Paternal age and risk for selected birth defects in a large South American sample.
anal atresia
birth defect
esophageal atresia
maternal age
paternal age
preaxial polydactyly
Journal
Birth defects research
ISSN: 2472-1727
Titre abrégé: Birth Defects Res
Pays: United States
ID NLM: 101701004
Informations de publication
Date de publication:
15 Nov 2023
15 Nov 2023
Historique:
revised:
05
09
2023
received:
03
04
2023
accepted:
06
09
2023
medline:
29
11
2023
pubmed:
20
9
2023
entrez:
20
9
2023
Statut:
ppublish
Résumé
The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.
Sections du résumé
BACKGROUND
BACKGROUND
The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA.
OBJECTIVES
OBJECTIVE
The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA.
METHODS
METHODS
The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables.
RESULTS
RESULTS
Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed.
CONCLUSIONS
CONCLUSIONS
Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1866-1875Subventions
Organisme : Agencia Nacional de Promoción Científica y Tecnológica (ANPCyT-MINCyT)
ID : PICT-2018-4274
Organisme : Agencia Nacional de Promoción Científica y Tecnológica (ANPCyT-MINCyT)
ID : PICT-2018-4285
Organisme : Agencia Nacional de Promoción Científica y Tecnológica (ANPCyT-MINCyT)
ID : PICT-2018-4275
Organisme : Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET)
Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Al-Qattan, M. M., Shamseldin, H. E., Salih, M. A., & Alkuraya, F. S. (2017). GLI3-related polydactyly: A review. Clinical Genetics, 92(5), 457-466. https://doi.org/10.1111/cge.12952
Álvarez, L. F. G., Tenorio-Castaño, J., Poletta, F. A., Santos-Simarro, F., Arias, P., Gallego, N., Orioli, I. M., Mundlos, S., Castilla, E. E., Martínez-Glez, V., Martínez-Frías, M. L., Ruiz-Pérez, V. L., Nevado, J., & Lapunzina, P. (2023). A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American Journal of Medical Genetics. Part A, 191(1), 100-107. https://doi.org/10.1002/ajmg.a.62994
Archer, N. P., Langlois, P. H., Suarez, L., Brender, J., & Shanmugam, R. (2007). Association of paternal age with prevalence of selected birth defects. Birth Defects Research. Part A, Clinical and Molecular Teratology, 79(1), 27-34. https://doi.org/10.1002/bdra.20316
Barisic, I., Boban, L., Greenlees, R., Garne, E., Wellesley, D., Calzolari, E., Addor, M. C., Arriola, L., Bergman, J. E., Braz, P., Budd, J. L., Gatt, M., Haeusler, M., Khoshnood, B., Klungsoyr, K., McDonnell, B., Nelen, V., Pierini, A., Queisser-Wahrendorf, A., … Dolk, H. (2014). Holt Oram syndrome: A registry-based study in Europe. Orphanet Journal of Rare Diseases, 25(9), 156. https://doi.org/10.1186/s13023-014-0156-y
Biesecker, L. G. (2011). Polydactyly: How many disorders and how many genes? 2010 update. Developmental Dynamics, 240(5), 931-942. https://doi.org/10.1002/dvdy.22609
Bingle, G. J., & Niswander, J. D. (1975). Polydactyly in the American Indian. American Journal of Human Genetics, 27(1), 91-99.
Böhm, J., Munk-Schulenburg, S., Felscher, S., & Kohlhase, J. (2006). SALL1 mutations in sporadic Townes-brocks syndrome are of predominantly paternal origin without obvious paternal age effect. American Journal of Medical Genetics Part A, 140A(18), 1904-1908.
Braulke, I., Herzog, S., Thies, U., & Zoll, B. (1991). Holt-Oram syndrome in four half-siblings with unaffected parents: Brief clinical report. Clinical Genetics, 39(4), 241-244. https://doi.org/10.1111/j.1399-0004.1991.tb03021.x
Bray, I., Gunnell, D., & Davey Smith, G. (2006). Advanced paternal age: How old is too old? Journal of Epidemiology and Community Health, 60(10), 851-853. https://doi.org/10.1136/jech.2005.045179
Campaña, H., Pawluk, M. S., López Camelo, J. S., & ECLAMC. Grupo de Estudio. (2010). Prevalencia al nacimiento de 27 anomalías congénitas seleccionadas, en 7 regiones geográficas de la Argentina. Archivos Argentinos de Pediatría, 108(5), 409-417.
