Association of X-prolyl aminopeptidase 1 rs17095355 polymorphism with biliary atresia in Thai children
Article first published online: 25 NOV 2011
© 2011 The Japan Society of Hepatology
Volume 41, Issue 12, pages 1249–1252, December 2011
How to Cite
Kaewkiattiyot, S., Honsawek, S., Vejchapipat, P., Chongsrisawat, V. and Poovorawan, Y. (2011), Association of X-prolyl aminopeptidase 1 rs17095355 polymorphism with biliary atresia in Thai children. Hepatology Research, 41: 1249–1252. doi: 10.1111/j.1872-034X.2011.00870.x
- Issue published online: 25 NOV 2011
- Article first published online: 25 NOV 2011
- Received 11 May 2011; revision 28 June 2011; accepted 5 July 2011.
- Biliary atresia;
- X-prolyl aminopeptidase 1 (XPNPEP1)
Aim: To investigate XPNPEP1 rs17095355 polymorphism in biliary atresia (BA) patients and to determine whether there is an association between XPNPEP1 gene polymorphism and susceptibility to BA in a Thai population.
Methods: A total of 124 cases of BA and 114 controls were genotyped for XPNPEP1 rs17095355 polymorphism. The XPNPEP1 rs17095355 C/T genotype was determined by polymerase chain reaction (PCR) and direct sequencing. Allele and genotype frequencies were established by directed counting from the sequences.
Results: Genotype distributions for the XPNPEP1 rs17095355 polymorphism tested were in Hardy–Weinberg equilibrium for both control and study groups. There were no significant differences in genotype and allele frequencies of the single nucleotide polymorphism between controls and Thai children with BA. Genotype frequencies of rs17095355 of T/T in BA were higher than those of controls (34.68% and 16.67%, P < 0.002). Also, the T allele frequencies of BA were higher than those of controls (56.85% and 42.98%, P < 0.003).
Conclusion: The association between XPNPEP1 rs17095355 polymorphism and BA has been demonstrated, particularly with the T allele. We hypothesize that the XPNPEP1 rs17095355 polymorphism confers increased susceptibility to the disease.