Association between RBMS1 gene rs7593730 and BCAR1 gene rs7202877 and Type 2 diabetes mellitus in the Chinese Han population

• Authors: Elena Kazakova , Meijun Chen , Esma Jamaspishvili , Zhang Lin , Jingling Yu , Lulu Sun , Hong Qiao
• Languages of publication: EN

Abstracts

EN

Two recent studies found that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 are related to type 2 diabetes. However, the association of these loci with type 2 diabetes mellitus (T2DM) has not been examined in Chinese. We performed a replication study to investigate the association of the 2 susceptibility loci with T2DM in the Chinese population. We genotyped 1961 Chinese participants (991 with T2DM and 970 controls) for each of the 2 single nucleotide polymorphisms (SNPs) rs7593730 in RBMS1 and rs7202877 near BCAR1 using SNPscan and examined their association with T2DM using logistic regression analysis. We also analyzed the correlation of the SNP alleles and clinical phenotypes. In additive model, genotype association analysis of BCAR1 rs7202877 loci revealed that the homozygous of rs7202877 GG carriers had significantly decreased T2DM risk compared to homozygous carriers of TT (P=0.038, OR 0.44, 95% CI 0.20-0.96). In the recessive model, the GG genotype GG had significantly decreased T2DM risk compared to GT+TT (P=0.043, OR 0.67, 95% CI 0.46-0.99). Allele G was statistically significantly correlated with TC (mmol/L) (P=0.036) and LDL-C (mmol/L) (P=0.007). As for rs7593730, the carriers of CT and TT genotype had significantly decreased T2DM risk compared to the carriers of CC genotype (CT: CC P=0.038, OR 0.71, 95% CI 0.51-0.98; TT: CC P=0.010, OR 0.32, 95% CI 0.13-0.76). In a dominant model, TT+CT: CC (P=0.013, OR 0.673, 95% CI 0.49-0.92) and in a recessive model, TT: CT+CC (P=0.019, OR 0.59, 95% CI 0.39-0.92). The T allele carriers had significantly decreased T2DM risk compared to the carriers of C (P=0.002, OR 0.65, 95% CI 0.50-0.86). Allele T was statistically correlated with FINS (P=0.010). In conclusion, our study showed that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 were significantly associated with type 2 diabetes in the Chinese population.

Keywords

EN

type 2 diabetes mellitus; RBMS1 gene; BCAR1 gene; single nucleotide polymorphisms; SNPscan

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2018
• Volume: 65
• Issue: 3
• Pages: 377-382

Dates

published

2018

received

2016-11-08

revised

2017-12-11

accepted

2018-06-09

(unknown)

2018-09-08

Contributors

author

Elena Kazakova

• Department of Endocrinology and Metabolism, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China

author

Meijun Chen

• Department of Endocrinology and Metabolism, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China

author

Esma Jamaspishvili

• Department of Endocrinology and Metabolism, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China

author

Zhang Lin

• Department of Endocrinology and Metabolism, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China

author

Jingling Yu

• General Hospital of Jixi Mining Group, Jixi, Heilongjiang, China

author

Lulu Sun

• Department of Endocrinology and Metabolism, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China

author

Hong Qiao

• Department of Endocrinology and Metabolism, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China

