La asociación entre la presencia de enfermedad genética en la descendencia y la edad paterna: una revisión sistemática

Autores/as

  • Daniela Franco-Buenaventura Universidad del Valle. Cali, Colombia.
  • Sidney Glina Centro Universitario FMABC, Santo André, Brasil.
  • Herney Andrés García-Perdomo Universidad del Valle. Cali, Colombia.

DOI:

https://doi.org/10.48193/revistamexicanadeurologa.v82i5.945

Palabras clave:

Envejecimiento paterno, enfermedades genéticas, edad paterna avanzada, revisión sistemática

Resumen

Objetivo: Determinar la asociación entre la presencia de enfermedad genética en la descendencia y la edad paterna.

 

Métodos: Realizamos una revisión sistemática en: Medline (Ovid), EMBASE, The Cochrane Central Register of Controlled Trials (CENTRAL), desde el inicio hasta octubre de 2022. Incluimos ECA, estudios de cohortes, de casos y controles y transversales. Cada estudio fue evaluado de acuerdo con los criterios de elegibilidad. El metaanálisis no fue posible dada la heterogeneidad clínica y metodológica.

 

Resultados: Identificamos 502 estudios a través de la búsqueda en la base de datos. Se seleccionaron cuarenta y cinco estudios para la recopilación de datos y se incluyeron en el análisis cualitativo. En esta revisión sistemática no encontramos asociaciones con anomalías como trisomía 18, trastorno obsesivo compulsivo, síndrome de Tourette, trastorno esquizoafectivo, resultados perinatales adversos, alteraciones hematológicas, microcefalia, hidrocefalia, alteraciones gastrointestinales, labio hendido con o sin paladar hendido, paladar hendido y trastornos genitourinarios. Por el contrario, encontramos una tendencia de asociación entre padres mayores y trastornos psiquiátricos (esquizofrenia, autismo, síndrome de trastorno bipolar, discapacidad intelectual), cáncer del sistema nervioso y anomalías congénitas musculoesqueléticas en general.

 

Conclusión: Existe una tendencia de asociación entre la edad paterna avanzada y un mayor número de malformaciones congénitas respecto a algunas condiciones específicas.

 

Citas

References

Sagi-Dain L, Sagi S, Dirnfeld M. Effect of paternal age on reproductive outcomes in oocyte donation model: a systematic review. Fertil Steril. 2015 Oct;104(4):857-865.e1. doi: https://doi.org/10.1016/j.fertnstert.2015.06.036

Hamilton BE, Hoyert DL, Martin JA, Strobino DM, Guyer B. Annual summary of vital statistics: 2010-2011. Pediatrics. 2013 Mar;131(3):548–58. doi: https://doi.org/10.1542/peds.2012-3769

Mills M, Rindfuss RR, McDonald P, te Velde E, ESHRE Reproduction and Society Task Force. Why do people postpone parenthood? Reasons and social policy incentives. Hum Reprod Update. 2011 Dec;17(6):848–60. doi: https://doi.org/10.1093/humupd/dmr026

Maheshwari A, Hamilton M, Bhattacharya S. Effect of female age on the diagnostic categories of infertility. Hum Reprod. 2008 Mar;23(3):538–42. doi: https://doi.org/10.1093/humrep/dem431

Heffner LJ. Advanced maternal age--how old is too old? N Engl J Med. 2004 Nov 4;351(19):1927–9. doi: https://doi.org/10.1056/nejmp048087

Stone BA, Alex A, Werlin LB, Marrs RP. Age thresholds for changes in semen parameters in men. Fertil Steril. 2013 Oct;100(4):952–8. doi: https://doi.org/10.1016/j.fertnstert.2013.05.046

de la Rochebrochard E, Thonneau P. Paternal age and maternal age are risk factors for miscarriage; results of a multicentre European study. Hum Reprod. 2002 Jun;17(6):1649–56. doi: https://doi.org/10.1093/humrep/17.6.1649

Lian ZH, Zack MM, Erickson JD. Paternal age and the occurrence of birth defects. Am J Hum Genet. 1986 Nov;39(5):648–60.

