Journals / Ahi Evran Tıp Dergisi / 2026 / Volume: 10 Issue: 1

Consanguineous Marriages: Genetic Approach

Akraba Evlilikleri: Genetik Yaklaşım

Neslihan Düzkale(ANKARA DIŞKAPI YILDIRIM BEYAZIT EĞİTİM VE ARAŞTIRMA HASTANESİ)0000-0001-6122-5316
Pages
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Publication Date
2026-04-29
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The aim of this review is to examine the relationship between AE and the etiology of diseases according to inheritance patterns and to emphasize the important role of genetic counseling in this practice.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Consanguineous marriages (AE) are common in many parts of the world, and the risk of some rare congenital anomalies and recessive Mendelian diseases is increased in AE children due to the increase in identical homozygous regions.
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Key Findings & Data:In AE studies, it has been reported that AE causes an increase in the risk of prenatal and perinatal losses and death in infancy and early childhood.
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Conclusion & Impact:The aim of this review is to examine the relationship between AE and the etiology of diseases according to inheritance patterns and to emphasize the important role of genetic counseling in this practice.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:consanguineous marriage · autosomal recessive inheritance · multifactorial inheritance

Abstract

Consanguineous marriages (AE) are common in many parts of the world, and the risk of some rare congenital anomalies and recessive Mendelian diseases is increased in AE children due to the increase in identical homozygous regions. In AE studies, it has been reported that AE causes an increase in the risk of prenatal and perinatal losses and death in infancy and early childhood. In studies investigating the relationship between AE and multifactorial inherited diseases such as cancer, diabetes, hypertension, cardiovascular diseases, and some autoimmune disorders, the results have been inconsistent. Genetic counseling in AE couples provides valuable guidance in determining the carrier status and estimating the risk for the offspring. The aim of this review is to examine the relationship between AE and the etiology of diseases according to inheritance patterns and to emphasize the important role of genetic counseling in this practice.

Özet

Akraba bireyler arasındaki evlilikler (AE), dünyanın birçok bölgesinde yaygın olarak görülmekte olup, AE çocuklarında özdeş homozigotluk bölgelerinin artmış olması nedeniyle bazı nadir görülen konjenital anomaliler ile çekinik Mendelyen hastalıkların riski yükselmiştir. AE çalışmalarında, AE’nin prenatal ve perinatal kayıplar ile bebeklik ve erken çocukluk dönem ölüm riskinde artışa neden olduğu bildirilmiştir. Kanser, diyabet, hipertansiyon, kardiyovasküler hastalıklar, bazı otoimmün bozukluklar gibi multifaktöriyel kalıtılan hastalıklar ile AE ilişkisinin araştırıldığı çalışmalarda ise sonuçlar tutarsız bulunmuştur. AE çiftlerinde genetik danışmanlık, taşıyıcılık durumunun tespitinde ve yavrular için risk tahmininde değerli bir rehberlik sunmaktadır. Bu derlemenin amacı, AE ve kalıtım modellerine göre hastalıkların etiyolojisi ilişkisinin irdelenmesi ve genetik danışmanlığın bu uygulamadaki önemli rolünün vurgulanmasıdır.

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Cite This Article

Düzkale, N. (2026). Consanguineous Marriages: Genetic Approach. Ahi Evran Tıp Dergisi, Volume: 10 Issue: 1. https://doi.org/10.46332/aemj.1724803

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References (50)

