Please wait a minute...
Shopping Cart Email List Chinese
Advanced Search Fig/Tab
Frontiers in Biology

ISSN 1674-7984

ISSN 1674-7992(Online)

CN 11-5892/Q

Featured Articles  |  Most Downloaded  |  Most Reading
Online Submission Subscribe to Our RSS Content Feed
Front. Biol.    2016, Vol. 11 Issue (6) : 471-475    https://doi.org/10.1007/s11515-016-1419-x
RESEARCH ARTICLE
Factor XIII Val34Leu polymorphism and risk of recurrent pregnancy loss in Iranian population: a case control study
Seyed Mehdi Sajjadi1,Abbas Khosravi2,Jalil Pakravesh3,Zahra-soheila Soheili4,Shahram Samiei5,Saeed Mohammadi6,Mohammad Ali Jalali far5,7()
1. Cellular and Molecular Research Center of Birjand University of Medical Sciences, Biriand, Iran
2. Department of Hematology, Tehran University of Allied Medical Sciences, Tehran, Iran
3. Department of Obstetrics and Gynecology, Aban General Hospital, Tehran, Iran
4. Cellular and Molecular Biology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
5. Blood Transfusion Research center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
6. Hematology Oncology and Stem Cell Translantation Research Center, Tehran University of Medical Sciences, Tehran, Iran
7. Health research institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
 Download: PDF(131 KB)   HTML
 Export: BibTeX | EndNote | Reference Manager | ProCite | RefWorks
Abstract

BACKGROUND: Recurrent pregnancy loss (RPL) is a heterogeneous condition and thrombophilias have been considered as a probable cause.

OBJECTIVE: The aim of this study was to investigate the prevalence of the coagulation factor XIII Val34Leu polymorphism among women with unexplained RPL.

METHODS: A total of 140 women with a history of unexplained RPL and 100 age-matched healthy fertile women were recruited. The presence of FXIII Val34Leu polymorphism among the cases and controls was investigated using PCR-RFLP method.

RESULTS: Genotype analyses of the subjects revealed that the patients had a significantly higher prevalence of V/L and L/L than the controls (P<0.05): 33.5% vs. 15%, and 9.2% vs. 2%, respectively.