Castilla, E., Paz, J., Mutchinick, O., Muñoz, E., Giorgiutti, E., & Gelman, Z. (1973). Polydactyly: A genetic study in South America. American Journal of Human Genetics, 25(4), 405-412.
Castilla, E. E., Lugarinho, R., da Graça Dutra, M., & Salgado, L. J. (1998). Associated anomalies in individuals with polydactyly. American Journal of Medical Genetics, 80(5), 459-465. https://doi.org/10.1002/(SICI)1096-8628(19981228)80:5<459::AID-AJMG5>3.0.CO;2-G
Castilla, E. E., & Orioli, I. M. (2004). ECLAMC: The Latin-American collaborative study of congenital malformations. Community Genetics, 7(2-3), 76-94. https://doi.org/10.1159/000080776
Chan, P. T. K., & Robaire, B. (2022). Advanced paternal age and future generations. Frontiers in Endocrinology, 9(13), 897101. https://doi.org/10.3389/fendo.2022.897101
du Fossé, N. A., van der Hoorn, M. P., van Lith, J. M. M., le Cessie, S., & Lashley, E. E. L. O. (2020). Advanced paternal age is associated with an increased risk of spontaneous miscarriage: A systematic review and meta-analysis. Human Reproduction Update, 26(5), 650-669. https://doi.org/10.1093/humupd/dmaa010
Dviri, M., Madjunkova, S., Koziarz, A., Antes, R., Abramov, R., Mashiach, J., Moskovtsev, S., Kuznyetsova, I., & Librach, C. (2020). Is there a correlation between paternal age and aneuploidy rate? An analysis of 3,118 embryos derived from young egg donors. Fertility and Sterility, 114(2), 293-300. https://doi.org/10.1016/j.fertnstert.2020.03.034
Fang, Y., Wang, Y., Peng, M., Xu, J., Fan, Z., Liu, C., Zhao, K., & Zhang, H. (2020). Effect of paternal age on offspring birth defects: A systematic review and meta-analysis. Aging, 12(24), 25373-25394. https://doi.org/10.18632/aging.104141
Fisch, H., Hyun, G., Golden, R., Hensle, T. W., Olsson, C. A., & Liberson, G. L. (2003). The influence of paternal age on down syndrome. The Journal of Urology, 169(6), 2275-2278. https://doi.org/10.1097/01.ju.0000067958.36077.d8
Gonzalez, O. (2023). Summary intervals for model-based classification accuracy and consistency indices. Educational and Psychological Measurement, 83(2), 240-261. https://doi.org/10.1177/00131644221092347
Green, R. F., Devine, O., Crider, K. S., Olney, R. S., Archer, N., Olshan, A. F., Shapira, S. K., & National Birth Defects Prevention Study. (2010). Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004. Annals of Epidemiology, 20(3), 241-249. https://doi.org/10.1016/j.annepidem.2009.10.009
Grewal, J., Carmichael, S. L., Yang, W., & Shaw, G. M. (2012). Paternal age and congenital malformations in offspring in California, 1989-2002. Maternal and Child Health Journal, 16(2), 385-392. https://doi.org/10.1007/s10995-011-0759-z
Hook, E. B. (1984). Parental age and unbalanced Robertsonian translocations associated with down syndrome and Patau syndrome: Comparison with maternal and paternal age effects for 47, +21 and 47, +13. Annals of Human Genetics, 48(4), 313-325. https://doi.org/10.1111/j.1469-1809.1984.tb00845.x
Janeczko, D., Hołowczuk, M., Orzeł, A., Klatka, B., & Semczuk, A. (2020). Paternal age is affected by genetic abnormalities, perinatal complications and mental health of the offspring. Biomedical Reports, 12(3), 83-88. https://doi.org/10.3892/br.2019.1266
Källén, B., Mastroiacovo, P., & Robert, E. (1996). Major congenital malformations in down syndrome. American Journal of Medical Genetics, 65(2), 160-166. https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<160::AID-AJMG163.0.CO;2-O
Kazaura, M., & Lie, R. T. (2002). Down's syndrome and paternal age in Norway. Paediatric and Perinatal Epidemiology, 16(4), 314-319. https://doi.org/10.1046/j.1365-3016.2002.00446.x
Kazaura, M., Lie, R. T., & Skjaerven, R. (2004). Paternal age and the risk of birth defects in Norway. Annals of Epidemiology, 14(8), 566-570. https://doi.org/10.1016/j.annepidem.2003.10.003
Kühnert, B., & Nieschlag, E. (2004). Reproductive functions of the aging male. Human Reproduction Update, 10(4), 327-339. https://doi.org/10.1093/humupd/dmh030
Lawson, G., & Fletcher, R. (2014). Delayed fatherhood. The Journal of Family Planning and Reproductive Health Care, 40(4), 283-288. https://doi.org/10.1136/jfprhc-2013-100866
Lian, Z. H., Zack, M. M., & Erickson, J. D. (1986). Paternal age and the occurrence of birth defects. American Journal of Human Genetics, 39(5), 648-660.
