Maternal Factor V Leiden and Prothrombin Mutations Do Not Seem to Contribute to the Occurrence of Two or More Than Two Consecutive Miscarriages in Caucasian patients

Background We analysed the prevalence of the most common hereditary thrombophilia (hTP) – factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) – and the 677 C>T replacement in the 5,10‐methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of t...

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Veröffentlicht in:American journal of reproductive immunology (1989) 2013-12, Vol.70 (6), p.518-521
Hauptverfasser: Baumann, Kristin, Beuter-Winkler, Petra, Hackethal, Andreas, Strowitzki, Thomas, Toth, Bettina, Bohlmann, Michael K.
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container_end_page 521
container_issue 6
container_start_page 518
container_title American journal of reproductive immunology (1989)
container_volume 70
creator Baumann, Kristin
Beuter-Winkler, Petra
Hackethal, Andreas
Strowitzki, Thomas
Toth, Bettina
Bohlmann, Michael K.
description Background We analysed the prevalence of the most common hereditary thrombophilia (hTP) – factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) – and the 677 C>T replacement in the 5,10‐methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth. Methods A multicenter analysis of three hTP was performed in 641 RM patients identically screened at specialized university centres. Results The study groups consisted of 240 patients with 2 (1) and 401 patients with >2 miscarriages (2) and were compared with 157 controls. There was no significant difference in the prevalence of the hTP between RM patients and controls nor within the two study groups. Subgroup analysis showed that the homozygous MTHFR polymorphism was significantly more prevalent in the study group 2 as compared to study group 1 (13.9 versus 7.9%, P = 0.02). Conclusion In Caucasians, maternal FVL or PT mutations do not seem to contribute to the pathophysiology of RM, irrespective of the number of miscarriages. However, the role of the homozygous MTHFR polymorphism merits further investigation.
doi_str_mv 10.1111/aji.12144
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Methods A multicenter analysis of three hTP was performed in 641 RM patients identically screened at specialized university centres. Results The study groups consisted of 240 patients with 2 (1) and 401 patients with &gt;2 miscarriages (2) and were compared with 157 controls. There was no significant difference in the prevalence of the hTP between RM patients and controls nor within the two study groups. Subgroup analysis showed that the homozygous MTHFR polymorphism was significantly more prevalent in the study group 2 as compared to study group 1 (13.9 versus 7.9%, P = 0.02). Conclusion In Caucasians, maternal FVL or PT mutations do not seem to contribute to the pathophysiology of RM, irrespective of the number of miscarriages. However, the role of the homozygous MTHFR polymorphism merits further investigation.</description><identifier>ISSN: 1046-7408</identifier><identifier>EISSN: 1600-0897</identifier><identifier>DOI: 10.1111/aji.12144</identifier><identifier>PMID: 23795816</identifier><language>eng</language><publisher>Denmark: Blackwell Publishing Ltd</publisher><subject>Abortion, Habitual - enzymology ; Abortion, Habitual - genetics ; Adult ; Cohort Studies ; European Continental Ancestry Group - genetics ; Factor V - genetics ; Factor V Leiden mutation ; Female ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) - genetics ; MTHFR (C677T) polymorphism ; Mutation ; Polymorphism, Genetic - genetics ; prothrombin (G20210A) mutation ; Prothrombin - genetics ; recurrent miscarriage ; Retrospective Studies ; thrombophilia</subject><ispartof>American journal of reproductive immunology (1989), 2013-12, Vol.70 (6), p.518-521</ispartof><rights>2013 John Wiley &amp; Sons Ltd</rights><rights>2013 John Wiley &amp; Sons Ltd.</rights><rights>Copyright © 2013 John Wiley &amp; Sons Ltd</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4244-b737c0883463e4feddb1c3e029d16bea342e3943078272d5c84bd76ed798fa763</citedby><cites>FETCH-LOGICAL-c4244-b737c0883463e4feddb1c3e029d16bea342e3943078272d5c84bd76ed798fa763</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Faji.12144$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Faji.12144$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23795816$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Baumann, Kristin</creatorcontrib><creatorcontrib>Beuter-Winkler, Petra</creatorcontrib><creatorcontrib>Hackethal, Andreas</creatorcontrib><creatorcontrib>Strowitzki, Thomas</creatorcontrib><creatorcontrib>Toth, Bettina</creatorcontrib><creatorcontrib>Bohlmann, Michael K.</creatorcontrib><title>Maternal Factor V Leiden and Prothrombin Mutations Do Not Seem to Contribute to the Occurrence of Two or More Than Two Consecutive Miscarriages in Caucasian patients</title><title>American journal of reproductive immunology (1989)</title><addtitle>Am J Reprod Immunol</addtitle><description>Background We analysed the prevalence of the most common hereditary thrombophilia (hTP) – factor V Leiden (FVL) mutation, prothrombin 20210 G&gt;A substitution (PT) – and the 677 C&gt;T replacement in the 5,10‐methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth. Methods A multicenter analysis of three hTP was performed in 641 RM patients identically screened at specialized university centres. Results The study groups consisted of 240 patients with 2 (1) and 401 patients with &gt;2 miscarriages (2) and were compared with 157 controls. There was no significant difference in the prevalence of the hTP between RM patients and controls nor within the two study groups. Subgroup analysis showed that the homozygous MTHFR polymorphism was significantly more prevalent in the study group 2 as compared to study group 1 (13.9 versus 7.9%, P = 0.02). Conclusion In Caucasians, maternal FVL or PT mutations do not seem to contribute to the pathophysiology of RM, irrespective of the number of miscarriages. However, the role of the homozygous MTHFR polymorphism merits further investigation.