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
ARA, S
LEE, PSY
HANSEN, MF
SAYA, H
[J]. 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
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
[J]. NATURE GENETICS, 2004, 36 (04) : 337 - 338
[4] p53 codon 72 proline/arginine polymorphism and autoimmune thyroid diseases
Chen, Rong-Hsing
Chang, Chwen-Tzuei
Wang, Tzu-Yuan
Huang, Wen-Liang
Tsai, Chang-Hai
Tsai, Fuu-Jen
[J]. JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2008, 22 (05) : 321 - 326
[5] Genetics of Type 1A Diabetes
Concannon, Patrick
Rich, Stephen S.
Nepom, Gerald T.
[J]. 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
Devendra, D
Liu, E
Eisenbarth, GS
[J]. BMJ-BRITISH MEDICAL JOURNAL, 2004, 328 (7442): : 750 - 754
[8] Diabetes and gender
Gale, EAM
Gillespie, KM
[J]. 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
Jailwala, Parthav
Waukau, Jill
Glisic, Sanja
Jana, Srikanta
Ehlenbach, Sarah
Hessner, Martin
Alemzadeh, Ramin
Matsuyama, Shigemi
Laud, Purushottam
Wang, Xujing
Ghosh, Soumitra
[J]. 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
Jeong, Byeong-Seon
Hu, Wenwei
Belyi, Vladimir
Rabadan, Raul
Levine, Arnold J.
[J]. FASEB JOURNAL, 2010, 24 (05) : 1347 - 1353

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