Variant in PNPLA3 is associated with alcoholic liver disease

被引：352

作者：

Tian, Chao ^{[1
]}

Stokowski, Renee P. ^{[1
]}

Kershenobich, David ^{[2
]}

Ballinger, Dennis G. ^{[1
,3
]}

Hinds, David A. ^{[1
]}

机构：

[1] Perlegen Sci, Mountain View, CA USA

[2] Univ Nacl Autonoma Mexico, Fac Med, Dept Expt Med, Mexico City 04510, DF, Mexico

[3] Complete Genom, Mountain View, CA USA

来源：

NATURE GENETICS | 2010年 / 42卷 / 01期

关键词：

ADIPONUTRIN; AMERICANS; CIRRHOSIS; RISK;

D O I：

10.1038/ng.488

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two genome-wide association studies (GWAS) have described associations of variants in PNPLA3 with nonalcoholic fatty liver and plasma liver enzyme levels. We investigated the contributions of these variants to liver disease in Mestizo subjects with a history of alcohol dependence. We found that rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted OR = 2.25, P = 1.7 x 10(-10); ancestry-adjusted OR = 1.79, P = 1.9 x 10(-5)).

引用

收藏

页码：21 / 23

页数：3

相关论文

共 15 条

[1] Adiponutrin, a transmembrane protein corresponding to a novel dietary- and obesity-linked mRNA specifically expressed in the adipose lineage [J].

Baulande, S ;

Lasnier, F ;

Lucas, M ;

Pairault, J .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (36) :33336-33344

[2] Risk Factors for Chronic Liver Disease in Blacks, Mexican Americans, and Whites in the United States: Results From NHANES IV, 1999-2004 [J].

Flores, Yvonne N. ;

Yee, Hal F., Jr. ;

Leng, Mei ;

Escarce, Jose J. ;

Bastani, Roshan ;

Salmeron, Jorge ;

Morales, Leo S. .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2008, 103 (09) :2231-2238

[3] Matching strategies for genetic association studies in structured populations [J].

Hinds, DA ;

Stokowski, RP ;

Patil, N ;

Konvicka, K ;

Kershenobich, D ;

Cox, DR ;

Ballinger, DG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (02) :317-325

[4]

Hoyumpa A, 2005, HEPATOLOGY, V42, p442A

[5] A 7 gene signature identifies the risk of developing cirrhosis in patients with chronic hepatitis C [J].

Huang, Honjin ;

Shiffman, Mitchefl L. ;

Friedman, Scott ;

Venkatesh, Ramasubbu ;

Bzowej, Natatie ;

Abar, Ohvia T. ;

Rowland, Charles M. ;

Catanese, Joseph J. ;

Leong, Diane U. ;

Sninsky, John J. ;

Layden, Thomas J. ;

Wright, Teresa L. ;

White, Thomas ;

Cheung, Ramsey C. .

HEPATOLOGY, 2007, 46 (02) :297-306

[6] Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities [J].

Jenkins, CM ;

Mancuso, DJ ;

Yan, W ;

Sims, HF ;

Gibson, B ;

Gross, RW .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (47) :48968-48975

[7] A common variant in the adiponutrin gene influences liver enzyme values [J].

Kollerits, Barbara ;

Coassin, Stefan ;

Kiechl, Stefan ;

Hunt, Steven C. ;

Paulweber, Bernhard ;

Willeit, Johann ;

Brandstaetter, Anita ;

Lamina, Claudia ;

Adams, Ted D. ;

Kronenberg, Florian .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (02) :116-119

[8] A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans [J].

Kotronen, A. ;

Johansson, L. E. ;

Johansson, L. M. ;

Roos, C. ;

Westerbacka, J. ;

Hamsten, A. ;

Bergholm, R. ;

Arkkila, P. ;

Arola, J. ;

Kiviluoto, T. ;

Fisher, R. M. ;

Ehrenborg, E. ;

Orho-Melander, M. ;

Ridderstrale, M. ;

Groop, L. ;

Yki-Jarvinen, H. .

DIABETOLOGIA, 2009, 52 (06) :1056-1060

[9]

Mann RE, 2003, ALCOHOL RES HEALTH, V27, P209

[10] TRANSECTION OF ESOPHAGUS FOR BLEEDING ESOPHAGEAL VARICES [J].

PUGH, RNH ;

MURRAYLY.IM ;

DAWSON, JL ;

PIETRONI, MC ;

WILLIAMS, R .

BRITISH JOURNAL OF SURGERY, 1973, 60 (08) :646-649