Associations of MCM8 rs3761873 and rs16991617 variants with abnormal uterine bleeding induced by copper intrauterine device.
Cu-IUD
MCM8
abnormal uterine bleeding
Journal
The journal of obstetrics and gynaecology research
ISSN: 1447-0756
Titre abrégé: J Obstet Gynaecol Res
Pays: Australia
ID NLM: 9612761
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
revised:
03
11
2021
received:
21
07
2021
accepted:
07
11
2021
pubmed:
11
12
2021
medline:
4
2
2022
entrez:
10
12
2021
Statut:
ppublish
Résumé
Intrauterine device (IUD) is a commonly used contraceptive method worldwide. Abnormal uterine bleeding (AUB) is one of the most common side effects of Cu-IUDs. Since AUB varies among Cu-IUD users, changes in the bleeding-related genetic factors may contribute to AUB. This study aimed to determine the genetic risk factors of AUB after Cu-IUD insertion. We conducted a case-control study on women who experienced AUB after Cu-IUD insertion (case:control = 62:59). Six candidate variants were genotyped using the Sequenom MassARRAY. Genotype and allele frequencies were analyzed using SHEsisPlus. We performed Pearson's Chi-squared test to analyze categorical data, and ESEfinder to predict the impact on splicing regulation. MCM8 coding sequence variants: rs3761873-A>C was in Exon 7 and rs16991617 A>G was in Exon 12 of all 19 exons, both of which were significantly different between cases and controls (p MCM8 rs376187 and rs16991617 were associated with AUB in Cu-IUDs users. MCM8 may play a role in AUB by regulating functions of reproductive organs and primary ovarian insufficiency. Our findings may improve the understanding of the genetic basis of AUB caused by Cu-IUDs.
Substances chimiques
Levonorgestrel
5W7SIA7YZW
MCM8 protein, human
EC 3.6.4.12
Minichromosome Maintenance Proteins
EC 3.6.4.12
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
440-447Subventions
Organisme : NHC Key Laboratory of Reproduction Regulation
ID : CX2017-03
Informations de copyright
© 2021 Japan Society of Obstetrics and Gynecology.
Références
Buhling KJ, Zite NB, Lotke P, Black K. Worldwide use of intrauterine contraception: a review. Contraception. 2014;89(3):162-73.
Smith-McCune K, Thomas R, Averbach S, Seidman D, Takeda M, Houshdaran S, et al. Differential effects of the hormonal and copper intrauterine device on the endometrial transcriptome. Sci Rep. 2020;10(1):6888.
Li L, Li J, Li N, Zhang Y, Feng X. Analysis of the reason of abnormal uterine bleeding induced by copper corrosion of IUD Cu. Clin Exp Obstet Gynecol. 2016;43(6):883-6.
Munro MG, Critchley HO, Broder MS, Fraser IS. FIGO classification system (PALM-COEIN) for causes of abnormal uterine bleeding in nongravid women of reproductive age. Int J Gynaecol Obstet. 2011;113(1):3-13.
Marnach ML, Laughlin-Tommaso SK. Evaluation and management of abnormal uterine bleeding. Mayo Clin Proc. 2019;94(2):326-35.
El-Ghonemy MS, El Sharawy S, Fahmi MW, El-Ashwah S, Denewer M, El-Baiomy MA. Thrombophilic risk of factor V Leiden, Prothrombin G20210A, MTHFR, and Calreticulin mutations in essential thrombocythemia egyptian patients. Adv Hematol. 2020;2020:7695129.
Gogu AE, Jianu DC, Dumitrascu V, Ples H, Stroe AZ, Docu Axelerad D, et al. MTHFR gene polymorphisms and cardiovascular risk factors, clinical-imagistic features and outcome in cerebral venous sinus thrombosis. Brain Sci. 2020;11(1):23.
Paradkar MU, Padate B, Shah SAV, Vora H, Ashavaid TF. Association of genetic variants with hyperhomocysteinemia in Indian patients with thrombosis. Ind J Clin Biochem. 2020;35(4):465-73.
Federici EH, Al-Mondhiry H. High risk of thrombosis recurrence in patients with homozygous and compound heterozygous factor V R506Q (factor V Leiden) and prothrombin G20210A. Thromb Res. 2019;182:75-8.
Limperger V, Kenet G, Kiesau B, Köther M, Schmeiser M, Langer F, et al. Role of prothrombin 19911 A>G polymorphism, blood group and male gender in patients with venous thromboembolism: results of a German cohort study. J Thromb Thrombolysis. 2020;51:494-501.
Sejrup JK, Morelli VM, Løchen ML, Njølstad I, Mathiesen EB, Wilsgaard T, et al. Myocardial infarction, prothrombotic genotypes, and venous thrombosis risk: the Tromsø study. Res Pract Thromb Haemost. 2020;4(2):247-54.
Chen CT, Fernández-Rhodes L, Brzyski RG, Carlson CS, Chen Z, Heiss G, et al. Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe study. Hum Mol Genet. 2012;21(6):1419-32.
Bouali N, Francou B, Bouligand J, Imanci D, Dimassi S, Tosca L, et al. New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family. Fertil Steril. 2017;108(4):694-702.
Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, et al. MCM8 and MCM9 nucleotide variants in women with primary ovarian insufficiency. J Clin Endocrinol Metab. 2017;102(2):576-82.
Dou X, Guo T, Li G, Zhou L, Qin Y, Chen ZJ. Minichromosome maintenance complex component 8 mutations cause primary ovarian insufficiency. Fertil Steril. 2016;106(6):1485-9.e2.
AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015;125(1):258-62.
Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005;15(2):97-8.
Li Z, Zhang Z, He Z, Tang W, Li T, Zeng Z, et al. A partition-ligation-combination-subdivision EM algorithm for haplotype inference with multiallelic markers: update of the SHEsis (http://analysis.bio-x.cn). Cell Res. 2009;19(4):519-23.
Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet. 2006;15(16):2490-508.
Luca C, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 2003;31(13):3568-71.
Long JC, Caceres JF. The SR protein family of splicing factors: master regulators of gene expression. Biochem J. 2009;417(1):15-27.
Benetti-Pinto CL, Rosa ESA, Yela DA, Soares Júnior JM. Abnormal uterine bleeding. Rev Bras Ginecol Obstet. 2017;39(7):358-68.
Nishimura K, Ishiai M, Horikawa K, Fukagawa T, Takata M, Takisawa H, et al. Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks. Mol Cell. 2012;47(4):511-22.
Liu K, Kang M, Liao X, Wang R. Genome-wide investigation of the clinical significance and prospective molecular mechanism of minichromosome maintenance protein family genes in patients with lung adenocarcinoma. PLoS One. 2019;14(7):e0219467.
Cai L, Zhao K, Yuan X. Expression of minichromosome maintenance 8 in chronic myelogenous leukemia. Int J Clin Exp Pathol. 2015;8(11):14180-8.
Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, et al. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J Med Genet. 2015;52(6):391-9.