):619–28.CrossRef
77.
Zurück zum Zitat van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, et al. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. Eur Heart J. 2014;35(32):2165–73.PubMedCrossRef van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, et al. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. Eur Heart J. 2014;35(32):2165–73.PubMedCrossRef
78.
Zurück zum Zitat Ware JS, Li J, Mazaika E, et al. Shared genetic predisposition in peripartum and dilated cardiomyopathies. N England J Med. 2016;374(3):233–41.CrossRef Ware JS, Li J, Mazaika E, et al. Shared genetic predisposition in peripartum and dilated cardiomyopathies. N England J Med. 2016;374(3):233–41.CrossRef
79.
81.
Zurück zum Zitat Bello N, Rendon ISH, Arany Z. The relationship between pre-eclampsia and peripartum cardiomyopathy: a systematic review and meta-analysis. J Am Coll Cardiol. 2013;62(18):1715–23.PubMedPubMedCentralCrossRef Bello N, Rendon ISH, Arany Z. The relationship between pre-eclampsia and peripartum cardiomyopathy: a systematic review and meta-analysis. J Am Coll Cardiol. 2013;62(18):1715–23.PubMedPubMedCentralCrossRef
82.
Zurück zum Zitat Behrens I, Basit S, Lykke JA, et al. Association between hypertensive disorders of pregnancy and later risk of cardiomyopathy. Jama. 2016;315(10):1026–33.PubMedCrossRef Behrens I, Basit S, Lykke JA, et al. Association between hypertensive disorders of pregnancy and later risk of cardiomyopathy. Jama. 2016;315(10):1026–33.PubMedCrossRef
83.
Zurück zum Zitat Gammill HS, Chettier R, Brewer A, et al. Cardiomyopathy and preeclampsia. Circulation. 2018;138(21):2359–66.PubMedCrossRef Gammill HS, Chettier R, Brewer A, et al. Cardiomyopathy and preeclampsia. Circulation. 2018;138(21):2359–66.PubMedCrossRef
Metadaten
Titel
Genetic Contributions to Risk of Adverse Pregnancy Outcomes
verfasst von
Zachary H. Hughes
Lydia M. Hughes
Sadiya S. Khan
Publikationsdatum
28.09.2023
Verlag
Springer US
Erschienen in
Current Cardiovascular Risk Reports / Ausgabe 11/2023
Print ISSN: 1932-9520
Elektronische ISSN: 1932-9563
DOI
https://doi.org/10.1007/s12170-023-00729-y

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