Kühnert B, Nieschlag E. Reproductive functions of the ageing male. Hum Reprod Update. 2004 Aug;10(4):327–39. doi: https://doi.org/10.1093/humupd/dmh030

Humm KC, Sakkas D. Role of increased male age in IVF and egg donation: is sperm DNA fragmentation responsible? Fertil Steril. 2013 Jan;99(1):30–6. doi: https://doi.org/10.1016/j.fertnstert.2012.11.024

Naguib KK, Al-Awadi SA, Moussa MA, Bastaki L, Gouda S, Redha MA, et al. Trisomy 18 in Kuwait. Int J Epidemiol. 1999 Aug;28(4):711–6. doi: https://doi.org/10.1093/ije/28.4.711

Rintala H, Chudal R, Leppämäki S, Leivonen S, Hinkka-Yli-Salomäki S, Sourander A. Register-based study of the incidence, comorbidities and demographics of obsessive-compulsive disorder in specialist healthcare. BMC Psychiatry. 2017 Feb 10;17(1):64. doi: https://doi.org/10.1186/s12888-017-1224-3

Contreras ZA, Hansen J, Ritz B, Olsen J, Yu F, Heck JE. Parental age and childhood cancer risk: A Danish population-based registry study. Cancer Epidemiol. 2017 Aug;49:202–15. doi: https://doi.org/10.1016/j.canep.2017.06.010

Hurley EG, DeFranco EA. Influence of paternal age on perinatal outcomes. Am J Obstet Gynecol. 2017 Nov;217(5):566.e1-566.e6. doi: https://doi.org/10.1016/j.ajog.2017.07.034

Sotonica M, Mackic-Djurovic M, Hasic S, Kiseljakovic E, Jadric R, Ibrulj S. Association of Parental Age and the Type of Down Syndrome on the Territory of Bosnia and Herzegovina. Med Arch. 2016 Apr;70(2):88–91. doi: https://doi.org/10.5455/medarh.2016.70.88-91

Bilder DA, Pinborough-Zimmerman J, Bakian AV, Miller JS, Dorius JT, Nangle B, et al. Prenatal and perinatal factors associated with intellectual disability. Am J Intellect Dev Disabil. 2013 Mar;118(2):156–76. doi: https://doi.org/10.1352/1944-7558-118.2.156

Fountoulakis KN, Gonda X, Siamouli M, Panagiotidis P, Moutou K, Nimatoudis I, et al. Paternal and maternal age as risk factors for schizophrenia: a case–control study. Int J Psychiatry Clin Pract. 2018 Jul 3;22(3):170–6. doi: https://doi.org/10.1080/13651501.2017.1391292

Eisenberg ML, Lathi RB, Baker VL, Westphal LM, Milki AA, Nangia AK. Frequency of the male infertility evaluation: data from the national survey of family growth. J Urol. 2013 Mar;189(3):1030–4. doi: https://doi.org/10.1016/j.juro.2012.08.239

Marsidi AM, Kipling LM, Kawwass JF, Mehta A. Influence of paternal age on assisted reproductive technology cycles and perinatal outcomes. Fertil Steril. 2021 Aug;116(2):380–7. doi: https://doi.org/10.1016/j.fertnstert.2021.03.033

Bartoli A, Hornberger KL, King A, Bachman N, Young D, Klepacka D, et al. Advanced paternal age is associated with a decrease in fertilization rates and increase in blastocyst sex chromosome aneuploidy. Fertil Steril. 2017 Sep 1;108(3):e294. doi: https://doi.org/10.1016/j.fertnstert.2017.07.868

Fahmideh MA, Tettamanti G, Lavebratt C, Talbäck M, Mathiesen T, Lannering B, et al. Parental age and risk of genetic syndromes predisposing to nervous system tumors: nested case–control study. Clin Epidemiol. 2018 Jun 20;10:729–38. doi: https://doi.org/10.2147%2FCLEP.S159183

McGrath JJ, Petersen L, Agerbo E, Mors O, Mortensen PB, Pedersen CB. A comprehensive assessment of parental age and psychiatric disorders. JAMA Psychiatry. 2014 Mar;71(3):301–9. doi: https://doi.org/10.1001/jamapsychiatry.2013.4081

Larfors G, Hallböök H, Simonsson B. Parental age, family size, and offspring’s risk of childhood and adult acute leukemia. Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1185–90. doi: https://doi.org/10.1158/1055-9965.epi-12-0178

Barbosa-Buck CO, Orioli IM, da Graça Dutra M, Lopez-Camelo J, Castilla EE, Cavalcanti DP. Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A. 2012 May;158A(5):1038–45. doi: https://doi.org/10.1002/ajmg.a.35246

Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, et al. The importance of advanced parental age in the origin of neurofibromatosis type 1. Am J Med Genet A. 2012 Mar;158A(3):519–23. doi: https://doi.org/10.1002/ajmg.a.34413

Yip BH, Pawitan Y, Czene K. Parental age and risk of childhood cancers: a population-based cohort study from Sweden. Int J Epidemiol. 2006 Dec;35(6):1495–503. doi: https://doi.org/10.1093/ije/dyl177

Zhu JL, Madsen KM, Vestergaard M, Olesen AV, Basso O, Olsen J. Paternal age and congenital malformations. Hum Reprod. 2005 Nov;20(11):3173–7. doi: https://doi.org/10.1093/humrep/dei186

Malini SS, Ramachandra NB. Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet. 2006 Jan 14;7:4. doi: https://doi.org/10.1186/1471-2350-7-4

De Souza E, Alberman E, Morris JK. Down syndrome and paternal age, a new analysis of case-control data collected in the 1960s. Am J Med Genet A. 2009 Jun;149A(6):1205–8. doi: https://doi.org/10.1002/ajmg.a.32850

McIntosh GC, Olshan AF, Baird PA. Paternal age and the risk of birth defects in offspring. Epidemiology. 1995 May;6(3):282–8. doi: https://doi.org/10.1097/00001648-199505000-00016

de Michelena MI, Burstein E, Lama JR, Vásquez JC. Paternal age as a risk factor for Down syndrome. Am J Med Genet. 1993 Mar 15;45(6):679–82. doi: https://doi.org/10.1002/ajmg.1320450605

Byrne M, Agerbo E, Ewald H, Eaton WW, Mortensen PB. Parental age and risk of schizophrenia: a case-control study. Arch Gen Psychiatry. 2003 Jul;60(7):673–8. doi: https://doi.org/10.1001/archpsyc.60.7.673

Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, et al. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. Birth Defects Res A Clin Mol Teratol. 2003 Feb;67(2):125–32. doi: https://doi.org/10.1002/bdra.10009

Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet. 1995 Nov 6;59(2):209–17. doi: https://doi.org/10.1002/ajmg.1320590218

Burd L, Severud R, Klug MG, Kerbeshian J. Prenatal and perinatal risk factors for Tourette disorder. J Perinat Med. 1999;27(4):295–302. doi: https://doi.org/10.1515/jpm.1999.042

Bunin GR, Needle M, Riccardi VM. Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues. Genet Epidemiol. 1997;14(5):507–16. doi: https://doi.org/10.1002/(sici)1098-2272(1997)14:5%3C507::aid-gepi5%3E3.0.co;2-y

Catherino AB, Hayward B, Sharara FI, Bromer JG, Catherino WH. Focused training in embryology and genetics showed improved reproductive nurses counseling confidence: results of a survey study. Fertil Steril. 2018 Mar 1;109(3):e17. doi: https://doi.org/10.1016/j.fertnstert.2018.02.038

Carrasquillo R, Kohn T, Al -Asmar Pinar Nasser, Simon C, Rubio C, Ramasamy R. Pd09-01 advanced paternal age affects embryo aneuploidy in egg donor cycles. J Urol. 2018 Apr;199(4S):e222–e222. doi: ://doi.org/10.1016/j.juro.2018.02.598

Olson JM, Breslow NE, Beckwith JB. Wilms’ tumour and parental age: a report from the National Wilms’ Tumour Study. Br J Cancer. 1993 Apr;67(4):813–8. doi: https://doi.org/10.1038/bjc.1993.148

Sharpe CR, Franco EL, de Camargo B, Lopes LF, Barreto J, Johnsson R, et al. The influence of parental age on the risk of Wilms’ tumour. Paediatr Perinat Epidemiol. 1999 Apr;13(2):138–43. doi: https://doi.org/10.1046/j.1365-3016.1999.00168.x

Fisch H, Hyun G, Golden R, Hensle TW, Olsson CA, Liberson GL. The influence of paternal age on down syndrome. J Urol. 2003 Jun;169(6):2275–8. doi: https://doi.org/10.1097/01.ju.0000067958.36077.d8

Yoon PW, Freeman SB, Sherman SL, Taft LF, Gu Y, Pettay D, et al. Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study. Am J Hum Genet. 1996 Mar;58(3):628–33.

