Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner

被引：13

作者：

Bitti, Maria Luisa Manca ^{[2
]}

Saccucci, Patrizia ^{[1
]}

Capasso, Francesca ^{[3
]}

Piccinini, Simona ^{[2
]}

Angelini, Federica ^{[3
,4
]}

Rapini, Novella ^{[5
]}

Porcari, Marta ^{[2
]}

Arcano, Susanna ^{[2
]}

Petrelli, Arianna ^{[2
]}

Del Duca, Elisabetta ^{[2
]}

Bottini, Egidio ^{[1
]}

Gloria-Bottini, Fulvia ^{[1
]}

机构：

[1] Univ Tor Vergata, Dept Biopathol & Imaging Diagnost, I-00133 Rome, Italy

[2] Tor Vergata Univ Hosp, Pediat Diabet Unit, Rome, Italy

[3] Univ Roma Tor Vergata, Dept Pediat, Rome, Italy

[4] Childrens Hosp Bambino Gesu, Rome, Italy

[5] La Jolla Inst Allergy & Immunol, Div Cell Biol, La Jolla, CA USA

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2011年 / 24卷 / 7-8期

关键词：

genotypes; p53; type; 1; diabetes; T-CELLS; POLYMORPHISM; APOPTOSIS; GENETICS;

D O I：

10.1515/JPEM.2011.058

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In type 1 diabetes mellitus (T1D) p53 pathways are up-regulated and there is an increased susceptibility to apoptosis. The hypothesis is that p53 codon 72 polymorphism could be associated with T1D. A total of 286 children with T1D and a control sample of 730 subjects were studied. p53 codon 72 polymorphism was analysed by polymerase chain reaction. A large increase of p53 *Arg/* Arg was observed in T1D patients with age at onset <6 years. A strong linear correlation between *Arg/* Arg genotype and age at onset was observed in females. The involvement of the *Arg/* Arg genotype in apoptosis suggests that during the autoimmune process leading to T1D, genetic factors that favor apoptosis may contribute to the onset of overt disease.

引用

页码：437 / 439

页数：3

共 18 条

[1] CODON-72 POLYMORPHISM OF THE TP53 GENE [J].

ARA, S ;

LEE, PSY ;

HANSEN, MF ;

SAYA, H .

NUCLEIC ACIDS RESEARCH, 1990, 18 (16) :4961-4961

[2]

Bitti MLM, 2010, J PEDIATR ENDOCR MET, V23, P291

[3] A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes [J].

Bottini, N ;

Musumeci, L ;

Alonso, A ;

Rahmouni, S ;

Nika, K ;

Rostamkhani, M ;

MacMurray, J ;

Meloni, GF ;

Lucarelli, P ;

Pellecchia, M ;

Eisenbarth, GS ;

Comings, D ;

Mustelin, T .

NATURE GENETICS, 2004, 36 (04) :337-338

[4] p53 codon 72 proline/arginine polymorphism and autoimmune thyroid diseases [J].

Chen, Rong-Hsing ;

Chang, Chwen-Tzuei ;

Wang, Tzu-Yuan ;

Huang, Wen-Liang ;

Tsai, Chang-Hai ;

Tsai, Fuu-Jen .

JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2008, 22 (05) :321-326

[5] Genetics of Type 1A Diabetes [J].

Concannon, Patrick ;

Rich, Stephen S. ;

Nepom, Gerald T. .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (16) :1646-1654

[6]

DELACALLEMARTIN O, 1990, NUCLEIC ACIDS RES, V18, P4963, DOI 10.1093/nar/18.16.4963

[7] Type 1 diabetes: recent developments [J].

Devendra, D ;

Liu, E ;

Eisenbarth, GS .

BMJ-BRITISH MEDICAL JOURNAL, 2004, 328 (7442) :750-754

[8] Diabetes and gender [J].

Gale, EAM ;

Gillespie, KM .

DIABETOLOGIA, 2001, 44 (01) :3-15

[9] Apoptosis of CD4+CD25high T Cells in Type 1 Diabetes May Be Partially Mediated by IL-2 Deprivation [J].

Jailwala, Parthav ;

Waukau, Jill ;

Glisic, Sanja ;

Jana, Srikanta ;

Ehlenbach, Sarah ;

Hessner, Martin ;

Alemzadeh, Ramin ;

Matsuyama, Shigemi ;

Laud, Purushottam ;

Wang, Xujing ;

Ghosh, Soumitra .

PLOS ONE, 2009, 4 (08)

[10] Differential levels of transcription of p53-regulated genes by the arginine/proline polymorphism: p53 with arginine at codon 72 favors apoptosis [J].

Jeong, Byeong-Seon ;

Hu, Wenwei ;

Belyi, Vladimir ;

Rabadan, Raul ;

Levine, Arnold J. .

FASEB JOURNAL, 2010, 24 (05) :1347-1353

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