This is a Letter to the Editor and does not have an abstract

Moorchung, Nikhil

Mukhopadhyay, Indrani

Mutreja, Deepti

Reddy, Ravindranath

English

Crossref

Prothrombin gene mutations do not cause recurrent pregnancy loss in the Indian population

KnE Publishing Platform

International Journal of Reproductive BioMedicineVolume 17, Issue no. 5, https://doi.org/10.18502/ijrm.v17i5.4605Production and Hosting by Knowledge ELetter to EditorProthrombin genemutations do not causerecurrent pregnancy loss in the IndianpopulationDear Editor,As defined by the American Society of Reproductive Medicine, recurrent miscarriageor recurrent pregnancy loss is defined as two or more failed pregnancies. (1). Thereare various causes for RPL and yet, in about 40% of cases, no cause can be identifiedafter extensive investigation. It is believed that inherited and acquired thrombophilia likeProtein C/S deficiency and genetic mutations in the Factor V and the Prothrombin genemaybe a cause of RPL (2). There is a significant association between the ProthrombinG2021M mutation (PTG) with RPL which has been shown by numerous other studies (3).The data with respect to PTG G20210A mutations and its association with RPL is scantin Indian population.In this study, we evaluated a total of 56 women in this point prevalence cross-sectionalstudy. The sample size was determined on the basis of the number of women attendingthe antenatal OPD (n-10000), the RPL prevalence in the general population (1%), and theConfidence Interval (5%). The sample size was calculated by the EPI Info software. Thesample size was calculated as 38.A history of RPL was elicited from all pregnant women attending the antenatal clinicat a large tertiary care hospital. The women who gave a history of RPL were furtherinvestigated and an attempt was made to establish the cause for the RPL. The pregnantwomen were then classified based on the inclusion and exclusion criteria and weregrouped into two groups; Group A patients were the patients who conformed to thecriteria for RPL, and group B patients were all pregnant women with a history of at leastone successful pregnancy and with no previous history of a pregnancy loss or any othermedical disorder.The Polymerase Chain Reaction (PCR) followed by Restriction Fragment LengthPolymorphism (RFLP) analysis was used to test for the G20210A mutation. This methodhas been described previously (4). The study was approved by the institutional ethicscommittee and informed consent was taken from all the patients. Data collected in thisstudy was analyzed in Microsoft Excel and Stata v. 13 (Stata Corp, Texas, USA). Thecomparison of the two groups’ means was done using two sample t-test with equalvariances p < 0.05 was considered significant.Of a total of 109 pregnant women who were recruited in the present study, 03 caseswere excluded. PTG mutation was carried out in 38 women in Group A patients and 18Group B patients. None of the group A patients were positive for PTG mutations, whileone of eighteen women in Group B had heterozygous PTG mutation. The differencewas not significant (p-0.24, Odds Ratio-0.1649, Confidence Interval-95%). It is believedthat pregnancy is a physiological hypercoagulable state with an upregulation of FactorVIII and a downregulation of Protein S. The reasons for this hypercoagulable state isprobably to help in the expulsion of the placenta with a minimal loss of blood. The FactorV Leiden mutation and the Prothrombin gene mutation are known to compound thehypercoagulable state.How to cite this article: Reddy R, Mutreja D, Mukhopadhyay I, Moorchung N. “Prothrombin gene mutations do not cause recurrent pregnancy lossin the Indian population,” Int J Reprod BioMed 2019; 17: 375–376. https://doi.org/10.18502/ijrm.v17i5.4605 Page 375Corresponding Author:Nikhil Moorchung;Department of Pathology,Command Hospital Air Force,AGRAM Post, CambridgeLayout, Bangalore 560007,India.Email: nikhilmoorchung@rediffmail.comTel: (+94)82448032Postal Code: 560001Received 19 July 2018Revised 3 November 2018Accepted 12 December 2018Production and Hosting byKnowledge ERavindranath Reddyet al. This article is distributedunder the terms of theCreative CommonsAttribution License, whichpermits unrestricted use andredistribution provided thatthe original author and sourceare credited.Editor-in-Chief:Aflatoonian Abbas M.D.International Journal of Reproductive BioMedicine Reddy et al.PTG20210A mutation is seen in around 2-3% of the