Polymorphisms in UGT1A1 Gene Predispose South Indians to Pigmentous Gallstones

Vishnubhotla, Ravikanth; Rao, Guduru Venkat; Govardhan, Bale; Sasikala, Mitnala; Subramanyam, Chakrapani; Murthy, H. V. V.; Prasad, S Siva; Deepika, G.; Rebala, Pradeep; Reddy, D. Nageshwar

doi:10.1016/j.jceh.2016.08.004

Cited by 9 publications

(5 citation statements)

References 27 publications

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“…The authors conclude that this was possibly due to high level of serum bilirubin that may be due to the UGT1A1 gene involved in glucuronidation of free bilirubin. 5 Our study too had higher percentage of pigment stones which indicates that pigment stones predominate in South Indian population. Moreover, the previous studies were not from on cadavers.…”

Section: Discussionsupporting

confidence: 46%

A South Indian Cadaveric Study on the Prevalence of Gallstones

Satheesha

Soumya

2020

Kathmandu Univ. Med. J.

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Background Gallstone disease (GSD) is one among the most prevalent diseases that affects approximately 10-15% of the population. It is associated with many other diseases like gallbladder cancer, renal stones, atherosclerosis, coronary heart disease and stroke. Objective Objective of this study is to document the prevalence of gallstones among south Indian cadavers. Method One hundred and twenty three South Indian cadaveric livers/gallbladders were observed for the presence of gallstones. The age range was 40 to 70 years. The gallbladders were palpated to know the presence of stones. They were then dissected and the stones were classified based on appearance. Gall bladder walls were also observed to know the associated fibrosis. Result Among the cadavers studied, 0.81% possessed cholesterol stones and 4.06% had pigment stones. Among the stones, 83.33% were pigment stones and 16.66% were cholesterol stones. Conclusion Compared to the western countries and north Indian studies, the prevalence of gallstone disease is low in the south Indian population (4.87%). The low prevalence was probably due to the low socioeconomic status and the diet and lifestyle.

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Section: Discussionsupporting

confidence: 46%

A South Indian Cadaveric Study on the Prevalence of Gallstones

Satheesha

Soumya

2020

Kathmandu Univ. Med. J.

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“…18 Cholelithiasis risk is partially mediated by genes impacting bilirubin metabolism, 19,20 and earlier studies from our lab have identified the association of a variant in UGT1A1 gene with pigment gallstone disease in South Indian population. 21 Previous studies reported coexistence of gallstones with Gilbert's Syndrome. [22][23][24][25] In the present study we report the coexistence of gallstone disease in Indian patients affected with Gilbert syndrome.…”

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confidence: 99%

Incidence and Risk of Gallstone Disease in Gilbert's Syndrome Patients in Indian Population

Bale

Avanthi

Padaki

et al. 2018

Journal of Clinical and Experimental Hepatology

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“…Two meta-analysis studies have shown that rs4148323 polymorphism is a risk factor of developing neonatal hyperbilirubinemia in the Asian population, but not in the Caucasian population [21,29]. For rs887829 polymorphism, one case-control study showed it reduces the risk of neonatal hyperbilirubinemia[18], but no association was observed with risks of endometrial cancer and gallstone [19,30].…”

Section: Discussionmentioning

confidence: 99%

“…No signi cant association with progression-free survival or overall survival was observed with rs3755319 polymorphism in irinotecan-treated colorectal cancer patients [31]. As for rs6742078, it reduces the risk of new-onset type 2 diabetes in a Dutch population [20], but increases gallstone risk in German and Indian populations [30,32]. As for rs6717546, a retrospective case control study found it is likely a protective factor against neonatal hyperbilirubinemia [18].…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in Gene UGT1A1 Modify the Association of Prenatal Exposure to Polycyclic Aromatic Hydrocarbons With Congenital Heart Diseases Risk

Tao¹,

Li²,

Liu³

et al. 2021

Preprint

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Background: Previous studies have focused on the effect of polycyclic aromatic hydrocarbons (PAHs) exposure on the risk of congenital heart diseases (CHDs), but generated inconsistent conclusions. Genetic susceptibility to PAHs metabolism may modify the exposure-risk relationship. Methods: Maternal urinary biomarker of PAHs exposure was determined in 357 pregnant women with CHDs fetuses and 270 pregnant women with controls. Maternal genotyping was conducted in UGT1A1 (rs3755319, rs887829, rs4148323, rs6742078, rs6717546). Unconditional logistic regression was performed to determine the impacts of UGT1A1 polymorphisms on the risks of CHDs and its subtypes. Generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene-gene and gene-PAHs exposure interactions. Results: None of the selected UGT1A1 polymorphisms were independently associated with the risk of CHDs. The interaction between rs4148323 and PAHs exposure was observed to be associated with CHDs (p<0.05). Pregnant women with high-levels PAHs exposure and carrying rs4148323 increased the risk of CHDs (GA-AA: aOR =2.00, 95% CI = 1.06-3.79). Moreover, the joint effect of rs4148323 and PAHs exposure was found to be significantly associated with risks of septal defects, conotruncal heart defects and right-sided obstructive malformations. Conclusions: Maternal genetic variation of UGT1A1 rs4148323 may modify the impact of prenatal PAHs exposure on CHDs risk. This finding needs to be further confirmed in a larger scale study.

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Polymorphisms in UGT1A1 Gene Predispose South Indians to Pigmentous Gallstones

Cited by 9 publications

References 27 publications

A South Indian Cadaveric Study on the Prevalence of Gallstones

A South Indian Cadaveric Study on the Prevalence of Gallstones

Incidence and Risk of Gallstone Disease in Gilbert's Syndrome Patients in Indian Population

Polymorphisms in Gene UGT1A1 Modify the Association of Prenatal Exposure to Polycyclic Aromatic Hydrocarbons With Congenital Heart Diseases Risk

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