CONCLUSION: These results indicate a significant association between FXIII Val34Leu polymorphism and unexplained RPL in the Iranian patient.
Keywords factor XIII      Iranian population      recurrent pregnancy loss      Val34Leu polymorphism     
Corresponding Author(s): Mohammad Ali Jalali far   
Online First Date: 04 November 2016    Issue Date: 26 December 2016
 Cite this article:   
Seyed Mehdi Sajjadi,Abbas Khosravi,Jalil Pakravesh, et al. Factor XIII Val34Leu polymorphism and risk of recurrent pregnancy loss in Iranian population: a case control study[J]. Front. Biol., 2016, 11(6): 471-475.
 URL:  
https://academic.hep.com.cn/fib/EN/10.1007/s11515-016-1419-x
https://academic.hep.com.cn/fib/EN/Y2016/V11/I6/471
Fig.1  Molecular genetic analysis of FXIII Val34Leu polymorphism. Lane 1: Complete digestion (94 bp) in the wild-type (V/V) sample. Lane 2: Both the intact product (114 bp) and the digested fragment ( 94 bp) in the heterozygous (V/L) type. Lane 3: No restriction site for CfoI in the homozygous (L/L) type (114 bp). Lane 4: 50 bp size marker.
Variables Cases (n = 140) Controls (n = 100) OR 95% confidence interval of an odds ratio p value
Age 27.8±3.1 28.3±2.17 - - 0.28
Smokers 0 0 - - -
FXIII Val34Leu polymorphism No. (percent)
Wild-type 80(57.1%) 83 (83%) 0.27 0.14-0.50 p<0.001
Heterozygous 47(33.6%) 15(15%) 2.86 1.49-5.49 p<0.001
Homozygous 13(9.3%) 2(2%) 5.01 1.07-20.21 p = 0.04
Val allele frequency 73.9% 90.5% 0.3 0.14-0.65 p = 0.02
Leu allele frequency 26.1% 9.5% 3.23 1.52-6.86 p = 0.02
Tab.1  FXIII Val34Leu polymorphism genotypes and allelic frequencies of patients and controls
1 Aarabi M, Memariani T, Arefi S, Aarabi M, Hantoosh Zadeh S, Akhondi M A, Modarressi M H (2011). Polymorphisms of plasminogen activator inhibitor-1, angiotensin converting enzyme and coagulation factor XIII genes in patients with recurrent spontaneous abortion. J Matern Fetal Neonatal Med, 24(3): 545–548
https://doi.org/10.3109/14767058.2010.511331 pmid: 20822334
2 Ariëns R A, Philippou H, Nagaswami C, Weisel J W, Lane D A, Grant P J (2000). The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. Blood, 96(3): 988–995
pmid: 10910914
3 Bagheri M, Rad I A, Omrani M D, Nanbaksh F (2011). The Val34Leu genetic variation in the A subunit of coagulation factor XIII in recurrent spontaneous abortion. Syst Biol Reprod Med, 57(5): 261–264
https://doi.org/10.3109/19396368.2011.576308 pmid: 21548851
4 Bagoly Z, Koncz Z, Hársfalvi J, Muszbek L (2012). Factor XIII, clot structure, thrombosis. Thromb Res, 129(3): 382–387
https://doi.org/10.1016/j.thromres.2011.11.040 pmid: 22197181
5 Balogh I, Szôke G, Kárpáti L, Wartiovaara U, Katona E, Komáromi I, Haramura G, Pfliegler G, Mikkola H, Muszbek L (2000). Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia. Blood, 96(7): 2479–2486
pmid: 11001900
6 Barbosa H C, Carvalho E C, Barini R, Siqueira L H, Costa D S, Annichino-Bizzacchi J M (2004). Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups and in patients with recurrent miscarriages. Fertil Steril, 82(5): 1455–1457
https://doi.org/10.1016/j.fertnstert.2004.04.052 pmid: 15533380
7 Brenner B (2002). Thrombophilia and pregnancy loss. Thromb Res, 108(4): 197–202
https://doi.org/10.1016/S0049-3848(02)00390-0 pmid: 12617981
8 Calderwood C J, Thanoon O I (2009). Thromboembolism and thrombophilia in pregnancy. Obstetrics, Gynaecol Reprod Med, 19(12): 339–343
https://doi.org/10.1016/j.ogrm.2009.10.001
9 Catto A J, Kohler H P, Coore J, Mansfield M W, Stickland M H, Grant P J (1999). Association of a common polymorphism in the factor XIII gene with venous thrombosis. Blood, 93(3): 906–908
pmid: 9920839
10 Coulam C B, Jeyendran R S, Fishel L A, Roussev R (2006). Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriage. Am J Reprod Immunol, 55(5): 360–368
https://doi.org/10.1111/j.1600-0897.2006.00376.x pmid: 16635210
11 de Jong P G, Goddijn M, Middeldorp S (2011). Testing for inherited thrombophilia in recurrent miscarriage. Semin Reprod Med, 29(6): 540–547
https://doi.org/10.1055/s-0031-1293207 pmid: 22161466
12 de Lange M, Andrew T, Snieder H, Ge D, Futers T S, Standeven K, Spector T D, Grant P J, Ariëns R A (2006). Joint linkage and association of six single-nucleotide polymorphisms in the factor XIII-A subunit gene point to V34L as the main functional locus. Arterioscler Thromb Vasc Biol, 26(8): 1914–1919
https://doi.org/10.1161/01.ATV.0000231538.60223.92 pmid: 16763156
13 Diz-Kucukkaya R, Hancer V S, Inanc M, Nalcaci M, Pekcelen Y (2004). Factor XIII Val34Leu polymorphism does not contribute to the prevention of thrombotic complications in patients with antiphospholipid syndrome. Lupus, 13(1): 32–35
https://doi.org/10.1191/0961203304lu479oa pmid: 14870915
14 Dossenbach-Glaninger A, van Trotsenburg M, Dossenbach M, Oberkanins C, Moritz A, Krugluger W, Huber J, Hopmeier P (2003). Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and early pregnancy loss. Clin Chem, 49(7): 1081–1086
https://doi.org/10.1373/49.7.1081 pmid: 12816904
15 Elbaz A, Poirier O, Canaple S, Chédru F, Cambien F, Amarenco P (2000). The association between the Val34Leu polymorphism in the factor XIII gene and brain infarction. Blood, 95(2): 586–591
pmid: 10627467