Caucasian population with estimated thromboticrisk being very low at 1.5-2.2 (5). Prothrombin mutation is a functional gain mutation occurring on exon 14coding for 3’ translational end of mRNA resulting in increased levels of Prothrombin.Studies evaluating the role of Prothrombin gene mutations in cases of RPL have shown conflictingresults. As reported in an Iranian study, there was no significant difference between the prevalence ofthese mutations between the cases versus the controls. (6). A similar finding was reported by Mierla et alwho did not find an association between the PTG20210A mutations with RPL (7). This is in contrast to aTurkish study which found a significant association between the PTG20210A mutation and RPL (8).The association between the PTG20210A mutation and RPL likely reflects the prevalence of thismutation in the general population. In Indian populations, the prevalence of the PTG20210A mutationhas been evaluated in diseases as diverse as ischemic stroke and hepatic venous outflow tractobstruction, and the reported prevalence of this mutation is low (9). In a study of 432 patients ofvenous thromboembolism from western India, Ghosh et al. did not find a single case where there wasa prothrombin PTG20210A mutation (10).Of the total of 56 cases tested for Prothrombin mutation in the present study, no mutation was detectedin RPL group (0/38), while one case was detected to have a heterozygous Prothrombin mutation in thecontrol group (1/18).We believe that this is the first Indian study which has studied the relationship between the Prothrombingene mutation and RPL. It is likely that the prevalence of the PTG20210A gene mutation is very low in theIndian population. This low prevalence and its virtual absence in cases of RPL indicate that Prothrombingene mutations are very unlikely to be a cause for RPL in the Indian population. It is suggested that anevaluation of the PTG is not required in cases of RPL in the Indian population.Ravindranath Reddy1 M.D., Deepti Mutreja1 M.D., Indrani Mukhopadhyay2 M.D., Nikhil Moorchung1M.D., Ph.D.1Department of Pathology, Command Hospital Air Force, AGRAM Post, Cambridge Layout, Bangalore,India.2Department of Gynaecology and Obstetrics, Command Hospital Air Force, AGRAM Post, CambridgeLayout, Bangalore, India.References[1] Practice Committee of the American Society for Reproductive Medicine. Definitions of infertility and recurrent pregnancy loss.Fertil Steril 2008; 90 (Suppl.): S60.[2] Pritchard AM, Hendrix PW, Paidas MJ. Hereditary thrombophilia and recurrent pregnancy loss. Clin Obstet Gynecol 2016; 59:487–497.[3] Settin A, Alkasem R, Ali E, ElBaz R, Mashaley AM. Factor V Leiden and prothrombin gene mutations in Egyptian cases withunexplained recurrent pregnancy loss. Hematology 2011; 16: 59–63.[4] Moussaoui S, Saussoy P, Ambroise J, Defour JP, Zouitene R, Sifi K, et al. Genetic risk factors of venous thromboembolism inthe east algerian population. Clin Appl Thromb Hemost 2017; 23: 105–115.[5] Chudej J, Plameňová I. Prothrombin gene 20210A mutation in Slovak population. Vnitr Lek 2016; 62: 281–286.[6] Poursadegh Zonouzi A, Chaparzadeh N, Ghorbian S, Sadaghiani MM, Farzadi L, Ghasemzadeh A, et al. The associationbetween thrombophilic gene mutations and recurrent pregnancy loss. J Assist Reprod Genet 2013; 30: 1353–1359.[7] Mierla D, Szmal C, Neagos D, Cretu R, Stoian V, Jardan D. Association of prothrombin (A20210G) and factor V leiden (A506G)with recurrent pregnancy loss. Maedica (Buchar) 2012; 7: 222–226.[8] Isaoglu U, Ulug P, Delibas IB, Yilmaz M, Kumtepe Y, Dogan H, et al. The association between inherited thrombophilia andrecurrent pregnancy loss in Turkish women. Clin Exp Obstet Gynecol 2014; 41: 177–181.[9] Munshi A, Aliya N, Jyothy A, Kaul S, Alladi S, Shafi G. Prothrombin gene G20210A mutation is not a risk factor for ischemicstroke in a South Indian Hyderabadi population. Thromb Res 2009; 124: 245–247.[10] Ghosh K, Shetty S, Madkaikar M, Pawar A, Nair S, Khare A, et al. Venous thromboembolism in young patients from westernIndia: a study. Clin Appl Thromb Hemost 2001; 7: 158–165.Page 376 https://doi.org/10.18502/ijrm.v17i5.4605

https://www.neliti.com/publications/411867/prothrombin-gene-mutations-do-not-cause-recurrent-pregnancy-loss-in-the-indian-p

Prothrombin gene mutations do not cause recurrent pregnancy loss in the Indian population

Abstract

Similar works

Full text

Available Versions

Crossref

KnE Publishing Platform