References

• Alberti KG, Zimmet P, Shaw J (2006) Metabolic syndrome - a new world-wide definition. A Consensus Statement from the International Diabetes Federation. Diabet Med 23: 469–480. doi: 10.1111/j.1464-5491.2006.01858.x.
• Alberti KG, Zimmet PZ (1998) Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med 15: 539-553. doi: 10.1002/(SICI)1096-9136(199807)15:7%3C539::AID-DIA668%3E3.0.CO;2-S.
• Cabodi S, Tinnirello A, Bisaro B, Tornillo G, del Pilar Camacho-Leal M, Forni G, Cojoca R, Iezzi M, Amici A, Montani M, Eva A, Di Stefano P, Muthuswamy SK, Tarone G, Turco E, Defilippi P (2010) p130Cas is an essential transducer element in ErbB2 transformation. FASEB J 24: 3796-380. doi: 10.1096/fj.10-157347.
• Cabodi S, Tinnirello A, Di Stefano P, Bisaro B, Ambrosino E, Castellano I, Sapino A, Arisio R, Cavallo F, Forni G, Glukhova M, Silengo L, Altruda F, Turco E, Tarone G, Defilippi P (2006) p130Cas as a new regulator of mammary epithelial cell proliferation, survival, and HER2-neu oncogene-dependent breast tumorigenesis. Cancer Res 66: 4672-4680. doi: 10.1158/0008-5472.CAN-05-2909.
• Campbell DD, Parra MV, Duque C, Gallego N, Franco L, Tandon A, Hunemeier T, Bortolini C, Villegas A, Bedoya G, McCarthy MI, Price A, Reich D, Ruiz-Linares A (2012) Amerind ancestry, socioeconomic status and the genetics of type 2 diabetes in a Colombian population. PloS One 7: e33570. doi: 10.1371/journal.pone.0033570.
• Carpino PA, Goodwin B (2010) Diabetes area participation analysis: a review of companies and targets described in the 2008-2010 patent literature. Expert Opin Ther Pat 20: 1627–1651. doi: 10.1517/13543776.2010.533171.
• Chehade JM, Mooradian AD (2000) A rational approach to drug therapy of type 2 diabetes mellitus. Drugs 60 95-113.
• DeFronzo RA (2004) Pathogenesis of type 2 diabetes mellitus. Med Clin North Am 88: 787-835. ix. doi: 10.1016/j.mcna.2004.04.013.
• Gertow K, Sennblad B, Strawbridge RJ, Ohrvik J, Zabaneh D, Shah S, Veglia F, Fava C, Kavousi M, McLachlan S, Kivimäki M, Bolton JL, Folkersen L, Gigante B, Leander K, Vikström M, Larsson M, Silveira A, Deanfield J, Voight BF, Fontanillas P, Sabater-Lleal M, Colombo GI, Kumari M, Langenberg C, Wareham NJ, Uitterlinden UH, Gabrielsen AF-C, Nyyssönen K, Rauramaa R, Tuomainen T-P, Smit AJ, Giral P, Mannarino E, Robertson CM, Talmud PJ, Hedblad B, Hofman A, Erdmann J, Reilly MP, O'Donnell CJ, Farrall M, Clarke R, Grazia Franzosi M, Seedorf U, Syvänen A-C, Hansson GK, Eriksson P, Samani NJ, Watkins H, Price JF, Hingorani AD, Melander O, Witteman JCM, Baldassarre D, Tremoli E, de Faire U, Humphries SE, Hamsten A (2012) Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk. Circ Cardiovasc Genet 5: 656-665. doi: 10.1161/CIRCGENETICS.112.963660.
• Harder MN, Ribel-Madsen R, Justesen JM, Sparso T, Andersson EA, Grarup N, Jorgensen T, Linneberg A, Hansen T, Pedersen O (2013) Type 2 diabetes risk alleles near BCAR1 and in ANK1 associate with decreased beta-cell function whereas risk alleles near ANKRD55 and GRB14 associate with decreased insulin sensitivity in the Danish Inter99 cohort. J Clin Endocrinol Metab 98: E801-E806. doi: 10.1210/jc.2012-4169.
• Kanner SB, Reynolds AB, Parsons JT (1991) Tyrosine phosphorylation of a 120-kilodalton pp60src substrate upon epidermal growth factor and platelet-derived growth factor receptor stimulation and in polyomavirus middle-T-antigen-transformed cells. Mol Cell Biol 11: 713-720.
• Keaton JM, Cooke Bailey JN, Palmer ND, Freedman BI, Langefeld CD, Ng MC, Bowden DW (2014) A comparison of type 2 diabetes risk allele load between African Americans and European Americans. Hum Genet 133: 1487-1495. doi: 10.1007/s00439-014-1486-5.