Stene J, Stene E, Stengel-Rutkowski S, Murken JD. Paternal age and Down’s syndrome: data from prenatal diagnoses (DFG). Hum Genet. 1981;59(2):119–24. doi: https://doi.org/10.1007/bf00293059

Hook EB, Cross PK, Lamson SH, Regal RR, Baird PA, Uh SH. Paternal age and Down syndrome in British Columbia. Am J Hum Genet. 1981 Jan;33(1):123–8.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet. 1990 Oct;85(6):635–42. doi: https://doi.org/10.1007/bf00193589

Chudal R, Gissler M, Sucksdorff D, Lehti V, Suominen A, Hinkka-Yli-Salomäki S, et al. Parental age and the risk of bipolar disorders. Bipolar Disord. 2014 Sep;16(6):624–32. doi: https://doi.org/10.1111/bdi.12182

Fond G, Godin O, Boyer L, Llorca P-M, Andrianarisoa M, Brunel L, et al. Advanced paternal age is associated with earlier schizophrenia onset in offspring. Results from the national multicentric FACE-SZ cohort. Psychiatry Res. 2017 Aug;254:218–23. doi: https://doi.org/10.1016/j.psychres.2017.04.002

Sørensen HJ, Pedersen CB, Nordentoft M, Mortensen PB, Ehrenstein V, Petersen L. Effects of paternal age and offspring cognitive ability in early adulthood on the risk of schizophrenia and related disorders. Schizophr Res. 2014 Dec;160(1–3):131–5. doi: https://doi.org/10.1016/j.schres.2014.09.035

Urhoj SK, Mortensen LH, Nybo Andersen A-M. Advanced Paternal Age and Risk of Musculoskeletal Congenital Anomalies in Offspring. Birth Defects Res B Dev Reprod Toxicol. 2015 Dec;104(6):273–80. doi: https://doi.org/10.1002/bdrb.21167

Gingold J, Whitehouse MC, Lee JA, Parsons S, Bar-Chama N, Copperman AB. Male partner age is not associated with increased rate of embryonic aneuploidy. Fertil Steril. 2015 Sep 1;104(3):e64. doi: https://doi.org/10.1016/j.fertnstert.2015.07.195

Crump C, Sundquist J, Sieh W, Winkleby MA, Sundquist K. Perinatal and familial risk factors for brain tumors in childhood through young adulthood. Cancer Res. 2015 Feb 1;75(3):576–83. doi: https://doi.org/10.1158/0008-5472.can-14-2285

Blumsohn A, McAllion SJ, Paterson CR. Excess paternal age in apparently sporadic osteogenesis imperfecta. Am J Med Genet. 2001 May 15;100(4):280–6. doi: https://doi.org/10.1002/ajmg.1269

Dockerty JD, Draper G, Vincent T, Rowan SD, Bunch KJ. Case-control study of parental age, parity and socioeconomic level in relation to childhood cancers. Int J Epidemiol. 2001 Dec;30(6):1428–37. doi: https://doi.org/10.1093/ije/30.6.1428

Zhang Y, Cupples LA, Rosenberg L, Colton T, Kreger BE. Parental ages at birth in relation to a daughter’s risk of breast cancer among female participants in the Framingham Study (United States). Cancer Causes Control. 1995 Jan;6(1):23–9. doi: https://doi.org/10.1007/bf00051677

Penrose LS. Parental age and mutation. Lancet. 1955 Aug 13;269(6885):312–3. doi: https://doi.org/10.1016/s0140-6736(55)92305-9

Risch N, Reich EW, Wishnick MM, McCarthy JG. Spontaneous mutation and parental age in humans. Am J Hum Genet. 1987 Aug;41(2):218–48.

Vogel F, Rathenberg R. Spontaneous mutation in man. Adv Hum Genet. 1975;5:223–318. doi: https://doi.org/10.1007/978-1-4615-9068-2_4

Miller B, Suvisaari J, Miettunen J, Järvelin M-R, Haukka J, Tanskanen A, et al. Advanced Paternal Age and Parental History of Schizophrenia. Schizophr Res. 2011 Dec;133(1–3):125–32. doi: https://doi.org/10.1016%2Fj.schres.2011.08.013

Friedman JM. Genetic disease in the offspring of older fathers. Obstet Gynecol. 1981 Jun;57(6):745–9.