López Camelo, J. S., Campaña, H., Santos, R., & Poletta, F. A. (2006). Effect of the interaction between high altitude and socioeconomic factors on birth weight in a large sample from South America. American Journal of Physical Anthropology, 129(2), 305-310. https://doi.org/10.1002/ajpa.20274
Malik, S. (2014). Polydactyly: Phenotypes, genetics and classification. Clinical Genetics, 85(3), 203-212. https://doi.org/10.1111/cge.12276
Materna-Kiryluk, A., Jamsheer, A., Wisniewska, K., Wieckowska, B., Limon, J., Borszewska-Kornacka, M., Sawulicka-Oleszczuk, H., Szwalkiewicz-Warowicka, E., & Latos-Bielenska, A. (2013). Epidemiology of isolated preaxial polydactyly type I: Data from the polish registry of congenital malformations (PRCM). BMC Pediatrics, 19(13), 26. https://doi.org/10.1186/1471-2431-13-26
McIntosh, G. C., Olshan, A. F., & Baird, P. A. (1995). Paternal age and the risk of birth defects in offspring. Epidemiology, 6(3), 282-288. https://doi.org/10.1097/00001648-199505000-00016
Nybo Andersen, A. M., & Urhoj, S. K. (2017). Is advanced paternal age a health risk for the offspring? Fertility and Sterility, 107(2), 312-318. https://doi.org/10.1016/j.fertnstert.2016.12.019
Olson, S. B., & Magenis, R. E. (1988). Preferential paternal origin of de novo structural chromosome rearrangements. In A. Daniel (Ed.), The cytogenetics of mammalian autosomal rearrangements (pp. 583-599). Liss.
Orioli, I. M., & Castilla, E. E. (1999). Thumb/hallux duplication and preaxial polydactyly type I. American Journal of Medical Genetics, 82(3), 219-224.
Orioli, I. M., Castilla, E. E., Scarano, G., & Mastroiacovo, P. (1995). Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. American Journal of Medical Genetics, 59(2), 209-217. https://doi.org/10.1002/ajmg.1320590218
Peng, J., Meng, Z., Zhou, S., Zhou, Y., Wu, Y., Wang, Q., Wang, J., & Sun, K. (2019). The non-genetic paternal factors for congenital heart defects: A systematic review and meta-analysis. Clinical Cardiology, 42(7), 684-691. https://doi.org/10.1002/clc.23194
Penrose, L. S. (1955). Parental age and mutation. Lancet, 269(6885), 312-313. https://doi.org/10.1016/s0140-6736(55)92305-9
Penrose, L. S. (1957). Parental age in achondroplasia and mongolism. American Journal of Human Genetics, 9(3), 167-169.
Polednak, A. P. (1976). Paternal age in relation to selected birth defects. Human Biology, 48(4), 727-739.