• Laakso M, Lehto S, Penttila I, Pyorala K (1993) Lipids and lipoproteins predicting coronary heart disease mortality and morbidity in patients with non-insulin-dependent diabetes. Circulation 88: 1421-1430.
• Maclay JD, McAllister DA, Macnee W (2007) Cardiovascular risk in chronic obstructive pulmonary disease. Respirology 12: 634-641. doi: 10.1111/j.1440-1843.2007.01136.x.
• Manninen V, Tenkanen L, Koskinen P, Huttunen JK, Manttari M, Heinonen OP, Frick MH (1992) Joint effects of serum triglyceride and LDL cholesterol and HDL cholesterol concentrations on coronary heart disease risk in the Helsinki Heart Study. Implications for treatment. Circulation 85: 37-45.
• Matsuba R, Sakai K, Imamura M, Tanaka Y, Iwata M, Hirose H, Kaku K, Maegawa H, Watada H, Tobe K, Kashiwagi A, Kawamori R, Maeda S (2015) Replication study in a Japanese population to evaluate the association between 10 SNP loci, identified in european genome-wide association studies, and type 2 diabetes. PloS One 10: e0126363. doi: 10.1371/journal.pone.0126363.
• McCarthy MI, Zeggini E (2009) Genome-wide association studies in type 2 diabetes. Curr Diab Rep 9: 164-171.
• Morris AP, Voight BF, Teslovich TM, Ferreira T, Segre AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, Prokopenko I, Kang HM, Dina C, Esko T, Fraser RM, Kanoni S, Kumar A, Lagou V, Langenberg C, Luan J, Lindgren CM, Müller-Nurasyid M, Pechlivanis S, Rayner NW, Scott LJ, Wiltshire S, Yengo L, Kinnunen L, Rossin EJ, Raychaudhuri S, Johnson AD, Dimas AS, Loos RJ, Vedantam S, Chen H, Florez JC, Fox C, Liu CT, Rybin D, Couper DJ, Kao WH, Li M, Cornelis MC, Kraft P, Sun Q, van Dam RM, Stringham HM, Chines PS, Fischer K, Fontanillas P, Holmen OL, Hunt SE, Jackson AU, Kong A, Lawrence R, Meyer J, Perry JR, Platou CG, Potter S, Rehnberg E, Robertson N, Sivapalaratnam S, Stančáková A, Stirrups K, Thorleifsson G, Tikkanen E, Wood AR, Almgren P, Atalay M, Benediktsson R, Bonnycastle LL, Burtt N, Carey J, Charpentier G, Crenshaw AT, Doney AS, Dorkhan M, Edkins S, Emilsson V, Eury E, Forsen T, Gertow K, Gigante B, Grant GB, Groves CJ, Guiducci C, Herder C, Hreidarsson AB, Hui J, James A, Jonsson A, Rathmann W, Klopp N, Kravic J, Krjutškov K, Langford C, Leander K, Lindholm E, Lobbens S, Männistö S, Mirza G, Mühleisen TW, Musk B, Parkin M, Rallidis L, Saramies J, Sennblad B, Shah S, Sigurðsson G, Silveira A, Steinbach G, Thorand B, Trakalo J, Veglia F, Wennauer R, Winckler W, Zabaneh D, Campbell H, van Duijn C, Uitterlinden AG, Hofman A, Sijbrands E, Abecasis GR, Owen KR, Zeggini E, Trip MD, Forouhi NG, Syvänen AC, Eriksson JG, Peltonen L, Nöthen MM, Balkau B, Palmer CN, Lyssenko V, Tuomi T, Isomaa B, Hunter DJ, Qi L; Wellcome Trust Case Control Consortium; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Asian Genetic Epidemiology Network-Type 2 Diabetes (AGEN-T2D) Consortium; South Asian Type 2 Diabetes (SAT2D) Consortium, Shuldiner AR, Roden M, Barroso I, Wilsgaard T, Beilby J, Hovingh K, Price JF, Wilson JF, Rauramaa R, Lakka TA, Lind L, Dedoussis G, Njølstad I, Pedersen NL, Khaw KT, Wareham NJ, Keinanen-Kiukaanniemi SM, Saaristo TE, Korpi-Hyövälti E, Saltevo J, Laakso M, Kuusisto J, Metspalu A, Collins FS, Mohlke KL, Bergman RN, Tuomilehto J, Boehm BO, Gieger C, Hveem K, Cauchi S, Froguel P, Baldassarre D, Tremoli E, Humphries SE, Saleheen D, Danesh J, Ingelsson E, Ripatti S, Salomaa V, Erbel R, Jöckel KH, Moebus S, Peters A, Illig T, de Faire U, Hamsten A, Morris AD, Donnelly PJ, Frayling TM, Hattersley AT, Boerwinkle E, Melander O, Kathiresan S, Nilsson PM, Deloukas P, Thorsteinsdottir U, Groop LC, Stefansson K, Hu F, Pankow JS, Dupuis J, Meigs JB, Altshuler D, Boehnke M, McCarthy MI; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium (2012) Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genet 44: 981–990. doi: 10.1038/ng.2383.
