Alpha-1-antitrypsin phenotypes in adult liver disease patients
Apstrakt
Alpha-1-antitrypsin (AAT) is an important serine protease inhibitor in humans. Hereditary alpha-1-antitrypsin deficiency (AATD) affects lungs and liver. Liver disease caused by AATD in paediatric patients has been previously well documented. However, the association of liver disease with alpha-1-antitrypsin gene polymorphisms in adults is less clear. Therefore, we aimed to study AAT polymorphisms in adults with liver disease. We performed a case-control study. AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma. The control group consisted of 218 healthy blood donors. A significant deviation of observed and expected frequency of AAT phenotypes from Hardy-Weinberg equilibrium (chi-square = 34.77, df 11, P = 0.000) in the patient group was caused by a higher than expected frequency of Pi ZZ homozygotes (f = 0.0143 and f = 0.0005, respectively, P = 0.000). In addition, Pi M homozygotes were more frequ...ent in patients than in controls (63% and 46%, respectively, P = 0.025). Our study results show that Pi ZZ homozygosity in adults could be associated with severe liver disease. Presence of Pi M homozygosity could be associated with liver disease via some mechanism different from Z allele-induced liver damage through accumulation of AAT polymers.
Ključne reči:
Adults / alpha-1-antitrypsin / liver disease / phenotypesIzvor:
Upsala Journal of Medical Sciences, 2009, 114, 4, 228-234Izdavač:
- Taylor & Francis Ltd, Abingdon
Finansiranje / projekti:
DOI: 10.3109/03009730903243472
ISSN: 0300-9734
PubMed: 19961268
WoS: 000273527100005
Scopus: 2-s2.0-72449131405
Institucija/grupa
PharmacyTY - JOUR AU - Topić, Aleksandra AU - Alempijević, Tamara AU - Sokić-Milutinović, Aleksandra AU - Kovačević, Nada PY - 2009 UR - https://farfar.pharmacy.bg.ac.rs/handle/123456789/1185 AB - Alpha-1-antitrypsin (AAT) is an important serine protease inhibitor in humans. Hereditary alpha-1-antitrypsin deficiency (AATD) affects lungs and liver. Liver disease caused by AATD in paediatric patients has been previously well documented. However, the association of liver disease with alpha-1-antitrypsin gene polymorphisms in adults is less clear. Therefore, we aimed to study AAT polymorphisms in adults with liver disease. We performed a case-control study. AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma. The control group consisted of 218 healthy blood donors. A significant deviation of observed and expected frequency of AAT phenotypes from Hardy-Weinberg equilibrium (chi-square = 34.77, df 11, P = 0.000) in the patient group was caused by a higher than expected frequency of Pi ZZ homozygotes (f = 0.0143 and f = 0.0005, respectively, P = 0.000). In addition, Pi M homozygotes were more frequent in patients than in controls (63% and 46%, respectively, P = 0.025). Our study results show that Pi ZZ homozygosity in adults could be associated with severe liver disease. Presence of Pi M homozygosity could be associated with liver disease via some mechanism different from Z allele-induced liver damage through accumulation of AAT polymers. PB - Taylor & Francis Ltd, Abingdon T2 - Upsala Journal of Medical Sciences T1 - Alpha-1-antitrypsin phenotypes in adult liver disease patients VL - 114 IS - 4 SP - 228 EP - 234 DO - 10.3109/03009730903243472 ER -
@article{ author = "Topić, Aleksandra and Alempijević, Tamara and Sokić-Milutinović, Aleksandra and Kovačević, Nada", year = "2009", abstract = "Alpha-1-antitrypsin (AAT) is an important serine protease inhibitor in humans. Hereditary alpha-1-antitrypsin deficiency (AATD) affects lungs and liver. Liver disease caused by AATD in paediatric patients has been previously well documented. However, the association of liver disease with alpha-1-antitrypsin gene polymorphisms in adults is less clear. Therefore, we aimed to study AAT polymorphisms in adults with liver disease. We performed a case-control study. AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma. The control group consisted of 218 healthy blood donors. A significant deviation of observed and expected frequency of AAT phenotypes from Hardy-Weinberg equilibrium (chi-square = 34.77, df 11, P = 0.000) in the patient group was caused by a higher than expected frequency of Pi ZZ homozygotes (f = 0.0143 and f = 0.0005, respectively, P = 0.000). In addition, Pi M homozygotes were more frequent in patients than in controls (63% and 46%, respectively, P = 0.025). Our study results show that Pi ZZ homozygosity in adults could be associated with severe liver disease. Presence of Pi M homozygosity could be associated with liver disease via some mechanism different from Z allele-induced liver damage through accumulation of AAT polymers.", publisher = "Taylor & Francis Ltd, Abingdon", journal = "Upsala Journal of Medical Sciences", title = "Alpha-1-antitrypsin phenotypes in adult liver disease patients", volume = "114", number = "4", pages = "228-234", doi = "10.3109/03009730903243472" }
Topić, A., Alempijević, T., Sokić-Milutinović, A.,& Kovačević, N.. (2009). Alpha-1-antitrypsin phenotypes in adult liver disease patients. in Upsala Journal of Medical Sciences Taylor & Francis Ltd, Abingdon., 114(4), 228-234. https://doi.org/10.3109/03009730903243472
Topić A, Alempijević T, Sokić-Milutinović A, Kovačević N. Alpha-1-antitrypsin phenotypes in adult liver disease patients. in Upsala Journal of Medical Sciences. 2009;114(4):228-234. doi:10.3109/03009730903243472 .
Topić, Aleksandra, Alempijević, Tamara, Sokić-Milutinović, Aleksandra, Kovačević, Nada, "Alpha-1-antitrypsin phenotypes in adult liver disease patients" in Upsala Journal of Medical Sciences, 114, no. 4 (2009):228-234, https://doi.org/10.3109/03009730903243472 . .