16 Finan R R, Tamim H, Ameen G, Sharida H E, Rashid M, Almawi W Y (2002). Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population. Am J Hematol, 71(4): 300–305
https://doi.org/10.1002/ajh.10223 pmid: 12447960
17 Francis C W (2002). Factor XIII polymorphisms and venous thromboembolism. Arch Pathol Lab Med, 126(11): 1391–1393
pmid: 12421147
18 Franco R F, Reitsma P H, Lourenço D, Maffei F H, Morelli V, Tavella M H, Araújo A G, Piccinato C E, Zago M A (1999). Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. Thromb Haemost, 81(5): 676–679
pmid: 10365735
19 Goodman C S, Coulam C B, Jeyendran R S, Acosta V A, Roussev R (2006). Which thrombophilic gene mutations are risk factors for recurrent pregnancy loss? Am J Reprod Immunol, 56(4): 230–236
https://doi.org/10.1111/j.1600-0897.2006.00419.x pmid: 16938111
20 Hancer V S, Diz-Kucukkaya R, Bilge A K, Ozben B, Oncul A, Ergen G, Nalcaci M (2006). The association between factor XIII Val34Leu polymorphism and early myocardial infarction. Circ J, 70(3): 239–242
https://doi.org/10.1253/circj.70.239 pmid: 16501286
21 Hayano Y, Imai N, Karasawa T (1982) .Studies on the physiological changes of blood coagulation factor XIII during pregnancy and their significance (author's transl). Nihon Sanka Fujinka Gakkai Zasshi, 34(4): 469–477
22 Jeddi-Tehrani M, Torabi R, Mohammadzadeh A, Arefi S, Keramatipour M, Zeraati H, Zarnani A H, Akhondi M M, Mahmoudian J, Mahmoudi A R, Zarei S (2010). Investigating association of three polymorphisms of coagulation factor XIII and recurrent pregnancy loss. Am J Reprod Immunol, 64(3): 212–217
https://doi.org/10.1111/j.1600-0897.2010.00838.x pmid: 20384622
23 Kangsadalampai S, Board P G (1998). The Val34Leu polymorphism in the A subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity. Blood, 92(8): 2766–2770
pmid: 9763561
24 Khalid A S, Joyce C, O’Donoghue K (2013). Prevalence of subclinical and undiagnosed overt hypothyroidism in a pregnancy loss clinic. Ir Med J, 106(4): 107–110
pmid: 23691843
25 Kovalevsky G, Gracia C R, Berlin J A, Sammel M D, Barnhart K T (2004). Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis. Arch Intern Med, 164(5): 558–563
https://doi.org/10.1001/archinte.164.5.558 pmid: 15006834
26 López Ramírez Y, Vivenes M, Miller A, Pulido A, López Mora J, Arocha-Piñango C L, Marchi R (2006). Prevalence of the coagulation factor XIII polymorphism Val34Leu in women with recurrent miscarriage. Clin Chim Acta, 374(1-2): 69–74
https://doi.org/10.1016/j.cca.2006.05.032 pmid: 16844105
27 Madjunkova S, Volk M, Peterlin B, Plaseska-Karanfilska D (2012). Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method. Genet Test Mol Biomarkers, 16(4): 259–264
https://doi.org/10.1089/gtmb.2011.0173 pmid: 22023244
28 McCormack L J, Kain K, Catto A J, Kohler H P, Stickland M H, Grant P J (1998). Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost, 80(3): 523–524
pmid: 9759641
29 Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläinen E, Peltonen L, Palotie A (1994). Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood, 84(2): 517–525
pmid: 8025280
30 Muszbek L, Bagoly Z, Bereczky Z, Katona E ( 2008). The involvement of blood coagulation factor XIII in fibrinolysis and thrombosis. Cardiovasc Hematol Agents Med Chem, 6(3):190–205
31 Nelen W L, Blom H J, Steegers E A, den Heijer M, Eskes T K (2000). Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertil Steril, 74(6): 1196–1199
https://doi.org/10.1016/S0015-0282(00)01595-8 pmid: 11119750
32 Ozdemir O, Yenicesu G I, Silan F, Köksal B, Atik S, Ozen F, Göl M, Cetin A (2012). Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations. Genet Test Mol Biomarkers, 16(4): 279–286
https://doi.org/10.1089/gtmb.2011.0191 pmid: 22047507
33 Poursadegh Zonouzi A, Chaparzadeh N, Ghorbian S, Sadaghiani M M, Farzadi L, Ghasemzadeh A, Kafshdooz T, Sakhinia M, Sakhinia E (2013). The association between thrombophilic gene mutations and recurrent pregnancy loss. J Assist Reprod Genet, 30(10): 1353–1359
https://doi.org/10.1007/s10815-013-0071-5 pmid: 23989998
34 Rallidis L S, Politou M, Komporozos C, Panagiotakos D B, Belessi C I, Travlou A, Lekakis J, Kremastinos D T (2008). Factor XIII Val34Leu polymorphism and the risk of myocardial infarction under the age of 36 years. Thromb Haemost, 99(6): 1085–1089
pmid: 18521512
35 Regan L, Rai R (2002). Thrombophilia and pregnancy loss. J Reprod Immunol, 55(1-2): 163–180
https://doi.org/10.1016/S0165-0378(01)00144-9 pmid: 12062831
36 Sajadi S, Samiei S, Kheirandish M, Jalaifar A(2008). The association of FXIII Val34Leu polymorphism with thrombotic events in patients referring to Iranian Blood Transfusion Organization. Sci J Iran Blood Transfus Organ, 4 (4): 247–252
37 Suzuki K, Henke J, Iwata M, Henke L, Tsuji H, Fukunaga T, Ishimoto G, Szekelyi M, Ito S (1996). Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene. Hum Genet, 98(4): 393–395
https://doi.org/10.1007/s004390050227 pmid: 8792810
38 Yioti G G, Panagiotou O A, Vartholomatos G A, Kolaitis N I, Pappa C N, Evangelou E, Stefaniotou M I (2013). Genetic polymorphisms associated with retinal vein occlusion: a Greek case-control study and meta-analysis. Ophthalmic Genet, 34(3): 130–139 PMID:23289804
https://doi.org/10.3109/13816810.2012.746376
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed