Araştırma Makalesi
Yıl 2019,
Cilt: 44 Sayı: 4, 1303 - 1309, 29.12.2019
Öz
Purpose: The aim of this study was to investigate the role of Fas cell surface death receptor (FAS) and FAS ligand genes (FASLG) polymorphisms in the etiology of recurrent miscarriage.
Materials and Methods: In a case–control study, genomic DNA was obtained from 70 patients and 70 healthy controls. Detected with real time PCR, genotype distributions and allelic frequencies of polymorphisms of FAS -670 A>G, FAS-1377 G>A, FASLG -124 A>G genes were compared between the groups.
Results: In this study, FASLG -124 A>G polymorphisms were associated with an increased risk of recurrent miscarriage whereas FAS −670 A>G and -1377 G>A genotypes conferred no risk. For the FASLG −124 A>G polymorphisms, the likelihood of disease in patients with A allele was 3.94 times higher than those without A allele.
Conclusion: Our findings suggest that the -124 A>G polymorphism in the FASLG gene related with apoptosis may contribute to susceptibility to recurrent miscarriage in the Turkish women.
Anahtar Kelimeler
Kaynakça
- Silver RM, Branch DW. Sporadic and recurrent pregnancy loss. In Clinical Obstetrics: The Fetus and the Mother (Eds Reece AE, Hobbins J):143-160. Oxford, Blackwell Publishing, 2007.
- Porter TF, Scott JR. Evidence-based care of recurrent miscarriage. Best Pract Res Clin Obstet Gynaecol 2005;19:85-101.
- Rushworth FH, Backos M, Rai R, Chilcott IT, Baxter N, Regan L. Prospective pregnancy outcome in untreated recurrent miscarriers with thyroid autoantibodies. Hum Reprod 2000;15:1637-9.
- Mills JL, Simpson JL, Driscoll SG. HICHD-DIEP Study: incidence of spontan abortion among normal women with insülin dependent diabetic women whose pregnancies were identified within 21 days of conception. N Engl J Med 1988;319:1617-23.
- Gurbuz B, Yalti S, Ficicioglu C, Ozden S, Yildirim G, Sayar C. Basal hormone levels in women with recurrent pregnancy loss. Gynecol Endocrinol 2009;17:317-21.
- Rai R, Backos M, Rushworth F, Regan L. Polycystic ovaries and recurrent miscarriage areappraisal. Hum Reprod 2000;15:612-5.
- Homer HA, Li TC, Cooke ID. The septate uterus:a review of management and reproductive outcome. Fertil Steril 2000;73(1):1-14.
- Marder W, Littlejohn EA, Somers EC. Pregnancy and autoimmune connective tissue diseases. Best Practice & Research Clinical Rheumatology 2016;30:63-80
- Clifford K, Flanagan AM, Regan L. Endometrial CD56+ natural killer cells in women with recurrent miscarriage: A histomorphometric study. Hum Reprod 1999;14:2727-30.
- Ralph SG, Rutherford AJ, Wilson JD. Influence of bacterial vaginosis on on conception and miscarriage in the first trimester: Cohort study. BMJ 1999;319:220-3.
- Adelberg A, Kuller J. Thrombophilias and recurrentmiscarriage. Obstet Gynecol Survey 2002;57:703-9.
- Klinea J, Tang A, Levin B. Smoking, alcohol and caffeine in relation to two hormonal indicators of ovarian age during the reproductive years. Maturitas 2016;90:115–122.
- Wapner RJ, Lewis D. Genetics and metabolic causes of stillbirth. Sem Perinat 2002;26:70-4.
- Banzato PC, Daher S, Traina E, Torloni MR Gueuvoghlanian-Silva BY, Puccini RF, Mattar R. FAS and FAS-L genotype and expression in patients with recurrent pregnancy loss. Reprod Sci 2013;20:1111–5.
- Elmore S. Apoptosis: A Review of Programmed Cell Death. Toxicol Pathol 2007;35(4):495–516.
- Budihardjo I, Oliver HLM. Biochemical pathways of caspase activation during apoptosis. Annu Rev Cell Dev Biol 1999;15:269-90.
- Abrahams V., Straszewski-Chavez SL, Guller S, Mor G. First trimester trophoblast cells secrete Fas ligand which induces immune cell apoptosis. Molecular Human Reproduction 2004;10:55–63.
- Sibley K, Rollinson S, Allan JM et al. Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Res 2003;63:4327-30.
- Mohammadzadeh A, Pourfathollah AA, Tahoori MT, Daneshmandi S, Langroudi L, Akhlaghi M. Evaluation of apoptosis-related gene Fas (CD95) and FasL (CD178) polymorphisms in Iranian rheumatoid arthritis patients. Rheumatol Int 2012;32(9):2833-6.
- Choi HK, Choi BC, Lee SH, Kim JW, Cha KY, Baek KH. Expression of angiogenesis- and apoptosis-related genes in chorionic villi derived from recurrent pregnancy loss patients. Mol Reprod Dev 2003;66(1):24-31.
