期刊论文详细信息
Lipids in Health and Disease
Polymorphisms of PTPN11 gene could influence serum lipid levels in a sex-specific pattern
Jing Jiang1  Punyaram Kharbuja2  Fei Kong1  Dong-Hui Cao1  Xue-Yuan Cao2  Zhi-Fang Jia1 
[1] Division of Clinical Epidemiology, First Hospital of Jilin University, Changchun 130021, China;Department of Gastrointestinal Surgery, First Hospital of Jilin University, Changchun 130021, China
关键词: High-density lipoprotein cholesterol (HDL-C);    Low-density lipoprotein cholesterol (LDL-C);    Total cholesterol (TC);    Triglyceride (TG);    Single nucleotide polymorphism (SNP);    PTPN11;   
Others  :  834644
DOI  :  10.1186/1476-511X-12-72
 received in 2013-03-15, accepted in 2013-05-10,  发布年份 2013
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【 摘 要 】

Background

Previous studies have reported that different genotypes of PTPN11 gene (protein tyrosine phosphatase, non-receptor 11) were associated with different levels of serum lipids. The aim of this study was to explore the relationship between single nucleotide polymorphisms (SNPs) of PTPN11 and serum lipids in Northeast Chinese.

Methods

A total of 1003 subjects, 584 males and 419 females, were included in the study and their serum lipids were determined. Five htSNPs (rs2301756, rs12423190, rs12229892, rs7958372 and rs4767860) of PTPN11 gene were genotyped using TaqMan assay method.

Results

All of the five SNPs were in Hardy-Weinberg equilibrium. The male subjects had higher triglyceride (TG), higher low-density lipoprotein cholesterol (LDL-C) and lower high-density lipoprotein cholesterol (HDL-C) level than females. In males, rs4767860 was found to be associated with serum TG and total cholesterol (TC) levels and rs12229892 was associated with TC level. However, these significant associations could not be observed in females. In females, rs2301756 was found to be associated with TG and rs7958372 was associated with LDL-C level. Haplotype analysis showed that the GCGTG haplotype was associated with slightly higher TG level and ATGCG with higher TC level.

Conclusions

SNPs of PTPN11 may play a role in serum lipids in a sex-specific pattern. However, more studies are needed to confirm the conclusion and explore the underlying mechanism.

