Association between the 657T>C polymorphism of the chromosome segregation gene SYCP3 and idiopathic recurrent pregnancy loss in the Kazakh population


Citar

Texto integral

Acesso aberto Acesso aberto
Acesso é fechado Acesso está concedido
Acesso é fechado Acesso é pago ou somente para assinantes

Resumo

Aim. To investigate the association between the 657T>C polymorphism of the synaptonemal complex SYCP3 gene (rs769825641) and the development of idiopathic recurrent pregnancy loss (iRPL) in ethnically homogeneous Kazakh population. Material and methods. Three thousand two patients with iRPL and 300 women with normal reproductive function underwent independent replicative TagMan genotyping. Results. The study findings support the association between the studied polymorphism and the development of iRPL in the Kazakh population. The frequency of carrying the unfavorable C allele in the study group (3,97%) was significantly higher than in women with normal reproduction function (2,0%) (x2 = 4, 04; p < 0.05). Conclusions. Synaptonemal complex proteins play an important role in regulating meiosis in iRPL, suggesting the possibility of considering the studied polymorphism as a possible genetic risk factor for iRPL of unknown cause.

Texto integral

Acesso é fechado

Sobre autores

Gulnara Svyatova

JSC Research Center for Obstetrics, Gynecology, and Perinatology

Email: gsvyatova1@mail.ru

Galina Berezina

JSC Research Center for Obstetrics, Gynecology, and Perinatology

Email: gberezina54@mail.ru

Alexandra Murtazalieva

JSC Research Center for Obstetrics, Gynecology, and Perinatology

Email: alexmurtazalieva@gmail.com

Bibliografia

  1. Pfeifer S., Goldberg J., Lobo R., Thomas M., Widra E., Licht M., Collins J., Cedars M., Vernon M., Davis O., Gracia C., Catherino W., Thornton K., Rebar R., La Barbera A. Definitions of infertility and recurrent pregnancy loss: a committee opinion. Fertility and Sterility. 2013; 99(1): 63.doi: 10.1016/ j.fertnstert.2012.09.023.
  2. Сидельникова В.М. Невынашивание беременности - современный взгляд на проблему. Акушерство и гинекология. 2007; 5: 4-27.
  3. Беспалова О.Н. Генетика невынашивания беременности. Журнал акушерства и женских болезней. 2007; LVI(1): 81.
  4. Branch D.W., Gibson M., Silver R.M. Clinical practice. Recurrent miscarriage. N. Engl. J. Med. 2010; 363(18): 1740-7. doi: 10.1056/NEJMcp1005330.
  5. Bolor H., Mori T., Nishiyama S., Ito Y., Hosoba E., Inagaki H., et al. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am. J. Hum. Genet. 2009; 84(1): 14-20. doi: 10.1016/j.ajhg.2008.12.002.
  6. Miyamoto T., Hasuike S., Yogev L., Maduro M.R., Ishikawa M., Westphal H., et al. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet. 2003; 362(9397): 1714-9.doi: 10.1016/S0140-6736(03)14845-3
  7. Sazegari A., Kalantar S.M., Pashaiefar H., Mohtaram S., Honarvar N., Feizollahi Z., Ghasemi N.The T657C polymorphism on the SYCP3 gene is associated with recurrent pregnancy loss. J Assist Reprod Genet. 2014; 31(10): 1377-81. doi: 10.1007/s10815-014-0272-6
  8. Hanna C.W., Blair J.D., Stephenson M.D,. Robinson W.P. Absence of SYCP3 mutations in women with recurrent miscarriage with at least one trisomic miscarriage. Reprod. Biomed. Online. 2012; 24(2): 251-3. doi: 10.1016/j. rbmo.2011.10.013.
  9. Mizutani E., Suzumori N., Ozaki Y., Oseto K., Yamada-Namikawa C., Nakanishi M., et al. SYCP3 mutation may not be associated with recurrent miscarriage caused by aneuploidy. Human Reprod (Oxford, England). 2011; 26(5): 1259-66. doi: 10.1093/humrep/der035.
  10. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M. A., Bender D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81(3): 559-75. doi: 10.1086/519795.
  11. National Center for Biotechnology Information.https://www.ncbi.nlm.nih.gov/ snp/rs769825641#frequency_tab
  12. Martinez J., Bonache S., Carvajal A., Bassas L., Larriba S.Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest. FertilSteril. 2007; 88(4): 988-9.doi: 10.1016/j.fertnstert.11.163
  13. Gurkan H., Aydin F., Kadioglu A., Palanduz S. Investigation of mutations in the synaptonemal complex protein 3 (SYCP3) gene among azoospermic infertile male patients in the Turkish population. Andrologia. 2013; 45(2): 92-100. doi: 10.1111/j.1439-0272.2012.01317.x

Arquivos suplementares

Arquivos suplementares
Ação
1. JATS XML

Este site utiliza cookies

Ao continuar usando nosso site, você concorda com o procedimento de cookies que mantêm o site funcionando normalmente.

Informação sobre cookies