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Các biến thể đơn nucleotide rs7903146 và rs12255372 trong gen yếu tố phiên mã 7 như 2 có liên quan đến nguy cơ gia tăng mắc tiểu đường thai kỳ ở phụ nữ Ai Cập?
Tóm tắt
Các biến thể di truyền trong gen yếu tố phiên mã 7 như 2 (TCF7L2) có liên quan đến tiểu đường loại 2 (T2D) và tiểu đường thai kỳ (GDM) ở nhiều quần thể, nhưng còn thiếu số liệu thống kê về GDM ở phụ nữ Ai Cập. Mục tiêu của nghiên cứu này là đánh giá tác động của hai đa hình rs7903146 và rs12255372 trong gen TCF7L2 đối với sự phát triển của GDM ở phụ nữ Ai Cập. Chúng tôi đã tuyển chọn 114 phụ nữ mang thai có độ dung nạp glucose bình thường và 114 người có GDM theo hướng dẫn của Hiệp hội Quốc tế về Tiểu đường và Nghiên cứu Thai kỳ (IADPSG). Chúng tôi đã thu thập hồ sơ về huyết áp, chỉ số khối cơ thể (BMI), mức glucose trong máu, hemoglobin A1C (HbA1c) và hồ sơ lipid. Việc genotyping các đa hình rs7903146 và rs12255372 được thực hiện bằng phương pháp phản ứng chuỗi polymerase–polymorphism chiều dài đoạn cắt hạn chế (PCR-RFLP). Ý nghĩa thống kê của BMI trước khi mang thai, đường huyết lúc đói (FBS), HbA1c, lipoprotein tỷ trọng thấp (LDL) và cholesterol tổng (Tch) cao hơn, P < 0.001, ở phụ nữ bị GDM so với phụ nữ mang thai không bị GDM. Các kiểu gen CT và TT trong SNP rs7903146 là 46.5% so với 54%, P <0.04, OR; CI = 1.9 (1.0 đến 3.78); các người mang TT chiếm 37.7% so với 9.6%, P <0.001, OR (CI) = 8.9 (3.7–21.1), tương ứng. Đối với SNP rs12255372 của gen TCFL2, các người mang GT chiếm 48.2% so với 39.5%, P= 0.004, OR (CI) = 2.3 (1.3–4.2), trong khi các người mang TT chiếm 24.6% so với 7.9%, P < 0.001, OR (CI) = 6 (2.5–14.3). Nghiên cứu cho thấy có sự gia tăng đáng kể tần suất các kiểu gen CT/TT trong SNP rs7903146 và GT/TT trong SNP rs12255372 trong gen TCF7L2 ở phụ nữ GDM so với phụ nữ mang thai khỏe mạnh (nhóm đối chứng).
Từ khóa
#tiểu đường thai kỳ #gen TCF7L2 #đa hình đơn nucleotide #phụ nữ Ai CậpTài liệu tham khảo
ADA (2013) Diagnosis and classification of diabetes mellitus. American Diabetes Association. Diabetes Care
Lende M, Rijhsinghani A (2020) Gestational diabetes: overview with emphasis on medical management. Int J Environ Res Public Health 17. https://doi.org/10.3390/ijerph17249573
Hartling L, Dryden DM, Guthrie A, Muise M, Vandermeer B, Aktary WM et al (2012) Screening and diagnosing gestational diabetes mellitus. Evid Rep Technol Assess(210):1–327 (Full Rep)
Moyer VA (2014) Screening for gestational diabetes mellitus: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. https://doi.org/10.7326/m13-2905
Barakat MN, Youssef RM, Al-Lawati JA (2010) Pregnancy outcomes of diabetic women: charting Oman’s progress towards the goals of the Saint Vincent Declaration. Ann Saudi Med. https://doi.org/10.4103/0256-4947.65253
Khalil NA (2017) Screening for gestational diabetes among pregnant women attending a rural family health center- Menoufia Governorate- Egypt. J Fam Med Heal Care. https://doi.org/10.11648/j.jfmhc.20170301.12
Guariguata L, Whiting DR, Hambleton I, Beagley J, Linnenkamp U, Shaw JE (2014) Global estimates of diabetes prevalence for 2013 and projections for 2035. Diabetes Res Clin Pract. https://doi.org/10.1016/j.diabres.2013.11.002
Lende M, Rijhsinghani A. Gestational Diabetes: Overview with Emphasis on Medical Management. Int J Environ Res Public Health. 2020;17(24):9573. https://doi.org/10.3390/ijerph17249573.
