Sa1560 PROTEIN TRUNCATING SPLICE VARIANT (RS72613567) IN HSD17B13 GENE DOES NOT CONFER PROTECTION TO NAFLD IN INDIAN POPULATION

Bale, Govardhan; Kanth, Ravi; Sasikala, M.; Pn, Rao; Sharma, Mithun; Da, Pramod; Kulkarni, Anand V.; Duvvur, Nageshwar R.

doi:10.1016/s0016-5085(20)31571-7

Cited by 2 publications

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“…Previously, a large study reported that loss-of-function variant in HSD17B13 was associated with a reduced risk of chronic liver disease and progression from steatosis to steatohepatitis. However, when the same was tested across the Indian population, no protection was offered in the subset of patients carrying the same splice variant (5). In conclusion, the current study is unique and, for the first time, highlights the importance of genetic factors and the presence of diabetes as the most important predictor of the development of cirrhosis due to alcohol misuse.…”

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confidence: 86%

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A Genetic Risk Score and Diabetes Predict the Development of Alcohol-Related Cirrhosis in Drinkers!

2022

Journal of Clinical and Experimental Hepatology

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Section: Commentsmentioning

confidence: 86%

“…In the last decade, the historic STOPAH trial and subsequent meta-analysis have validated the use of corticosteroids in reducing 28-day mortality in sAH. 4,5 However, a…”

Section: Commentsmentioning

confidence: 99%

A Genetic Risk Score and Diabetes Predict the Development of Alcohol-Related Cirrhosis in Drinkers!

2022

Journal of Clinical and Experimental Hepatology

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“…10 Apart from the approach (GWAS and whole exome sequencing), the other compounding issue in identifying reliable genetic variants to complex disease is ethnic variation predominantly because of the lack of representation of varied ethnic samples in large GWAS. 11 Studies from our lab have shown that the protein truncating splice variant (rs72613567:TA) in HSD17B13 gene does not confer protection against NAFLD 12 and the risk variant (rs738409) in PNPLA3 gene is not associated with metabolic syndrome, 13 suggesting the role of other genetic loci. There are limited studies reported from the Indian ethnicity that evaluated genetic susceptibility for NAFLD at a global genome-wide level.…”

Section: Introductionmentioning

confidence: 99%

Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach

Bale,

Kulkarni,

Padaki

et al. 2023

J of Gastro and Hepatol

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Background/PurposeGenome‐wide association studies have reported the association of common variants with nonalcoholic fatty liver disease in genes, namely, PNPLA3/TM6SF2/MBOAT7/HSD17B13, across ethnicities. However, the approach does not identify rarer variants with a higher effect size. We therefore sequenced the complete exonic regions of patients with nonalcoholic steatohepatitis and controls to compare rare and common variants with a role in the pathogenesis.MethodsThis is a prospective study that recruited 54 individuals with/without fatty infiltration. Patients with biopsy‐proven nonalcoholic steatohepatitis and persistently elevated liver enzymes were included. Controls were with normal CT/MR fat fraction. DNA was isolated from whole blood, amplified (SureSelectXT Human All Exon V5 + UTR kit) and sequenced (Illumina). Data were filtered for quality, aligned (hg19), and annotated (OpenCRAVAT). Pathogenic (Polyphen‐2/SIFT/ClinVar) variants and variants reported to be associated with NAFLD based on published literature were extracted from our data and compared between patients and controls.ResultsThe mean age of controls (N = 17) and patients (N = 37) was 46.88 ± 6.94 and 37.46 ± 13.34 years, respectively. A total of 251 missense variants out of 89 286 were classified as pathogenic. Of these, 106 (42.23%) were unique to the patients and remaining (n = 145; 57.77%) were found in both patients and controls. Majority (25/37; 67.57%) patients had a minimum of one or more rare pathogenic variant(s) related to liver pathology that was not seen in the controls.ConclusionElucidating the contribution of rare pathogenic variants would enhance our understanding of the pathogenesis. Including the rarer genes in the polygenic risk scores would enhance prediction power.

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Sa1560 PROTEIN TRUNCATING SPLICE VARIANT (RS72613567) IN HSD17B13 GENE DOES NOT CONFER PROTECTION TO NAFLD IN INDIAN POPULATION

Cited by 2 publications

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A Genetic Risk Score and Diabetes Predict the Development of Alcohol-Related Cirrhosis in Drinkers!

A Genetic Risk Score and Diabetes Predict the Development of Alcohol-Related Cirrhosis in Drinkers!

Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach

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