</description><subject>Abortion, Habitual - enzymology</subject><subject>Abortion, Habitual - genetics</subject><subject>Adult</subject><subject>Cohort Studies</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Factor V - genetics</subject><subject>Factor V Leiden mutation</subject><subject>Female</subject><subject>Humans</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</subject><subject>MTHFR (C677T) polymorphism</subject><subject>Mutation</subject><subject>Polymorphism, Genetic - genetics</subject><subject>prothrombin (G20210A) mutation</subject><subject>Prothrombin - genetics</subject><subject>recurrent miscarriage</subject><subject>Retrospective Studies</subject><subject>thrombophilia</subject><issn>1046-7408</issn><issn>1600-0897</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkcFu1DAQhiMEoqVw4AWQJS70kNaOHds5lqUtRZstiIVysxxnlvU2iRfbofSBeE-8u20PSEj4Ys_o-_-x5s-ylwQfkXSO9coekYIw9ijbJxzjHMtKPE5vzHguGJZ72bMQVhinPhVPs72CiqqUhO9nv2sdwQ-6Q2faROfRVzQF28KA9NCij97FpXd9YwdUj1FH64aA3jk0cxF9BuhRdGjihuhtM0bYVHEJ6NKY0XsYDCC3QPMbh5Jx7Tyg-VIP20YSBTBjtD8B1TYY7b3V3yGgNGmiR6ODTeQ6TYQhhufZk4XuAry4uw-yL2en88n7fHp5fjE5meaGFYzljaDCYCkp4xTYAtq2IYYCLqqW8AY0ZQXQilEsZCGKtjSSNa3g0IpKLrTg9CB7s_Nde_djhBBVn_4GXacHcGNQhHFJZVFK8R9oWZWcMoIT-vovdOXGzc63lGRFVRUsUYc7yngXgoeFWnvba3-rCFabmFWKWW1jTuyrO8ex6aF9IO9zTcDxDrixHdz-20mdfLi4t8x3Chsi_HpQaH-teFprqa5m5-qK12_lp9lUfaN_AAgbwI0</recordid><startdate>201312</startdate><enddate>201312</enddate><creator>Baumann, Kristin</creator><creator>Beuter-Winkler, Petra</creator><creator>Hackethal, Andreas</creator><creator>Strowitzki, Thomas</creator><creator>Toth, Bettina</creator><creator>Bohlmann, Michael K.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201312</creationdate><title>Maternal Factor V Leiden and Prothrombin Mutations Do Not Seem to Contribute to the Occurrence of Two or More Than Two Consecutive Miscarriages in Caucasian patients</title><author>Baumann, Kristin ; Beuter-Winkler, Petra ; Hackethal, Andreas ; Strowitzki, Thomas ; Toth, Bettina ; Bohlmann, Michael K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4244-b737c0883463e4feddb1c3e029d16bea342e3943078272d5c84bd76ed798fa763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Abortion, Habitual - enzymology</topic><topic>Abortion, Habitual - genetics</topic><topic>Adult</topic><topic>Cohort Studies</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Factor V - genetics</topic><topic>Factor V Leiden mutation</topic><topic>Female</topic><topic>Humans</topic><topic>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</topic><topic>MTHFR (C677T) polymorphism</topic><topic>Mutation</topic><topic>Polymorphism, Genetic - genetics</topic><topic>prothrombin (G20210A) mutation</topic><topic>Prothrombin - genetics</topic><topic>recurrent miscarriage</topic><topic>Retrospective Studies</topic><topic>thrombophilia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Baumann, Kristin</creatorcontrib><creatorcontrib>Beuter-Winkler, Petra</creatorcontrib><creatorcontrib>Hackethal, Andreas</creatorcontrib><creatorcontrib>Strowitzki, Thomas</creatorcontrib><creatorcontrib>Toth, Bettina</creatorcontrib><creatorcontrib>Bohlmann, Michael K.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health &amp; 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Methods A multicenter analysis of three hTP was performed in 641 RM patients identically screened at specialized university centres. Results The study groups consisted of 240 patients with 2 (1) and 401 patients with &gt;2 miscarriages (2) and were compared with 157 controls. There was no significant difference in the prevalence of the hTP between RM patients and controls nor within the two study groups. Subgroup analysis showed that the homozygous MTHFR polymorphism was significantly more prevalent in the study group 2 as compared to study group 1 (13.9 versus 7.9%, P = 0.02). Conclusion In Caucasians, maternal FVL or PT mutations do not seem to contribute to the pathophysiology of RM, irrespective of the number of miscarriages. However, the role of the homozygous MTHFR polymorphism merits further investigation.</abstract><cop>Denmark</cop><pub>Blackwell Publishing Ltd</pub><pmid>23795816</pmid><doi>10.1111/aji.12144</doi><tpages>4</tpages></addata></record>
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ispartof American journal of reproductive immunology (1989), 2013-12, Vol.70 (6), p.518-521
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subjects Abortion, Habitual - enzymology
Abortion, Habitual - genetics
Adult
Cohort Studies
European Continental Ancestry Group - genetics
Factor V - genetics
Factor V Leiden mutation
Female
Humans
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
MTHFR (C677T) polymorphism
Mutation
Polymorphism, Genetic - genetics
prothrombin (G20210A) mutation
Prothrombin - genetics
recurrent miscarriage
Retrospective Studies
thrombophilia
title Maternal Factor V Leiden and Prothrombin Mutations Do Not Seem to Contribute to the Occurrence of Two or More Than Two Consecutive Miscarriages in Caucasian patients
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