Kluwe L, Mautner V, Parry DM, Jacoby LB, Baser M, Gusella J, et al. The parental origin of new mutations in neurofibromatosis 2. Neurogenetics. 2000 Sep;3(1):17–24. doi: https://doi.org/10.1007/s100480000088

Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet. 1992 Jan;88(3):279–82. doi: https://doi.org/10.1007/bf00197259

Takano T, Kawashima T, Yamanouchi Y, Kitayama K, Baba T, Ueno K, et al. Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect. Hum Genet. 1992 May;89(3):281–6. doi: https://doi.org/10.1007/bf00220540

Wiener-Megnazi Z, Auslender R, Dirnfeld M. Advanced paternal age and reproductive outcome. Asian J Androl. 2012 Jan;14(1):69–76. doi: https://doi.org/10.1038/aja.2011.69

Gillberg C. Parental age in child psychiatric clinic attenders. Acta Psychiatr Scand. 1982 Dec;66(6):471–8.

Ekéus C, Olausson PO, Hjern A. Psychiatric morbidity is related to parental age: a national cohort study. Psychol Med. 2006 Feb;36(2):269–76. doi: https://doi.org/10.1017/s0033291705006549

Lopez-Castroman J, Gómez DD, Belloso JJC, Fernandez-Navarro P, Perez-Rodriguez MM, Villamor IB, et al. Differences in maternal and paternal age between schizophrenia and other psychiatric disorders. Schizophr Res. 2010 Feb;116(2–3):184–90. doi: https://doi.org/10.1016/j.schres.2009.11.006

Wu Y, Liu X, Luo H, Deng W, Zhao G, Wang Q, et al. Advanced paternal age increases the risk of schizophrenia and obsessive–compulsive disorder in a Chinese Han population. Psychiatry Res. 2012 Aug 15;198(3):353–9. doi: https://doi.org/10.1016%2Fj.psychres.2012.01.020

Laursen TM, Munk-Olsen T, Nordentoft M, Bo Mortensen P. A comparison of selected risk factors for unipolar depressive disorder, bipolar affective disorder, schizoaffective disorder, and schizophrenia from a danish population-based cohort. J Clin Psychiatry. 2007 Nov;68(11):1673–81. doi: https://doi.org/10.4088/jcp.v68n1106

Dalman C, Allebeck P. Paternal age and schizophrenia: further support for an association. Am J Psychiatry. 2002 Sep;159(9):1591–2. doi: https://doi.org/10.1176/appi.ajp.159.9.1591

Malaspina D, Harlap S, Fennig S, Heiman D, Nahon D, Feldman D, et al. Advancing paternal age and the risk of schizophrenia. Arch Gen Psychiatry. 2001 Apr;58(4):361–7. doi: https://doi.org/10.1001/archpsyc.58.4.361

Malaspina D, Corcoran C, Fahim C, Berman A, Harkavy-Friedman J, Yale S, et al. Paternal age and sporadic schizophrenia: evidence for de novo mutations. Am J Med Genet. 2002 Apr 8;114(3):299–303. doi: https://doi.org/10.1002/ajmg.1701

Miller B, Messias E, Miettunen J, Alaräisänen A, Järvelin M-R, Koponen H, et al. Meta-analysis of paternal age and schizophrenia risk in male versus female offspring. Schizophr Bull. 2011 Sep;37(5):1039–47. doi: https://doi.org/10.1093/schbul/sbq011

Torrey EF, Buka S, Cannon TD, Goldstein JM, Seidman LJ, Liu T, et al. Paternal age as a risk factor for schizophrenia: how important is it? Schizophr Res. 2009 Oct;114(1–3):1–5. doi: https://doi.org/10.1016/j.schres.2009.06.017

Wohl M, Gorwood P. Paternal ages below or above 35 years old are associated with a different risk of schizophrenia in the offspring. Eur Psychiatry. 2007 Jan;22(1):22–6. doi: https://doi.org/10.1016/j.eurpsy.2006.08.007

Huff V, Meadows A, Riccardi VM, Strong LC, Saunders GF. Parental origin of de novo constitutional deletions of chromosomal band 11p13. Am J Hum Genet. 1990 Jul;47(1):155–60.

Pellié C, Briard M-L, Feingold J, Frézal J. Parental age in retinoblastoma. Hum Genet. 1973 Mar 1;20(1):59–62. doi: 10.1007/BF00280877

Erickson JD. Paternal age and Down syndrome. Am J Hum Genet. 1979 Jul;31(4):489–97.

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2022-11-23

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