The FCRL3 ?69T>C polymorphism and the risk of endometriosis-related infertility in a Polish population

详细信息    查看全文

• 作者：Malgorzata Szczepańska ; Przemyslaw Wirstlein…
• 关键词：Polymorphisms ; Endometriosis ; Infertility
• 刊名：Archives of Gynecology and Obstetrics
• 出版年：2013
• 出版时间：October 2013
• 年：2013
• 卷：288
• 期：4
• 页码：799-804
• 全文大小：225KB
• 参考文献：1. de Ziegler D, Borghese B, Chapron C (2010) Endometriosis and infertility: pathophysiology and management. Lancet 376:730-38 CrossRef
  2. Ulukus M, Cakmak H, Arici A (2006) The role of endometrium in endometriosis. J Soc Gynecol Investig 13:467-76
  3. Brosens I, Benagiano G (2011) Endometriosis, a modern syndrome. Indian J Med Res 133:581-93
  4. Bulun SE (2009) Endometriosis. N Engl J Med 360:268-79 CrossRef
  5. Berbic M, Fraser IS (2011) Regulatory T cells and other leukocytes in the pathogenesis of endometriosis. J Reprod Immunol 88:149-55 CrossRef
  6. Matarese G, De Placido G, Nikas Y, Alviggi C (2003) Pathogenesis of endometriosis: natural immunity dysfunction or autoimmune disease? Trends Mol Med 9:223-28 CrossRef
  7. Sikora J, Mielczarek-Palacz A, Kondera-Anasz Z (2011) Role of natural killer cell activity in the pathogenesis of endometriosis. Curr Med Chem 18:200-08 CrossRef
  8. Berkkanoglu M, Arici A (2003) Immunology and endometriosis. Am J Reprod Immunol 50:48-9 CrossRef
  9. Carp HJ, Selmi C, Shoenfeld Y (2012) The autoimmune bases of infertility and pregnancy loss. J Autoimmun 38:J266–J274 CrossRef
  10. Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae SC, Tokuhiro S, Chang X, Sekine A, Takahashi A, Tsunoda T, Ohnishi Y, Kaufman KM, Kang CP, Kang C, Otsubo S, Yumura W, Mimori A, Koike T, Nakamura Y, Sasazuki T, Yamamoto K (2005) A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet 37:478-85 CrossRef
  11. Kochi Y, Myouzen K, Yamada R, Suzuki A, Kurosaki T, Nakamura Y, Yamamoto K (2009) FCRL3, an autoimmune susceptibility gene, has inhibitory potential on B-cell receptor-mediated signaling. J Immunol 183:5502-510 CrossRef
  12. Teles JS, Bianco B, Vilarino FL, André GM, Christofolini DM, Barbosa CP (2011) Association of FCRL3 C-169T promoter single-nucleotide polymorphism with idiopathic infertility and infertility-related endometriosis. J Reprod Immunol 89:212-15 CrossRef
  13. Canis M, Donnez JG, Guzick DS, Halme JK, Rock JA, Schenken RS (1997) Vernon MW Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril 67:817-21 CrossRef
  14. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-59 CrossRef
  15. Montgomery GW, Nyholt DR, Zhao ZZ, Treloar SA, Painter JN, Missmer SA, Kennedy SH, Zondervan KT (2008) The search for genes contributing to endometriosis risk. Hum Reprod Updat 14:447-57 CrossRef
  16. Simón C, Gutiérrez A, Vidal A, de los Santos MJ, Tarín JJ, Remohí J, Pellicer A (1994) Outcome of patients with endometriosis in assisted reproduction: results from in vitro fertilization and oocyte donation. Hum Reprod 9:725-29
  17. Tummon IS, Maclin VM, Radwanska E, Binor Z, Dmowski WP (1988) Occult ovulatory dysfunction in women with minimal endometriosis or unexplained infertility. Fertil Steril 50:716-20
  18. Taylor PV, Maloney MD, Campbell JM, Skerrow SM, Nip MM, Parmar R, Tate G (1991) Autoreactivity in women with endometriosis. Br J Obstet Gynaecol 98:680-84 CrossRef
  19. Lebovic DI, Mueller MD, Taylor RN (2001) Immunobiology of endometriosis. Fertil Steril 75:1-0 CrossRef
  20. Dmowski WP, Rana N, Michalowska J, Friberg J, Papierniak C, el-Roeiy A (1995) The effect of endometriosis, its stage and activity, and of autoantibodies on in vitro fertilization and embryo transfer success rates. Fertil Steril 63:555-62
  21. Inagaki J, Sugiura-Ogasawara M, Nomizu M, Nakatsuka M, Ikuta K, Suzuki N, Kaihara K, Kobayashi K, Yasuda T, Shoenfeld Y, Aoki K, Matsuura E (2003) An association of IgG anti-laminin-1 autoantibodies with endometriosis in infertile patients. Hum Reprod 18:544-49 CrossRef
  22. Tietjen GE, Bushnell CD, Herial NA, Utley C, White L, Hafeez F (2007) Endometriosis is associated with prevalence of comorbid conditions in migraine. Headache 47:1069-078 CrossRef
  23. Pasoto SG, Abrao MS, Viana VS, Bueno C, Leon EP, Bonfa E (2005) Endometriosis and systemic lupus erythematosus: a comparative evaluation of clinical manifestations and serological autoimmune phenomena. Am J Reprod Immunol 53:85-3 CrossRef
  24. Sinaii N, Cleary SD, Ballweg ML, Nieman LK, Stratton P (2002) High rates of autoimmune and endocrine disorders, fibromyalgia, chronic fatigue syndrome and atopic diseases among women with endometriosis: a survey analysis. Hum Reprod 17:2715-724 CrossRef
  25. Bianco B, André GM, Vilarino FL, Peluso C, Mafra FA, Christofolini DM, Barbosa CP (2012) The possible role of genetic variants in autoimmune-related genes in the development of endometriosis. Hum Immunol 73:306-15 CrossRef
  26. Bianco B, Teles JS, Lerner TG, Vilarino FL, Christofolini DM, Barbosa CP (2011) Association of / FCRL3 ?69T/C polymorphism with endometriosis and identification of a protective haplotype against the development of the disease in Brazilian population. Hum Immunol 72:774-78 CrossRef
  27. Barbosa CP, Teles JS, Lerner TG, Peluso C, Mafra FA, Vilarino FL, Christofolini DM, Bianco B (2012) Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis. Fertil Steril 97:1124-128 CrossRef
  28. Tanaka A, Ohira H, Kikuchi K, Nezu S, Shibuya A, Bianchi I, Podda M, Invernizzi P, Takikawa H (2011) Genetic association of Fc receptor-like 3 polymorphisms with susceptibility to primary biliary cirrhosis: ethnic comparative study in Japanese and Italian patients. Tissue Antigens 77:239-43 CrossRef
  29. Gibson AW, Li FJ, Wu J, Edberg JC, Su K, Cafardi J, Wiener H, Tiwari H, Kimberly RP, Davis RS (2009) The FCRL3-169CT promoter single-nucleotide polymorphism, which is associated with systemic lupus erythematosus in a Japanese population, predicts expression of receptor protein on CD19+ B cells. Arthr Rheum 60:3510-512 CrossRef
  30. Lamp M, Peters M, Reinmaa E, Haller-Kikkatalo K, Kaart T, Kadastik U, Karro H, Metspalu A, Salumets A (2011) Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis. Gynecol Endocrinol 27:425-33 CrossRef
  31. Liao WX, Roy AC, Chan C, Arulkumaran S, Ratnam SS (1998) A new molecular variant of luteinizing hormone associated with female infertility. Fertil Steril 69:102-06 CrossRef
  32. Mafra FA, Bianco B, Christofolini DM, Souza AM, Zulli K, Barbosa CP (2010) Luteinizing hormone beta-subunit gene (LHbeta) polymorphism in infertility and endometriosis-associated infertility. Eur J Obstet Gynecol Reprod Biol 151:66-9 CrossRef
  33. Zulli K, Bianco B, Mafra FA, Teles JS, Christofolini DM, Barbosa CP (2010) Polymorphism of the estrogen receptor β gene is related to infertility and infertility-associated endometriosis. Arq Bras Endocrinol Metabol 54:567-71 CrossRef
  34. Ruiz LA, Dutil J, Ruiz A, Fourquet J, Abac S, Laboy J, Flores I (2011) Single-nucleotide polymorphisms in the lysyl oxidase-like protein 4 and complement component 3 genes are associated with increased risk for endometriosis and endometriosis-associated infertility. Fertil Steril 96:512-15 CrossRef
  
