دورية أكاديمية
أعرض في EDS

Polymorphisms in UGT1A1 Gene Predispose South Indians to Pigmentous Gallstones.

التفاصيل البيبلوغرافية
العنوان: Polymorphisms in UGT1A1 Gene Predispose South Indians to Pigmentous Gallstones.
المؤلفون: Ravikanth VV; Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Rao GV; Asian Institute of Gastroenterology, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Govardhan B; Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Sasikala M; Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Subramanyam C; Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Vivekananda Murthy HV; Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Siva Prasad S; Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Deepika G; Asian Institute of Gastroenterology, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Pradeep R; Asian Institute of Gastroenterology, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India., Nageshwar Reddy D; Asian Institute of Gastroenterology, 6-3-661, Somajiguda, Hyderabad 500082 Telangana, India.
المصدر: Journal of clinical and experimental hepatology [J Clin Exp Hepatol] 2016 Sep; Vol. 6 (3), pp. 216-223. Date of Electronic Publication: 2016 Aug 30.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: India NLM ID: 101574137 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0973-6883 (Print) Linking ISSN: 09736883 NLM ISO Abbreviation: J Clin Exp Hepatol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Gurgaon, India : Elsevier, 2011-
مستخلص: Background/objectives: Pigmentous gallstones occur in South Indians despite significant higher levels of circulating cholesterol. This study was conducted to identify the biochemical and/or genetic causes for the formation of pigmentous gallstones in this ethnic group.
Methods: Plasma lipid profile, bile cholesterol, acids, and phospholipid levels were estimated in patients with gall stone disease and age, sex matched controls using standard protocols. Twenty-seven SNPs related to cholesterol and bilirubin metabolism pathway genes were genotyped in the study population using the Sequenom platform. An equilibrium phase diagram involving bile salt-phospholipid-cholesterol was generated to relate phenotype with the genotype.
Results: There were no significant differences in the lipid profiles between the patients ( n  = 305) and controls ( n  = 177). Biliary cholesterol, acids, and phospholipids were significantly different between patients and controls. Single locus analysis revealed association of variants in ABCG6, ABCG8 , and UGT1A1 genes with the disease; however when correction was applied as multiple testing was done, only one variant (rs6742078) in UGT1A1 gene was found to be associated with gall stone disease. Equilibrium phase diagram suggested that few samples were in the crystal formation zone. The mutant, but not wild type or heterozygous genotype of SNPs (rs6742078 and rs887829) in UGT1A1 gene, was associated with significantly higher levels of bilirubin.
Conclusions: Higher incidence of pigment stones in South Indians could be due to raised serum bilirubin levels that may be ascribed to variant in the UGT1A1 gene involved in glucuronidation of free bilirubin.
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فهرسة مساهمة: Keywords: ABCG, 8 ATP-binding cassette, sub-family G (WHITE), member 8; ABCG6, ATP-binding cassette protein subfamily G, member 6; DNA, deoxyribose nucleic acid; GSD, gallstone disease; HDL, high density lipoprotein; LDL, low density lipoprotein; OR, odds ratio; PXR, pregnane C receptor; SD, standard deviation; SNPs, single nucleotide polymorphisms; UGT1A1 gene; UGT1A1, UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1); bilirubin; cholesterol gall stones; pigmentous gall stones; polymorphisms
تواريخ الأحداث: Date Created: 20161018 Latest Revision: 20220330
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC5052425
DOI: 10.1016/j.jceh.2016.08.004
PMID: 27746618
قاعدة البيانات: MEDLINE
الوصف
تدمد:0973-6883
DOI:10.1016/j.jceh.2016.08.004