  1. Subramanian S. The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous Parents. Biology. 2025;14(3):310. doi.org/10.3390/biology14030310
  2. Yousef NA, ElHarouni AA, Shaik NA, et al. Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden. Hum Genomics. 2024;18(1):138. doi:10.1186/s40246-024-00700-x-x
  3. Benmakhlouf Y, Laghmich A, Ben Makhlouf K, Barakat A, Ghailani Nourouti N, Bennani Mechita M. Sociodemographic Factors and Consanguinity in Intellectual Disability: A Pilot Study. Innov Clin Neurosci. 2024;21(10):9-14
  4. Iqbal S, Zakar R, Fischer F, Zakar MZ. Consanguineous marriages and their association with women's reproductive health and fertility behavior in Pakistan: secondary data analysis from Demographic and Health Surveys, 1990-2018. BMC Womens Health. 2022;22(1):118. doi:10.1186/s12905-022-01704-2
  5. Maguire A, Tseliou F, O'Reilly D. Consanguineous Marriage and the Psychopathology of Progeny: A Population-wide Data Linkage Study. JAMA Psychiatry. 2018;75(5):438-446. doi:10.1001/jamapsychiatry.2018.0133
  6. Nash PS. The Case for Banning Cousin Marriage. Oxford Journal of Law and Religion. 2024;13(1): 98–118. doi: 10.1093/ojlr/rwae014
  7. Khayat AM, Alshareef BG, Alharbi SF, AlZahrani MM, Alshangity BA, Tashkandi NF. Consanguineous Marriage and Its Association With Genetic Disorders in Saudi Arabia: A Review. Cureus. 2024;16(2):e53888. doi:10.7759/cureus.53888
  8. Hwang S, Jakob D, Squires M. Health Effects of Cousin Marriage: Evidence From U.S. Genealogical Records. https://ssrn.com/abstract=4632501. Erişim tarihi 8 Mayıs, 2025.
  9. Melado L, Lawrenz B, Nogueira D, et al. Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples. Sci Rep. 2023;13(1):8857. doi:10.1038/s41598-023-36014-6
  10. Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3(65):65ra4. doi:10.1126/scitranslmed.3001756
  11. Fridman H, Yntema HG, Mägi R, et al. The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. Am J Hum Genet. 2021;108(4):608-619. doi:10.1016/j.ajhg.2021.03.004
  12. Monies D, Abouelhoda M, Assoum M, et al. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. Am J Hum Genet. 2019;104(6):1182-1201. doi:10.1016/j.ajhg.2019.04.011
  13. Aamer W, Al-Maraghi A, Syed N, et al. Burden of Mendelian disorders in a large Middle Eastern biobank. Genome Med. 2024;16(1):46. doi:10.1186/s13073-024-01307-6
  14. Temaj G, Nuhii N, Sayer JA. The impact of consanguinity on human health and disease with an emphasis on rare diseases. J. Rare Dis. 2022;1(2). doi:10.1007/s44162-022-00004-5
  15. Jain VK, Nalini P, Chandra R, Srinivasan S. Congenital malformations, reproductive wastage and consanguineous mating. Aust N Z J Obstet Gynaecol. 1993;33(1):33-36. doi:10.1111/j.1479-828x.1993.tb02048.x
  16. S. Amudha, N. Aruna, S. Rajangam. Consanguinity and chromosomal abnormality. Indian J. Hum. Genet. 2005;11(2): 108-110. doi:10.4103/0971-6866.16812
  17. Temtamy S, Aglan M. Consanguinity and genetic disorders in Egypt. Middle East J Med Genet 2012;1(1):12–7. doi:10.1097/01.MXE.0000407744.14663.d8
  18. Ben-Omran T, Al Ghanim K, Yavarna T, et al. Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar. Mol Genet Genomic Med. 2020;8(1):e1051. doi:10.1002/mgg3.1051
  19. Bener A, Mohammad R. Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population. Egypt. J. Med. Hum. Genet. 2017;18(4), 315–320. doi:10.1016/j.ejmhg.2017.01.002
  20. Chehab G, Chedid P, Saliba Z, Bouvagnet P. Congenital cardiac disease and inbreeding: specific defects escape higher risk due to parental consanguinity. Cardiol Young. 2007;17(4):414-422. doi:10.1017/S1047951107000704
  21. Becker SM, Al Halees Z, Molina C, Paterson RM. Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet. 2001;99(1):8-13. doi:10.1002/1096-8628(20010215)99:1 3.0.co;2-u
  22. Goundali KE, Bouab C, Rifqi L, Chebabe M, Hilali A. Consanguineous marriages and their effects on non-communicable diseases in the Moroccan population: a cross-sectional study. Pan Afr Med J. 2022;41:221. doi:10.11604/pamj.2022.41.221.31273
  23. Rudan I, Rudan D, Campbell H, et al. Inbreeding and risk of late onset complex disease. J Med Genet. 2003;40(12):925-932. doi:10.1136/jmg.40.12.925
  24. Bhasin P, Kapoor S. Impact of consanguinity on cardio-metabolic health and other diseases: findings from an Afro-Indian tribal community. J Community Genet. 2015;6(2):129-135. doi:10.1007/s12687-014-0207-z
  25. Kundu S, Jana A. Consanguineous marriage and associated diseases among their children and grandchildren in India: evidence from large-scale data. J Biosoc Sci. 2024;56(4):796-808. doi:10.1017/S0021932024000178
