Multiple mucin genes polymorphisms are associated with gallstone disease in Chinese men

被引：10

作者：

Chuang, Shih-Chang ^{[1
,2
]}

Juo, Suh-Hang Hank ^{[3
,4
,5
]}

Hsi, Edward ^{[5
,6
]}

Wang, Shen-Nien ^{[1
,2
]}

Tsai, Pei-Chien ^{[3
]}

Yu, Ming-Lung ^{[2
,7
]}

Lee, King-Teh ^{[1
,2
]}

机构：

[1] Kaohsiung Med Univ Hosp, Dept Surg, Div Hepatobiliary Pancreat Surg, Kaohsiung 807, Taiwan

[2] Kaohsiung Med Univ, Fac Med, Coll Med, Kaohsiung, Taiwan

[3] Kaohsiung Med Univ, Dept Med Genet, Kaohsiung, Taiwan

[4] Kaohsiung Med Univ, Ctr Excellence Environm Med, Kaohsiung, Taiwan

[5] Kaohsiung Med Univ, Dept Med Res, Kaohsiung, Taiwan

[6] Kaohsiung Med Univ, Grad Inst Med, Coll Med, Kaohsiung, Taiwan

[7] Kaohsiung Municipal To Tung Hosp, Dept Internal Med, Kaohsiung, Taiwan

来源：

CLINICA CHIMICA ACTA | 2011年 / 412卷 / 7-8期

关键词：

Gallstone disease; Mucin gene; Single nucleotide polymorphism; HYPER-SECRETION; TFF PEPTIDES; GALLBLADDER; EXPRESSION; POPULATION; RISK; TAIWAN; EPIDEMIOLOGY; PATHOGENESIS; PATHWAY;

D O I：

10.1016/j.cca.2010.12.008

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Background: Gallstone is a complex disease caused by multiple environmental and genetic factors. One of these is mucin glycoproteins. This case-control study aimed to investigate the association between single nucleotide polymorphisms (SNPs) at the MUC1-4 genes and gallstone. Methods: The study included 475 cases and 941 controls. Eight tagging SNPs were selected: one at MUC1, two at MUC2, and five at MUC4. There was no available tagging SNP at MUD. Genetic effects were initially evaluated by multivariate logistic regression. The combined effects from multiple genes were further evaluated, as well as the sex-specific effect. Permutation was used to correct for multiple testing. Results: The genotypes were all in Hardy-Weinberg equilibrium. SNP rs7396030 at MUC2 yielded a p value of 0.03. Further sex-specific analysis showed significance solely with male subjects (p=0.005). Similarly, SNP rs4072037 at MUC1 was only significant (p=0.035) in males. The permutation empirical p values were 0.005 for rs7396030 and 0.02 for rs4072037. For males, the combined genetic effect yielded an OR of 4.68 (p=0.0008). Conclusions: The SNPs at MUC1 and MUC2 are significantly associated with gallstone in men but not in women. These genes can work jointly to further increase susceptibility to gallstone in a Chinese population. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：599 / 603

页数：5

共 47 条

[41] Evidence that gallbladder epithelial mucin enhances cholesterol cholelithogenesis in MUC1 transgenic mice [J].

Wang, Helen H. ;

Afdhal, Nezam H. ;

Gendler, Sandra J. ;

Wang, David Q. -H. .

GASTROENTEROLOGY, 2006, 131 (01) :210-222

[42] Barrett's esophagus is characterized by expression of gastric-type mucins (MUC5AC, MUC6) and TFF peptides (TFF1 and TFF2), but the risk of carcinoma development may be indicated by the intestinal-type mucin, MUC2 [J].

Warson, C ;

van de Bovenkamp, JHB ;

Korteland-Van Male, AM ;

Büller, HA ;

Einerhand, AWC ;

Ectors, NLEY ;

Dekker, J .

HUMAN PATHOLOGY, 2002, 33 (06) :660-668

[43] ANATOMY OF GALLSTONES [J].

WOMACK, NA ;

IRVIN, GL ;

ZEPPA, R .

ANNALS OF SURGERY, 1963, 157 (05) :670-&

[44]

WOMACK NA, 1971, SURG GYNECOL OBSTETR, V133, P937

[45] A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians [J].

Yang, Hsin-Chou ;

Lin, Chien-Hsin ;

Hsu, Chia-Ling ;

Hung, Shuen-Iu ;

Wu, Jer-Yuan ;

Pan, Wen-Harn ;

Chen, Yuan-Tsong ;

Fann, Cathy S. J. .

JOURNAL OF BIOMEDICAL SCIENCE, 2006, 13 (04) :489-498

[46] An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets [J].

Zeggini, E ;

Rayner, W ;

Morris, AP ;

Hattersley, AT ;

Walker, M ;

Hitman, GA ;

Deloukas, P ;

Cardon, LR ;

McCarthy, MI .

NATURE GENETICS, 2005, 37 (12) :1320-1322

[47] Lipopolysaccharide induces overexpression of MUC2 and MUC5AC in cultured biliary epithelial cells - Possible key phenomenon of hepatolithiasis [J].

Zen, Y ;

Harada, K ;

Sasaki, M ;

Tsuneyama, K ;

Katayanagi, K ;

Yamamoto, Y ;

Nakanuma, Y .

AMERICAN JOURNAL OF PATHOLOGY, 2002, 161 (04) :1475-1484

← 1 2 3 4 5 →