Poletta, F. A., Gili, J. A., & Castilla, E. E. (2014). Latin American collaborative study of congenital malformations (ECLAMC): A model for health collaborative studies. Public Health Genomics, 17(2), 61-67. https://doi.org/10.1159/000356568
Risch, N., Reich, E. W., Wishnick, M. M., & McCarthy, J. G. (1987). Spontaneous mutation and parental age in humans. American Journal of Human Genetics, 41(2), 218-248.
Rittler, M., Paz, J. E., & Castilla, E. E. (1996). VACTERL association, epidemiologic definition and delineation. American Journal of Medical Genetics, 63(4), 529-536. https://doi.org/10.1002/(SICI)1096-8628(19960628)63:4<529::AID-AJMG4>3.0.CO;2-J
Sartorelli, E. M., Mazzucatto, L. F., & de Pina-Neto, J. M. (2001). Effect of paternal age on human sperm chromosomes. Fertility and Sterility, 76(6), 1119-1123. https://doi.org/10.1016/s0015-0282(01)02894-1
Slama, R., & Werwatz, A. (2005). Controlling for continuous confounding factors: Non- and semiparametric approaches. Revue d'Épidémiologie et de Santé Publique, 53(Supplement 2), 65-80. https://doi.org/10.1016/S0398-7620(05)84769-8
Stene, J. (1978). Nondisjunction, consanguinity and parental ages. The Indian Journal of Medical Research, 68, 641-643.
Stene, J., & Stene, E. (1977). Statistical methods for detecting a moderate paternal age effect on incidence of disorder when a maternal one is present. Annals of Human Genetics, 40, 343-353. https://doi.org/10.1111/j.1469-1809.1977.tb00198.x
Temtamy, S. A., & McKusick, V. A. (1978). The genetics of hand malformations. Alan R. Liss.
Thompson, J. A. (2019). Disentangling the roles of maternal and paternal age on birth prevalence of down syndrome and other chromosomal disorders using a Bayesian modeling approach. BMC Medical Research Methodology, 19(1), 82. https://doi.org/10.1186/s12874-019-0720-1
Umair, M., Ahmad, F., Bilal, M., Ahmad, W., & Alfadhel, M. (2018). Clinical genetics of polydactyly: An updated review. Frontiers in Genetics, 6(9), 447. https://doi.org/10.3389/fgene.2018.00447
Urhoj, S. K., Mortensen, L. H., & Nybo Andersen, A. M. (2015). Advanced paternal age and risk of musculoskeletal congenital anomalies in offspring. Birth Defects Research. Part B, Developmental and Reproductive Toxicology, 104(6), 273-280. https://doi.org/10.1002/bdrb.21167
Villalba, M. I., Campaña, H., Scala, S. C., Pawluk, M. S., & López Camelo, J. S. (2015). Riesgo de anomalías congénitas en grupos étnicos de Sudamérica. Revista Argentina de Antropología Biológica, 1, 19-27. https://doi.org/10.17139/raab.2015.0017.01.04
Wang, T., Xuan, Z., Dou, Y., Liu, Y., Fu, Y., Ren, J., & Lu, L. (2019). Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing. Molecular Genetics & Genomic Medicine, 7(6), e690. https://doi.org/10.1002/mgg3.690
Wood, K. A., & Goriely, A. (2022). The impact of paternal age on new mutations and disease in the next generation. Fertility and Sterility, 118(6), 1001-1012. https://doi.org/10.1016/j.fertnstert.2022.10.017
Yang, Q., Wen, S. W., Leader, A., Chen, X. K., Lipson, J., & Walker, M. (2007). Paternal age and birth defects: How strong is the association? Human Reproduction, 22(3), 696-701. https://doi.org/10.1093/humrep/del453
Zhang, C., Yan, L., & Qiao, J. (2022). Effect of advanced parental age on pregnancy outcome and offspring health. Journal of Assisted Reproduction and Genetics, 39(9), 1969-1986. https://doi.org/10.1007/s10815-022-02533-w
Zhu, J. L., Madsen, K. M., Vestergaard, M., Olesen, A. V., Basso, O., & Olsen, J. (2005). Paternal age and congenital malformations. Human Reproduction, 20(11), 3173-3177. https://doi.org/10.1093/humrep/dei186