  26. Anwar S, Taslem Mourosi J, Arafat Y, Hosen MJ. Genetic and reproductive consequences of consanguineous marriage in Bangladesh. PLoS One. 2020;15(11):e0241610. doi:10.1371/journal.pone.0241610
  27. Albanghali MA. Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study. Int J Environ Res Public Health. 2023;20(4):3767. doi:10.3390/ijerph20043767.
  28. Vaheb S, Yazdan Panah M, Afshari-Safavi A, et al. The role of parental consanguinity and familial aggregation in development of multiple sclerosis: a case-control study. Eur J Med Res. 2024;29(1):503. doi:10.1186/s40001-024-02094-x
  29. Salehi Z, Almasi-Hashiani A, Sahraian MA, et al. Epidemiology of familial multiple sclerosis in Iran: a national registry-based study. BMC Neurol. 2022;22(1):76. doi:10.1186/s12883-022-02609-1
  30. Molla A, Alayoubi AM, Jannadi R. First Cousin Marriages and the Risk of Childhood-Onset Vitiligo: Exploring the Genetic Background: A Cross-Sectional Study. Clin Cosmet Investig Dermatol. 2024;17:1471-1479. doi:10.2147/CCID.S470937
  31. Akbarzadeh M, Riahi P, Ramezankhani A, et al. Parental Transmission Plays the Major Role in High Aggregation of Type 2 Diabetes in Iranian Families: Tehran Lipid and Glucose Study. Can J Diabetes. 2022;46(1):60-68. doi:10.1016/j.jcjd.2021.05.009
  32. Abbasi F, Habibi M, Enayati S, et al. A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes. Can J Diabetes. 2018;42(3):272-275. doi:10.1016/j.jcjd.2017.06.009.
  33. Almazroua AM, Alsughayer L, Ababtain R, Al-Shawi Y, Hagr AA. The association between consanguineous marriage and offspring with congenital hearing loss. Ann Saudi Med. 2020;40(6):456-461. doi:10.5144/0256-4947.2020.456
  34. Liede A, Malik IA, Aziz Z, Rios Pd Pde L, Kwan E, Narod SA. Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am J Hum Genet. 2002;71(3):595-606. doi:10.1086/342506.
  35. Subhash RLP, Anupama D, Jayarama SK, Meenakshi B, Harshal KL, Khizer HA. Consanguinity and chromosomal abnormalities. Int J Anat Res. 2017;5(41):4531–4537. doi:10.16965/ijar.2017.393
  36. Trabelsi M, Chelly I, Maazoul F, et al. Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy. Eur J Med Genet. 2013;56(1):13-19. doi:10.1016/j.ejmg.2012.10.012
  37. Dahbi N, Elkhair A, Cheffi K, et al. Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): A cross-sectional survey. Egypt. J. Med. Hum. Genet. 2024;25(27). doi:10.1186/s43042-024-00490-w
  38. Hu H, Kahrizi K, Musante L, et al. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019;24(7):1027-1039. doi:10.1038/s41380-017-0012-2
  39. Napolioni V, Scelsi MA, Khan RR, Altmann A, Greicius MD. Recent Consanguinity and Outbred Autozygosity Are Associated With Increased Risk of Late-Onset Alzheimer's Disease. Front Genet. 2021;11:629373. doi:10.3389/fgene.2020.629373
  40. Mansour H, Klei L, Wood J, et al. Consanguinity associated with increased risk for bipolar I disorder in Egypt. Am J Med Genet B Neuropsychiatr Genet. 2009;150B(6):879-885. doi:10.1002/ajmg.b.30913
  41. Jaber LA, Halpern GJ. Consanguinity – Its Impact, Consequences and Management. Sharjah, United Arab Emirates: Bentham Science Publishers; 2014:172-174
  42. Bener A, El Ayoubi HR, Chouchane L, et al. Impact of consanguinity on cancer in a highly endogamous population. Asian Pac J Cancer Prev. 2009;10(1):35-40
  43. Denic S, Frampton C, Nicholls MG. Risk of cancer in an inbred population. Cancer Detect Prev. 2007;31(4):263-269. doi:10.1016/j.cdp.2007.07.006
  44. Bittles AH, Grant JC, Sullivan SG, Hussain R. Does inbreeding lead to decreased human fertility?. Ann Hum Biol. 2002;29(2):111-130. doi:10.1080/03014460110075657
  45. Bennett RL, Malleda NR, Byers PH, Steiner RD, Barr KM. Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision. J Genet Couns. 2021;30(5):1354-1357. doi:10.1002/jgc4.1477
  46. Hamamy H. Consanguineous marriages: Preconception consultation in primary health care settings. J Community Genet. 2012;3(3):185-192. doi:10.1007/s12687-011-0072-y
  47. Al Arrayed S. Campaign to control genetic blood diseases in Bahrain. Community Genet. 2005;8(1):52-55. doi:10.1159/000083340
  48. Zlotogora J. What is the birth defect risk associated with consanguineous marriages?. Am J Med Genet. 2002;109(1):70-71. doi:10.1002/ajmg.10311
  49. Bittles AH, Black ML. Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A. 2010;107(Suppl 1):1779-1786. doi:10.1073/pnas.0906079106
  50. Bennett RL, Motulsky AG, Bittles A, et al. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2002;11(2):97-119. doi:10.1023/A:1014593404915