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Association of X‐prolyl aminopeptidase 1 rs17095355 polymorphism with biliary atresia in Thai children
Author(s) -
Kaewkiattiyot Sarannut,
Honsawek Sittisak,
Vejchapipat Paisarn,
Chongsrisawat Voranush,
Poovorawan Yong
Publication year - 2011
Publication title -
hepatology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.123
H-Index - 75
eISSN - 1872-034X
pISSN - 1386-6346
DOI - 10.1111/j.1872-034x.2011.00870.x
Subject(s) - genotype , allele , allele frequency , biology , genotype frequency , biliary atresia , polymorphism (computer science) , genetics , gastroenterology , single nucleotide polymorphism , medicine , gene , transplantation , liver transplantation
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.