- Sun T, Zho Y, Li H, Han X, Shi Y, Wang L, Miao X, et al. FASL -844 C polymorphism is associated with increased activation-induced T cell death and risk of cervical cancer. J Exp Med 2005;202:967-74.
- Ciarmela P, Boschi S, Bloise E, Marozio L, Benedetto C, Castellucci M, Petraglia F. Polymorphisms of FAS and FAS ligand genes in preeclamptic women. Eur J Obstet Gynecol Reprod Biol 2010;148:144-6.
- Fuks A, Parton LA, Polavarapu S, Netta D, Strassberg S, Godi I, Hsu CD. Polymorphism of Fas and Fas ligand in preterm premature rupture of membranes in singleton pregnancies. Am J Obstet Gynecol 2005;193:1132-6.
- Nair RR, Khanna A, Sing K. Association of FAS −1377 G>A and FAS −670 A>G functional polymorphisms of FAS gene of cell death pathway with recurrent early pregnancy loss risk. J Reprod Immun 2012;93:114-8.
- Han AR, Choi YM, Hong MA, Kim JJ, Lee SK, Yang KM, et al. Fas and FasL genetic polymorphisms in women with recurrent pregnancy loss: a case-control study. Hum Fertil 2018;20:1-6.
- Mehta PA, Gerbing RB, Alonzo TA, Elliott JS, Zamzow TA, Combs M, et al. FAS Promoter polymorphism: Outcome of childhood Acute Myeloid Leukemia. A children’s Oncology Group Report. Clin Cancer Res 2008;14(23):7896-9.
- Huang D, Xiao J, Deng X, Ma K, Liang H, Shi D, et al. Association between Fas/FasL gene polymorphism and musculoskeletal degenerative diseases: a meta-analysis. BMC Musculoskelet Disord 2018;19(1):137.
- Rehman S, Saba N, Naz M, Ahmed P, Munir S, Sajjad S, et al. Single-nucleotide polymorphisms of FAS and FASL genes and risk of idiopathic aplastic anemia. Immunol Invest 2018;47(5):484-91.
Tekrarlayan gebelik kayıplarında FAS ve FASLG polimorfizmlerinin TaqMan SNP genotiplendirme yöntemi ile belirlenmesi
Öz
Amaç: Bu çalışmada apoptotik uyarıcı Fas hücre yüzey ölüm reseptörü (FAS) ve FAS ligandı genleri (FASLG) polimorfizmlerinin tekrarlayan gebelik kaybı (TGK) etiyolojisindeki yeri araştırıldı.
Gereç ve Yöntem: Bu vaka-kontrol çalışmasında, TGK tanısı almış 70 kadın ve kontrol grubu olarak 70 kadından genomik DNA izole edildi. Her iki gruptaki FAS -670 A>G, FAS -1377 G>A ile FASLG -124 A>G polimorfizmlerinin genomik dağılımı ve allel frekansları real-time PCR yöntemi ile belirlenerek karşılaştırıldı.
Bulgular: Çalışmamızda, FASLG -124 A>G polimorfizmi için TGK ve kontrol gruplarının genotip frekans farkının istatistiksel olarak anlamlı olduğu saptandı. Ancak FAS −670 A>G ve FAS-1377 G>A genotipleri ile TGK arasında istatistiksel düzeyde anlamlı bir ilişki saptanmadı. FASLG −124 A>G polimorfizmi için A allelini taşıyanlarda hastalığın görülme olasılığı A allelini taşımayanlara göre 3,94 kat daha yüksek bulundu.
Sonuç: Bulgularımız, apoptozla ilişkili FASLG -124 A>G polimorfizminin TGK oluşumuna katkısı olabileceğini düşündürmektedir.
Anahtar Kelimeler
Kaynakça
- Silver RM, Branch DW. Sporadic and recurrent pregnancy loss. In Clinical Obstetrics: The Fetus and the Mother (Eds Reece AE, Hobbins J):143-160. Oxford, Blackwell Publishing, 2007.
- Porter TF, Scott JR. Evidence-based care of recurrent miscarriage. Best Pract Res Clin Obstet Gynaecol 2005;19:85-101.
- Rushworth FH, Backos M, Rai R, Chilcott IT, Baxter N, Regan L. Prospective pregnancy outcome in untreated recurrent miscarriers with thyroid autoantibodies. Hum Reprod 2000;15:1637-9.
- Mills JL, Simpson JL, Driscoll SG. HICHD-DIEP Study: incidence of spontan abortion among normal women with insülin dependent diabetic women whose pregnancies were identified within 21 days of conception. N Engl J Med 1988;319:1617-23.
- Gurbuz B, Yalti S, Ficicioglu C, Ozden S, Yildirim G, Sayar C. Basal hormone levels in women with recurrent pregnancy loss. Gynecol Endocrinol 2009;17:317-21.
- Rai R, Backos M, Rushworth F, Regan L. Polycystic ovaries and recurrent miscarriage areappraisal. Hum Reprod 2000;15:612-5.
