[Association of single nucleotide polymorphism in human CYP8B1 gene with gallstone disease].

Abstract

OBJECTIVE:

To identify the single nucleotide polymorphisms of human CYP8B1gene and explore the association of some of these SNPs with gallstone disease in Chinese population.

METHODS:

The exon and part of promoter were sequenced by a fluorescent labeling automatic method to identify and characterize the SNPs in Chinese population. For SNPs with an allelic frequency of over 10%, a case-control study was performed in patients and controls.

RESULTS:

Eleven SNPs were found within a 5119 bp region. Among them, 1 was in coding region, 5 in promoter and 5 in 3'-UTR. There were 3 novel SNPs and 12 SNPs in SNP database were not found. The allelic frequency of rs3732860 polymorphism showed a significant difference (P = 0.022) in the association study. The subjects with A allele had a significantly lower frequency of gallstone disease than those with G allele (OR = 1.465, 95%CI 1.055 - 2.034, P = 0.023).

CONCLUSION:

SNP rs3732860 of CYP8B1 gene is associated with gallstone disease in Chinese population. And A allele may play a protective role in the pathogenesis of gallstone.

• Authors: Jian Qin, Zhao-yan Jiang, Zhen-min Niu, Kai-yue Zhang, Qi Hua, Zhi-hong Jiang, Yi Wang, Wei Huang, Tian-quan Han, Sheng-dao Zhang
• Journal: Zhonghua yi xue za zhi (Zhonghua Yi Xue Za Zhi) Vol. 91 Issue 30 Pg. 2092-5 (Aug 16 2011) ISSN: 0376-2491 [Print] China
• PMID: 22093981 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Steroid 12-alpha-Hydroxylase

Topics

• Adult
• Aged
• Alleles
• Asian People (genetics)
• Base Sequence
• Case-Control Studies
• Exons
• Female
• Gallstones (etiology, genetics)
• Gene Frequency
• Humans
• Male
• Middle Aged
• Polymorphism, Single Nucleotide
• Steroid 12-alpha-Hydroxylase (genetics)