Metzger BE, Gabbe SG, Persson B, Lowe LP, Dyer AR, Oats JJN et al (2010) International Association of Diabetes and Pregnancy Study Groups recommendations on the diagnosis and classification of hyperglycemia in pregnancy: response to Weinert. Diabetes Care. https://doi.org/10.2337/dc09-1848
Association AD, ADA (2013) American Diabetes Association: Diagnosis and classification of diabetes mellitus. Diabetes Care
Buchanan TA, Xiang A, Kjos SL, Watanabe R (2007) What is gestational diabetes? Diabetes Care. https://doi.org/10.2337/dc07-s201
Castorino K, Jovanovič L (2011) Pregnancy and diabetes management: advances and controversies. Clin Chem. https://doi.org/10.1373/clinchem.2010.155382
Lyssenko V, Lupi R, Marchetti P, Del Guerra S, Orho-Melander M, Almgren P et al (2007) Mechanisms by which common variants in the TCF7L2 gene increase risk of type 2 diabetes. J Clin Invest. https://doi.org/10.1172/JCI30706
Hansson O, Zhou Y, Renström E, Osmark P (2010) Molecular function of TCF7L2: consequences of TCF7L2 splicing for molecular function and risk for type 2 diabetes. Curr Diab Rep. https://doi.org/10.1007/s11892-010-0149-8
Grant SFA, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, Sainz J et al (2006) Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet. https://doi.org/10.1038/ng1732
Stuebe AM, Wise A, Nguyen T, Herring A, North KE, Siega-Riz AM (2014) Maternal genotype and gestational diabetes. Am J Perinatol. https://doi.org/10.1055/s-0033-1334451
Boj SF, Van Es JH, Huch M, Li VSW, José A, Hatzis P et al (2012) Diabetes risk gene and Wnt effector Tcf7l2/TCF4 controls hepatic response to perinatal and adult metabolic demand. Cell. https://doi.org/10.1016/j.cell.2012.10.053
Ip W, Shao W, Song Z, Chen Z, Wheeler MB, Jin T (2015) Liver-specific expression of dominant-negative transcription factor 7-like 2 causes progressive impairment in glucose homeostasis. Diabetes. https://doi.org/10.2337/db14-1329
Shaat N, Lernmark Å, Karlsson E, Ivarsson S, Parikh H, Berntorp K et al (2007) A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus. Diabetologia. https://doi.org/10.1007/s00125-007-0623-2
Freathy RM, Hayes MG, Urbanek M, Lowe LP, Lee H, Ackerman C et al (2010) Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the I. Diabetes. https://doi.org/10.2337/db10-0177
Cauchi S, El Achhab Y, Choquet H, Dina C, Krempler F, Weitgasser R et al (2007) TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis. J Mol Med. https://doi.org/10.1007/s00109-007-0203-4
Lauenborg J, Grarup N, Damm P, Borch-Johnsen K, Jørgensen T, Pedersen O et al (2009) Common type 2 diabetes risk gene variants associate with gestational diabetes. J Clin Endocrinol Metab. https://doi.org/10.1210/jc.2008-1336
Pappa KI, Gazouli M, Economou K, Daskalakis G, Anastasiou E, Anagnou NP et al (2011) Gestational diabetes mellitus shares polymorphisms of genes associated with insulin resistance and type 2 diabetes in the Greek population. Gynecol Endocrinol. https://doi.org/10.3109/09513590.2010.490609
Cho YM, Kim TH, Lim S, Choi SH, Shin HD, Lee HK et al (2009) Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population. Diabetologia. https://doi.org/10.1007/s00125-008-1196-4
Watanabe RM, Allayee H, Xiang AH, Trigo E, Hartiala J, Lawrence JM et al (2007) Transcription factor 7-like 2 (TCF7L2) is associated with gestational diabetes mellitus and interacts with adiposity to alter insulin secretion in Mexican Americans. Diabetes. https://doi.org/10.2337/db06-1682
Metzger BE (2010) International Association of Diabetes and Pregnancy Study Groups recommendations on the diagnosis and classification of hyperglycemia in pregnancy. Diabetes Care. https://doi.org/10.2337/dc09-1848
Parra-Cordero M, Lees C, Missfelder-Lobos H, Seed P, Harris C (2007) Fetal arterial and venous Doppler pulsatility index and time averaged velocity ranges. Prenat Diagn. https://doi.org/10.1002/pd.1868
Lahiri DK, Numberger JI (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. https://doi.org/10.1093/nar/19.19.5444
Bodhini D, Radha V, Dhar M, Narayani N, Mohan V (2007) The rs12255372(G/T) and rs7903146(C/T) polymorphisms of the TCF7L2 gene are associated with type 2 diabetes mellitus in Asian Indians. Metabolism. https://doi.org/10.1016/j.metabol.2007.04.012
Szepietowska B, Moczulski D, Wawrusiewicz-Kurylonek N, Grzeszczak W, Gorska M, Szelachowska M (2010) Transcription factor 7-like 2-gene polymorphism is related to fasting C peptide in latent autoimmune diabetes in adults (LADA). Acta Diabetol. https://doi.org/10.1007/s00592-009-0133-4
Ye D, Fei Y, Ling Q, Xu W, Zhang Z, Shu J et al (2016) Polymorphisms in TCF7L2 gene are associated with gestational diabetes mellitus in Chinese Han population. Sci Rep. https://doi.org/10.1038/srep30686
Noctor E (2015) Type 2 diabetes after gestational diabetes: the influence of changing diagnostic criteria. World J Diabetes. https://doi.org/10.4239/wjd.v6.i2.234
Wung SF, Lin PC (2011) Shared genomics of type 2 and gestational diabetes mellitus. Annu Rev Nurs Res. https://doi.org/10.1891/0739-6686.29.227
Reyes-López R, Pérez-Luque E, Malacara JM. Metabolic, hormonal characteristics and genetic variants of TCF7L2 associated with development of gestational diabetes mellitus in Mexican women. Diabetes Metab Res Rev. 2014;30(8):701-6. https://doi.org/10.1002/dmrr.2538.
Huerta-Chagoya A, Vázquez-Cárdenas P, Moreno-Macías H, Tapia-Maruri L, Rodríguez-Guillén R, López-Vite E et al (2015) Genetic determinants for gestational diabetes mellitus and related metabolic traits in Mexican women. PLoS One. https://doi.org/10.1371/journal.pone.0126408
Wang B, Xue X (2020) Investigations of associations between seven gene polymorphisms and gestational diabetes mellitus: evidence from a meta-analysis. Gynecol Obstet Investig. https://doi.org/10.1159/000505453
Guinan KJ (2012) Worldwide distribution of type II diabetes-associated TCF7L2 SNPs: evidence for stratification in Europe. Biochem Genet. https://doi.org/10.1007/s10528-011-9456-2
Bryson CL, Ioannou GN, Rulyak SJ, Critchlow C (2003) Association between gestational diabetes and pregnancy-induced hypertension. Am J Epidemiol. https://doi.org/10.1093/aje/kwg273
Vysočanová M, Floriánová A, Špinar J (2018) Hypertension in pregnancy. Kardiol Rev. https://doi.org/10.7175/cmi.v1i1.615
Rezaei M, Palizban A, Zamani-Doabi S, Shojaee M (2016) Transcription factor 7-like 2 (TCF7L2) gene polymorphism rs7903146 is associated with lipid profile and risk of cardiovascular disease in metabolic syndrome subjects. J Biol Todays World. https://doi.org/10.15412/J.JBTW.01050703
Potasso L, Perakakis N, Lamprinou A, Polyzou E, Kassanos D, Peter A et al (2020) Clinical impact of the TCF7L2 gene rs7903146 type 2 diabetes mellitus risk polymorphism in women with gestational diabetes mellitus: impaired glycemic control and increased need of insulin therapy. Exp Clin Endocrinol Diabetes. https://doi.org/10.1055/a-1008-9223
Reyes-López R, Perez-Luque E, Malacara JM (2019) Relationship of lactation, BMI, and rs12255372 TCF7L2 polymorphism on the conversion to type 2 diabetes mellitus in women with previous gestational diabetes. Gynecol Endocrinol. https://doi.org/10.1080/09513590.2018.1531984
Reyes-López R, Pérez-Luque E, Malacara JM (2014) Metabolic, hormonal characteristics and genetic variants of TCF7L2 associated with development of gestational diabetes mellitus in Mexican women. Diabetes Metab Res Rev. https://doi.org/10.1002/dmrr.2538
Chang S, Wang Z, Wu L, Lu X, Shangguan S, Xin Y et al (2017) Association between TCF7L2 polymorphisms and gestational diabetes mellitus: a meta-analysis. J Diabetes Investig. https://doi.org/10.1111/jdi.12612
Lin PC, Lin WT, Yeh YH, Wung SF (2016) Transcription factor 7-like 2 (TCF7L2) rs7903146 polymorphism as a risk factor for gestational diabetes mellitus: a meta-analysis. PLoS One. https://doi.org/10.1371/journal.pone.0153044
Francaite-Daugeliene M, Lesauskaite V, Tamosiunas A, Jasukaitiene A, Velickienė D (2021) Genetic variants of TCF7L2 gene and its coherence with metabolic parameters in Lithuanian (Kaunas district) women population with previously diagnosed gestational diabetes mellitus compared to general population. Diabetes Res Clin Pract 172. https://doi.org/10.1016/j.diabres.2020.108636
de Melo SF, Frigeri HR, dos Santos-Weiss ICR, Réa RR, de Souza EM, Alberton D et al (2015) Polymorphisms in FTO and TCF7L2 genes of Euro-Brazilian women with gestational diabetes. Clin Biochem. https://doi.org/10.1016/j.clinbiochem.2015.06.013
Gorczyca-Siudak D, Michalak-Wojnowska M, Gorczyca T, Mosiewicz B, Kwaśniewska A, Filip A et al (2016) Association between rs7901695 and rs7903146 polymorphisms of the TCF7L2 gene and gestational diabetes in the population of Southern Poland. Ginekol Pol. https://doi.org/10.5603/GP.2016.0081
Thomas N, Mahesh DM, Chapla A, Paul J, Shwetha N, Christina F et al (2014) Does TCF7L2 polymorphisms increase the risk of gestational diabetes mellitus in South Indian population? Endocr Abstr. https://doi.org/10.1530/endoabs.34.p270
Rizk N (2011) The Associations of Transcription Factor 7-like 2 [TCF7L2] Gene with gestational diabetes mellitus in State of Qatar. Qatar Found Annu Res Forum Proc. https://doi.org/10.5339/qfarf.2011.bmp8