- Homer HA, Li TC, Cooke ID. The septate uterus:a review of management and reproductive outcome. Fertil Steril 2000;73(1):1-14.
- Marder W, Littlejohn EA, Somers EC. Pregnancy and autoimmune connective tissue diseases. Best Practice & Research Clinical Rheumatology 2016;30:63-80
- Clifford K, Flanagan AM, Regan L. Endometrial CD56+ natural killer cells in women with recurrent miscarriage: A histomorphometric study. Hum Reprod 1999;14:2727-30.
- Ralph SG, Rutherford AJ, Wilson JD. Influence of bacterial vaginosis on on conception and miscarriage in the first trimester: Cohort study. BMJ 1999;319:220-3.
- Adelberg A, Kuller J. Thrombophilias and recurrentmiscarriage. Obstet Gynecol Survey 2002;57:703-9.
- Klinea J, Tang A, Levin B. Smoking, alcohol and caffeine in relation to two hormonal indicators of ovarian age during the reproductive years. Maturitas 2016;90:115–122.
- Wapner RJ, Lewis D. Genetics and metabolic causes of stillbirth. Sem Perinat 2002;26:70-4.
- Banzato PC, Daher S, Traina E, Torloni MR Gueuvoghlanian-Silva BY, Puccini RF, Mattar R. FAS and FAS-L genotype and expression in patients with recurrent pregnancy loss. Reprod Sci 2013;20:1111–5.
- Elmore S. Apoptosis: A Review of Programmed Cell Death. Toxicol Pathol 2007;35(4):495–516.
- Budihardjo I, Oliver HLM. Biochemical pathways of caspase activation during apoptosis. Annu Rev Cell Dev Biol 1999;15:269-90.
- Abrahams V., Straszewski-Chavez SL, Guller S, Mor G. First trimester trophoblast cells secrete Fas ligand which induces immune cell apoptosis. Molecular Human Reproduction 2004;10:55–63.
- Sibley K, Rollinson S, Allan JM et al. Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Res 2003;63:4327-30.
- Mohammadzadeh A, Pourfathollah AA, Tahoori MT, Daneshmandi S, Langroudi L, Akhlaghi M. Evaluation of apoptosis-related gene Fas (CD95) and FasL (CD178) polymorphisms in Iranian rheumatoid arthritis patients. Rheumatol Int 2012;32(9):2833-6.
- Choi HK, Choi BC, Lee SH, Kim JW, Cha KY, Baek KH. Expression of angiogenesis- and apoptosis-related genes in chorionic villi derived from recurrent pregnancy loss patients. Mol Reprod Dev 2003;66(1):24-31.
- Sun T, Zho Y, Li H, Han X, Shi Y, Wang L, Miao X, et al. FASL -844 C polymorphism is associated with increased activation-induced T cell death and risk of cervical cancer. J Exp Med 2005;202:967-74.
- Ciarmela P, Boschi S, Bloise E, Marozio L, Benedetto C, Castellucci M, Petraglia F. Polymorphisms of FAS and FAS ligand genes in preeclamptic women. Eur J Obstet Gynecol Reprod Biol 2010;148:144-6.
- Fuks A, Parton LA, Polavarapu S, Netta D, Strassberg S, Godi I, Hsu CD. Polymorphism of Fas and Fas ligand in preterm premature rupture of membranes in singleton pregnancies. Am J Obstet Gynecol 2005;193:1132-6.
- Nair RR, Khanna A, Sing K. Association of FAS −1377 G>A and FAS −670 A>G functional polymorphisms of FAS gene of cell death pathway with recurrent early pregnancy loss risk. J Reprod Immun 2012;93:114-8.
- Han AR, Choi YM, Hong MA, Kim JJ, Lee SK, Yang KM, et al. Fas and FasL genetic polymorphisms in women with recurrent pregnancy loss: a case-control study. Hum Fertil 2018;20:1-6.
- Mehta PA, Gerbing RB, Alonzo TA, Elliott JS, Zamzow TA, Combs M, et al. FAS Promoter polymorphism: Outcome of childhood Acute Myeloid Leukemia. A children’s Oncology Group Report. Clin Cancer Res 2008;14(23):7896-9.
- Huang D, Xiao J, Deng X, Ma K, Liang H, Shi D, et al. Association between Fas/FasL gene polymorphism and musculoskeletal degenerative diseases: a meta-analysis. BMC Musculoskelet Disord 2018;19(1):137.
- Rehman S, Saba N, Naz M, Ahmed P, Munir S, Sajjad S, et al. Single-nucleotide polymorphisms of FAS and FASL genes and risk of idiopathic aplastic anemia. Immunol Invest 2018;47(5):484-91.
Toplam 28 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Klinik Tıp Bilimleri, Kadın Hastalıkları ve Doğum |
| Bölüm | Araştırma |
| Yazarlar | |
| Yayımlanma Tarihi | 29 Aralık 2019 |
| Kabul Tarihi | 3 Nisan 2019 |
| Yayımlandığı Sayı | Yıl 2019 Cilt: 44 Sayı: 4 |