【 授权许可】

   
2013 Jia et al.; licensee BioMed Central Ltd.

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【 参考文献 】
  • [1]Castelli WP, Anderson K, Wilson PW, Levy D: Lipids and risk of coronary heart disease. The Framingham Study. Ann Epidemiol 1992, 2:23-28.
  • [2]Kannel WB, Gordon T, Dawber TR: Role of lipids in the development of brain infarction: the Framingham study. Stroke 1974, 5:679-685.
  • [3]Boden WE: High-density lipoprotein cholesterol as an independent risk factor in cardiovascular disease: assessing the data from Framingham to the Veterans Affairs High–Density Lipoprotein Intervention Trial. Am J Cardiol 2000, 86:19L-22L.
  • [4]Gu D, Reynolds K, Wu X, Chen J, Duan X, Reynolds RF, Whelton PK, He J: Prevalence of the metabolic syndrome and overweight among adults in China. Lancet 2005, 365:1398-1405.
  • [5]Thomsen SB, Rathcke CN, Skaaby T, Linneberg A, Vestergaard H: The association between genetic variations of CHI3L1, levels of the encoded glycoprotein YKL-40 and the lipid profile in a danish population. PLoS One 2012, 7:e47094.
  • [6]Yin RX, Wu DF, Miao L, Aung LH, Cao XL, Yan TT, Long XJ, Liu WY, Zhang L, Li M: Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels. Cardiovasc Diabetol 2012, 11:123. BioMed Central Full Text
  • [7]Lauriol J, Kontaridis MI: PTPN11-associated mutations in the heart: has LEOPARD changed its RASpots? Trends Cardiovasc Med 2011, 21:97-104.
  • [8]Krajewska M, Banares S, Zhang EE, Huang X, Scadeng M, Jhala US, Feng GS, Krajewski S: Development of diabesity in mice with neuronal deletion of Shp2 tyrosine phosphatase. Am J Pathol 2008, 172:1312-1324.
  • [9]Ugi S, Maegawa H, Kashiwagi A, Adachi M, Olefsky JM, Kikkawa R: Expression of dominant negative mutant SHPTP2 attenuates phosphatidylinositol 3′-kinase activity via modulation of phosphorylation of insulin receptor substrate-1. J Biol Chem 1996, 271:12595-12602.
  • [10]Phung TL, Roncone A, Jensen KL, Sparks CE, Sparks JD: Phosphoinositide 3-kinase activity is necessary for insulin-dependent inhibition of apolipoprotein B secretion by rat hepatocytes and localizes to the endoplasmic reticulum. J Biol Chem 1997, 272:30693-30702.
  • [11]Cooke M, Orlando U, Maloberti P, Podestá EJ, Maciel FC: Tyrosine phosphatase SHP2 regulates the expression of acyl-CoA synthetase ACSL4. J Lipid Res 2011, 52:1936-1948.
  • [12]Cooke M, Mele P, Maloberti P, Duarte A, Poderoso C, Orlando U, Paz C, Cornejo Maciel F, Podesta EJ: Tyrosine phosphatases as key regulators of StAR induction and cholesterol transport: SHP2 as a potential tyrosine phosphatase involved in steroid synthesis. Mol Cell Endocrinol 2011, 336:63-69.
  • [13]Jamshidi Y, Gooljar SB, Snieder H, Wang X, Ge D, Swaminathan R, Spector TD, O’Dell SD: SHP-2 and PI3-kinase genes PTPN11 and PIK3R1 may influence serum apoB and LDL cholesterol levels in normal women. Atherosclerosis 2007, 194:e26-e33.
  • [14]De La Vega FM: Selecting single-nucleotide polymorphisms for association studies with SNPbrowser software. Meth Mol Biol 2007, 376:177-193.
  • [15]Jiang J, Jia ZF, Kong F, Jin MS, Wang YP, Tian S, Suo J, Cao X: Association of polymorphism of PTPN 11 encoding SHP-2 with gastric atrophy but not gastric cancer in helicobacter pylori seropositive Chinese population. BMC Gastroenterol 2012, 12:89. BioMed Central Full Text
  • [16]Lin DY, Zeng D, Millikan R: Maximum likelihood estimation of haplotype effects and haplotype-environment interactions in association studies. Genet Epidemiol 2005, 29:299-312.
  • [17]Kolovou V, Marvaki A, Karakosta A, Vasilopoulos G, Kalogiani A, Mavrogeni S, Degiannis D, Marvaki C, Kolovou G: Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses. Lipids Health Dis 2012, 11:62. BioMed Central Full Text
  • [18]Bermudez OI, Velez-Carrasco W, Schaefer EJ, Tucker KL: Dietary and plasma lipid, lipoprotein, and apolipoprotein profiles among elderly hispanics and non-hispanics and their association with diabetes. Am J Clin Nutr 2002, 76:1214-1221.
  • [19]Okada R, Suzuki K, Nishio K, Ishida Y, Kawai S, Goto Y, Naito M, Wakai K, Ito Y, Hamajima N: Modification of the effect of smoking on cholesterol in Japanese carriers of a PTPN11 polymorphism. Mol Med Report 2008, 1:595-598.
  • [20]Zhu F, Loh M, Hill J, Lee S, Koh KX, Lai KW, Salto-Tellez M, Iacopetta B, Yeoh KG, Soong R: Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study. BMC Gastroenterol 2009, 9:76. BioMed Central Full Text
  • [21]Hishida A, Matsuo K, Goto Y, Naito M, Wakai K, Tajima K, Hamajima N: Associations of a PTPN11 G/A polymorphism at intron 3 with helicobactor pylori seropositivity, gastric atrophy and gastric cancer in Japanese. BMC Gastroenterol 2009, 9:51. BioMed Central Full Text
  • [22]Lu Y, Dolle ME, Imholz S, Van’t Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. J Lipid Res 2008, 49:2582-2589.
  • [23]Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH: Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004, 305:869-872.
  • [24]Polisecki E, Peter I, Robertson M, McMahon AD, Ford I, Packard C, Shepherd J, Jukema JW, Blauw GJ, Westendorp RG: Genetic variation at the PCSK9 locus moderately lowers low-density lipoprotein cholesterol levels, but does not significantly lower vascular disease risk in an elderly population. Atherosclerosis 2008, 200:95-101.
  • [25]Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH: Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006, 354:1264-1272.
  • [26]Hubacek JA, Wang WW, Skodova Z, Adamkova V, Vrablik M, Horinek A, Stulc T, Ceska R, Talmud PJ: APOA5 Ala315 > Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels. Clin Chem Lab Med 2008, 46:773-777.
  • [27]Cai H, Huang J, Xu G, Yang Z, Liu M, Mi Y, Liu W, Wang H, Qian D: Prevalence and determinants of metabolic syndrome among women in Chinese rural areas. PLoS One 2012, 7:e36936.
  • [28]Li Q, Wei XL, Yin RX: Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities. Lipids Health Dis 2012, 11:46. BioMed Central Full Text
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