• Pan C, Yang W, Jia W, Weng J, Tian H (2009) Management of Chinese patients with type 2 diabetes, 1998-2006: the Diabcare-China surveys. Curr Med Res Opin 25: 39-45. doi: 10.1185/03007990802586079.
• Qi L, Cornelis MC, Kraft P, Stanya KJ, Linda Kao WH, Pankow JS, Dupuis J, Florez JC, Fox CS, Pare G, Qi Sun CJ, Girman CC, Laurie DB, Mirel TA, Manolio DI, Chasman E, Boerwinkle PM, Ridker DJ, Hunter JB, Meigs Ch-HL, Meta-Analysis of Glucose and Insulin-related traits Consortium (MAGIC), Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium, van Dam RM, Hu FB (2010) Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. Hum Mol Genet 19: 2706-2715. doi: 10.1093/hmg/ddq156.
• Reynolds AB, Roesel DJ, Kanner SB, Parsons JT (1989) Transformation-specific tyrosine phosphorylation of a novel cellular protein in chicken cells expressing oncogenic variants of the avian cellular src gene. Mol Cell Biol 9: 629-638.
• Saltiel AR, Kahn CR (2001) Insulin signalling and the regulation of glucose and lipid metabolism. Nature 414: 799-806. doi: 10.1038/414799a.
• Sanghera DK, Blackett PR (2012) Type 2 diabetes genetics: beyond GWAS. J Diabetes Metab 3. doi: 10.4172/2155-6156.1000198.
• Shoelson SE, Lee J, Goldfine AB (2006) Inflammation and insulin resistance. J Clin Invest 116: 1793-1801. doi: 10.1172/JCI29069.
• 't Hart LM, Fritsche A, Nijpels G, van Leeuwen N, Donnelly LA, Dekker JM, Alssema M, Fadista J, Carlotti F, Gjesing AP, Palmer CNA, van Haeften TW, Herzberg-Schäfer SA, Simonis-Bik AMC, Houwing-Duistermaat JJ, Helmer Q, Deelen J, Guigas B, Hansen T, Machicao F, Willemsen G, Heine RJ, Kramer MHH, Holst JJ, de Koning EJP, Häring H-U, Pedersen O, Groop L, de Geus EJC, Slagboom PE, Boomsma DI, Eekhoff EMW, Pearson ER, Diamant M (2013) The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway. Diabetes 62: 3275-3281. doi: 10.2337/db13-0227.
• Takai T, Nishita Y, Iguchi-Ariga SM, Ariga H (1994) Molecular cloning of MSSP-2, a c-myc gene single-strand binding protein: characterization of binding specificity and DNA replication activity. Nucleic Acids Res 22: 5576-5581.
• Tang DD (2009) p130 Crk-associated substrate (CAS) in vascular smooth muscle. J Cardiovasc Pharmacol Ther 14: 89-98. doi: 10.1177/1074248409333490.
• Tao X, Li J, Zhu X, Zhao B, Sun J, Ji L, Hu D, Pan C, Huang Y, Jiang S, Feng Q, Jiang C, on behalf of CCMR-3B STUDY Investigators (2016) Association between socioeconomic status and metabolic control and diabetes complications: a cross-sectional nationwide study in Chinese adults with type 2 diabetes mellitus. Cardiovasc Diabetol 15: 61. doi: 10.1186/s12933-016-0376-7.
• Tikhmyanova N, Little JL, Golemis EA (2010) CAS proteins in normal and pathological cell growth control. Cell Mol Life Sci: CMLS 67: 1025-1048. doi: 10.1007/s00018-009-0213-1.
• Wild S, Roglic G, Green A, Sicree R, King H (2004) Global prevalence of diabetes: estimates for the year 2000 and projections for 2030. Diabetes Care 27: 1047-1053.
• Yang W, Lu J, Weng J, Jia W, Ji L, Xiao J, Shan Z, Liu J, Tian H, Ji Q, Zhu D, Ge J, Lin L, Chen L, Guo X, Zhao Z, Li Q, Zhou Z, Shan G, He J, for the China National Diabetes and Metabolic Disorders Study Group (2010) Prevalence of diabetes among men and women in China. New Eng J Med 362: 1090-1101. doi: 10.1056/NEJMoa0908292.
• Zhu XW, Deng FY, Wu LF, Tang ZX, Lei SF (2015) Functional mechanisms for type 2 diabetes-associated genetic variants. J Diabetes Complications 29: 497-501. doi: 10.1016/j.jdiacomp.2015.02.007.

Identifiers

DOI

10.18388/abp.2017_1451