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Single nucleotide polymorphism rs3732860 in the 3′-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese

Authors


Correspondence

Professor Tian-Quan Han, Shanghai Institute of Digestive Surgery, Department of Surgery, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 197 Ruijin Second Road, Shanghai 200025, China. Dr Wei Huang, Chinese National Human Genome Center at Shanghai, 250 Bi Bo Road, Shanghai 201203, China. Email: digsurgrj@yahoo.com.cn; huangwei@chgc.sh.cn

Abstract

Background and Aims

Gallstone disease (GD) is a common disease of multigenetic origin; however, the major susceptibility loci for GD in human populations remain unidentified. This study aimed to identify the genetic factors contributing to gallstone development in Chinese.

Methods

A genome-wide scan was conducted in 12 Han Chinese GD families to identify linkage loci. The linkage region showing the highest logarithm of odds score encompasses the sterol 12α-hydroxylase gene (CYP8B1). Replication analysis with an independent sample of 192 GD patients and 192 unrelated, matched controls was carried out to verify the associations between CYP8B1 polymorphisms and GD.

Results

Three loci (D3S1266, D4S406, and D9S1682) showed suggestive or nominal evidence of linkage in all 12 GD families. The logarithm of odds score of D3S1266 reached 2.71 in the families with late-onset patients. The single nucleotide polymorphism rs3732860 in the 3′-untranslated region of CYP8B1 showed significant association to GD (P = 0.022), and carriers of the A allele had lower risk of GD (odds ratio = 1.46, 95% confidence interval: 1.055–2.034) compared with carriers of the G allele.

Conclusions

The single nucleotide polymorphism rs3732860 in the 3′-untranslated region of the CYP8B1 gene is associated with risk of GD in Chinese Han and appears to be responsible for the observed linkage with D3S1266.

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