• 作者单位：Malgorzata Szczepańska (1)
  Przemyslaw Wirstlein (1) (2)
  Hanna Ho?ysz (3)
  Jana Skrzypczak (1)
  Pawe? P. Jagodziński (2)
  
  1. Division of Reproduction, Department of Obstetrics, Gynecology and Gynecological Oncology, Poznań University of Medical Sciences, Poznań, Poland
  2. Department of Biochemistry and Molecular Biology, Poznań University of Medical Sciences, 6 ?wi?cickiego St., 60-781, Poznań, Poland
  3. Department of Clinical Chemistry and Molecular Diagnostics, Poznań University of Medical Sciences, 49 Przybyszewskiego St., 60-355, Poznań, Poland
  
• ISSN：1432-0711

文摘

Objective Recently, the FCRL3 ?69T>C (rs7528684) single-nucleotide polymorphism (SNP) has been demonstrated to be a risk factor of endometriosis related infertility. We studied whether the FCRL ?69T>C SNP can be associated with endometriosis-related infertility in a sample of the Polish population Methods Using PCR–RFLP analysis we genotyped 141 infertile women with endometriosis and 519 fertile women. FCRL3 transcript levels were determined by reverse transcription and real-time quantitative PCR analysis in CD19+ B cells from women with endometriosis-associated infertility and fertile women Results We found a significantly increased frequency of the FCRL3 C/C genotype in women with endometriosis-associated infertility than controls [OR?=?1.681 (95?% CI?=?1.120-.522, p?=?0.0116, p corr?=?0.0348)]. There was also a statistically increased frequency of the C/C and C/T genotypes in patients compared with controls [OR?=?2.009 (95?% CI?=?1.214-.324, p?=?0.0059, p corr?=?0.0177)]. The p value of the χ 2 test for the trend observed for the FCRL3 ?69T>C polymorphism was also statistically significant (p trend?=?0.0012, p corr?=?0.0036). We also found significantly increased FCRL3 transcript levels in carriers of the FCRL3 ?69 CC vs TT and CT vs TT genotype both in women with endometriosis-related infertility (p?=?0.012; p?=?0.015) and fertile women (p?=?0.017; p?=?0.032) Conclusions FCRL3 ?69T>C polymorphism alters the expression of FCRL3 and can be a risk factor of endometriosis-related infertility.