Exploring the Link Between Chromosomal Polymorphisms and Reproductive Abnormalities

Overview

Journal Reprod Health

Publisher Biomed Central

Specialty Reproductive Medicine

Date 2024 Sep 5

PMID 39237988

Authors

Haiyan Pang

Tong Zhang

Xin Yi

Xiaojing Cheng

Guiling Wang

Affiliations

Soon will be listed here.

Abstract

Objective: This work aimed to investigate the potential correlation between chromosomal polymorphisms and various reproductive abnormalities.

Methods: We examined 21,916 patients affected by infertility who sought care at the Department of Reproductive Medicine, Affiliated Hospital of Shandong Second Medical University between January 2018 and December 2022. A total of 2227 individuals identified as chromosomal polymorphism carriers constituted the polymorphism group, and 2245 individuals with normal chromosome karyotypes were randomly selected to form a control group. Clinical manifestations, histories of spontaneous miscarriage, abnormal reproductive developments, fetal abnormalities, and male sperm quality anomalies were statistically compared between these two groups.

Results: Of the 21,916 patients analyzed, 2227 displayed chromosomal polymorphism, representing a 10.16% detection rate. Amongst the male patients, 1622 out of 10,827 exhibited polymorphisms (14.98%), whereas 605 out of 11,089 females showed polymorphisms (5.46%). Female carriers in the polymorphism group, showed statistically significant increased rates of spontaneous abortion (29.75% vs. 18.54%), fetal anomalies (1.32% vs. 0.81%), and uterine abnormalities compared with the control group (1.32% vs. 0.81%). Male carriers in the polymorphism group had higher rates of spontaneous abortion in partners (22.87% vs. 10.37%), fetal anomalies (1.97% vs. 0.25%), compromised sperm quality (41.74% vs. 7.18%), testicular underdevelopment (2.28% vs. 0.92%), and hypogonadotropic hypogonadism (0.62% vs. 0.37%) compared with the control group.

Conclusion: Chromosomal polymorphisms may have a certain negative effect on reproductive irregularities, including spontaneous abortions, fetal anomalies, and reduced sperm quality in males. Their clinical effects deserve further investigation.

References

Cooper T, Noonan E, von Eckardstein S, Auger J, Baker H, Behre H . World Health Organization reference values for human semen characteristics. Hum Reprod Update. 2009; 16(3):231-45. DOI: 10.1093/humupd/dmp048. View

Liang S, Yang J, Wu H, Teng X, Duan T . Effects of chromosome 9 inversion on IVF/ICSI: A 7-year retrospective cohort study. Mol Genet Genomic Med. 2019; 7(9):e856. PMC: 6732300. DOI: 10.1002/mgg3.856. View

Repalle D, Saritha K, Bhandari S . Sperm DNA fragmentation negatively influences the cumulative live birth rate in the intracytoplasmic sperm injection cycles of couples with unexplained infertility. Clin Exp Reprod Med. 2022; 49(3):185-195. PMC: 9468691. DOI: 10.5653/cerm.2021.05169. View

Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali-Franchi P, Tiboni G . Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod. 2004; 20(2):437-42. DOI: 10.1093/humrep/deh626. View

Mottola F, Santonastaso M, Ronga V, Finelli R, Rocco L . Polymorphic Rearrangements of Human Chromosome 9 and Male Infertility: New Evidence and Impact on Spermatogenesis. Biomolecules. 2023; 13(5). PMC: 10216066. DOI: 10.3390/biom13050729. View

Cavalcante M, Sampaio O, Camara F, Barini R . ESHRE guideline update 2022: New perspectives in the management of couples with recurrent pregnancy loss. Am J Reprod Immunol. 2023; 90(2):e13739. DOI: 10.1111/aji.13739. View

Abbaspour S, Isazadeh A, Heidari M, Heidari M, Hajazimian S, Soleyman-Nejad M . Prevalence of Chromosomal Abnormalities in Iranian Patients with Infertility. Arch Iran Med. 2023; 26(2):110-116. PMC: 10685900. DOI: 10.34172/aim.2023.17. View

Mateu-Brull E, Rodrigo L, Peinado V, Mercader A, Campos-Galindo I, Bronet F . Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR). J Assist Reprod Genet. 2019; 36(12):2547-2555. PMC: 6911137. DOI: 10.1007/s10815-019-01593-9. View

Fu M, Chen M, Guo N, Lin M, Li Y, Huang H . Molecular genetic analysis of 1,980 cases of male infertility. Exp Ther Med. 2023; 26(1):345. PMC: 10294593. DOI: 10.3892/etm.2023.12044. View

10.

Ou Z, Yin M, Chen Z, Sun L . Meta-analysis of the association between chromosomal polymorphisms and outcomes of embryo transfer following in vitro fertilization and/or intracytoplasmic sperm injection. Int J Gynaecol Obstet. 2018; 144(2):135-142. DOI: 10.1002/ijgo.12702. View

11.

Codina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher M, Arango O . Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod. 2006; 21(6):1490-7. DOI: 10.1093/humrep/del028. View

12.

Jeong S, Kim B, Yu J . De novo pericentric inversion of chromosome 9 in congenital anomaly. Yonsei Med J. 2010; 51(5):775-80. PMC: 2908878. DOI: 10.3349/ymj.2010.51.5.775. View

13.

Zickler D, Kleckner N . Recombination, Pairing, and Synapsis of Homologs during Meiosis. Cold Spring Harb Perspect Biol. 2015; 7(6). PMC: 4448610. DOI: 10.1101/cshperspect.a016626. View

14.

Ding H, Duan H, Zhu X, Liu W, Gu L, Li H . [Analysis of genetic etiology and related factors in 1 065 women with spontaneous abortions]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023; 40(4):446-451. DOI: 10.3760/cma.j.cn511374-20220422-00272. View

15.

Feng X, Liu J, Wang Y, Fu J, Qin Q, Cao Y . Acrocentric Chromosome Polymorphic Variants on Chinese Female Have Possible Association with Unexplained Recurrent Pregnancy Loss. Reprod Sci. 2020; 28(2):575-584. DOI: 10.1007/s43032-020-00332-1. View

16.

Sismani C, Rapti S, Iliopoulou P, Spring A, Neroutsou R, Lagou M . Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population. J Hum Genet. 2020; 65(9):783-795. DOI: 10.1038/s10038-020-0769-z. View

17.

Karaca Y, Pariltay E, Mardan L, Karaca E, Durmaz A, Durmaz B . Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure. Reprod Biol. 2020; 20(1):42-47. DOI: 10.1016/j.repbio.2019.12.006. View

18.

Agarwal A, Majzoub A, Baskaran S, Panner Selvam M, Cho C, Henkel R . Sperm DNA Fragmentation: A New Guideline for Clinicians. World J Mens Health. 2020; 38(4):412-471. PMC: 7502318. DOI: 10.5534/wjmh.200128. View

19.

Madon P, Athalye A, Parikh F . Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online. 2006; 11(6):726-32. DOI: 10.1016/s1472-6483(10)61691-4. View

20.

Cheng R, Ma Y, Nie Y, Qiao X, Yang Z, Zeng R . Chromosomal polymorphisms are associated with female infertility and adverse reproductive outcomes after infertility treatment: a 7-year retrospective study. Reprod Biomed Online. 2017; 35(1):72-80. DOI: 10.1016/j.rbmo.2017.03.022. View