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LPIN1 rs13412852 Polymorphism in Pediatric Nonalcoholic Fatty Liver Disease
被引:58
作者:

Valenti, Luca
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机构:
Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Motta, Benedetta Maria
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机构:
Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Alisi, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Childrens Hosp & Res Inst, Rare Dis Unit, Liver Unit, Rome, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Sartorelli, Rita
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机构:
Bambino Gesu Childrens Hosp & Res Inst, Rare Dis Unit, Liver Unit, Rome, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Buonaiuto, Giulia
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机构:
Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Dongiovanni, Paola
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机构:
Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Rametta, Raffaela
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机构:
Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Pelusi, Serena
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机构:
Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Fargion, Silvia
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h-index: 0
机构:
Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy

Nobili, Valerio
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h-index: 0
机构:
Bambino Gesu Childrens Hosp & Res Inst, Rare Dis Unit, Liver Unit, Rome, Italy Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy
机构:
[1] Univ Milan, Dept Internal Med, Osped Maggiore Policlin Ca Granda IRCCS, Milan, Italy
[2] Bambino Gesu Childrens Hosp & Res Inst, Rare Dis Unit, Liver Unit, Rome, Italy
关键词:
dyslipidemia;
lipin1;
liver fibrosis;
nonalcoholic fatty liver disease;
steatosis;
INSULIN-RESISTANCE;
FIBROSIS;
ASSOCIATION;
MUTATIONS;
DAMAGE;
STEATOHEPATITIS;
METABOLISM;
SEVERITY;
CHILDREN;
FAMILY;
D O I:
10.1097/MPG.0b013e3182442a55
中图分类号:
R57 [消化系及腹部疾病];
学科分类号:
摘要:
Objectives: The aim of the present study was to evaluate whether the lipin1 rs13412852 C>T polymorphism is associated with nonalcoholic steatohepatitis and fibrosis in pediatric Italian patients with nonalcoholic fatty liver disease (NAFLD). Methods: A total of 142 untreated, consecutive children and 115 adults with biopsy-proven NAFLD and 337 healthy controls without steatosis were studied. Liver histology was assessed by the NAFLD activity score and the rs13412852 polymorphism by a 50 nuclease Taqman assay. Results: Homozygosity for the rs13412852 T allele was underrepresented in pediatric, but not adult, patients with NAFLD compared with healthy controls (7% vs 14%; odds ratio [OR] 0.58, 95% confidence interval [CI] 0.35-0.91), and it was associated with lower triglycerides both in pediatric patients and healthy controls (P <= 0.01). Affected children carrying the rs13412852 TT genotype had a trend for a lower prevalence of nonalcoholic steatohepatitis, and significantly less severe liver damage, as indicated by NAFLD activity score severity (P = 0.026) and a lower prevalence of liver fibrosis (P = 0.012). The negative association between rs13412852 TT genotype and fibrosis was independent of Patatin-like phospholipase domain-containing-3 genotype and other clinical risk factors, including age, waist circumference, the presence of hyperglycemia, and alanine transaminase levels (OR 0.29; 95% CI 0.11-0.66), and it was confirmed at multivariate analysis in adults (OR 0.15; 95% CI 0.02-0.67). Conclusions: Lipin1 rs13412852 single nucleotide polymorphism is associated with the severity of liver damage and fibrosis progression in pediatric patients with histological NAFLD.
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页码:588 / 593
页数:6
相关论文
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Bambino Gesu Pediat Hosp, Unit Metab & Autoimmune Liver Dis, I-00165 Rome, Italy
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h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Dept Clin Biochem, Cambridge CB2 2QQ, England Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England

Syddall, Holly
论文数: 0 引用数: 0
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机构:
Univ Southampton, Med Res Council Epidemiol Resource Ctr, Southampton, Hants, England Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England

Cooper, Cyrus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Southampton, Med Res Council Epidemiol Resource Ctr, Southampton, Hants, England Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England

Siniossoglou, Symeon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge, England Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England

O'Rahilly, Stephen
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h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Dept Clin Biochem, Cambridge CB2 2QQ, England Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England

Wareham, Nicholas J.
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机构:
Inst Metab Sci, Med Res Council Epidemiol Unit, Cambridge, England Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England

Barroso, Ines
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Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England Wellcome Trust Sanger Inst, Metab Dis Grp, Hinxton, Cambs, England
[10]
Ethnic Differences in Hepatic Steatosis: An Insulin Resistance Paradox?
[J].
Guerrero, Richard
;
Vega, Gloria L.
;
Grundy, Scott M.
;
Browning, Jeffrey D.
.
HEPATOLOGY,
2009, 49 (03)
:791-801

Guerrero, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas SW Med Ctr Dallas, Adv Imaging Res Ctr, Dallas, TX 75390 USA
Univ Texas SW Med Ctr Dallas, Dept Internal Med, Dallas, TX 75390 USA Univ Texas SW Med Ctr Dallas, Adv Imaging Res Ctr, Dallas, TX 75390 USA

Vega, Gloria L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas SW Med Ctr Dallas, Ctr Human Nutr, Dallas, TX 75390 USA
Univ Texas SW Med Ctr Dallas, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA Univ Texas SW Med Ctr Dallas, Adv Imaging Res Ctr, Dallas, TX 75390 USA

Grundy, Scott M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas SW Med Ctr Dallas, Ctr Human Nutr, Dallas, TX 75390 USA
Univ Texas SW Med Ctr Dallas, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Vet Affairs Med Ctr, Dallas, TX USA Univ Texas SW Med Ctr Dallas, Adv Imaging Res Ctr, Dallas, TX 75390 USA

Browning, Jeffrey D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas SW Med Ctr Dallas, Adv Imaging Res Ctr, Dallas, TX 75390 USA
Univ Texas SW Med Ctr Dallas, Dept Internal Med, Dallas, TX 75390 USA Univ Texas SW Med Ctr Dallas, Adv Imaging Res Ctr, Dallas, TX 75390 USA