Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: Non-invasive elastography-based study in chronic liver disease

The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis

“…All seven studies included in the meta-analysis were in HWE. Call rates were reported in three studies and were 99%, 100%, and 98.7%, respectively (20)(21)(22).…”

“…For Tian et al ( 22 ), the numbers of patients with the CC, GC, and GG genotypes were 59, 264, and 371, respectively, in the cirrhosis group and 83, 198, and 11 in the control group. G was the minor allele in six of the seven studies ( 20,(23)(24)(25)37 ), with frequencies ranging from 32.3% to 42.5%. In the study reported by Tian et al ( 22 ), C was the minor allele at a frequency of 27.5%.…”

“…Of the 12 remaining studies, 2 were excluded due to lack of details of subjects needed for the analysis, another 2 did not have a suitable control arm, and 1 contained preliminary unpublished data. A total of seven studies were included; all were prospective in design (20)(21)(22)(23)(24)(25)37 ).…”

“…Four of the studies included subjects of Caucasian race ( 21,(23)(24)(25), while one each included subjects who were North Indian ( 37 ) and Mestizo Mexican ( 22 ), respectively. The study reported by Krawczyk et al ( 20 ) did not include information on race, although all subjects were noted to be "European individuals." Across all seven studies, most subjects were male, and ages ranged from 33 to 57 years.…”

A genetic variant in the promoter of phosphate‐activated glutaminase is associated with hepatic encephalopathy

“…Patients with liver cirrhosis were included in the study if their disease had been confirmed by histology or transient elastography (FibroScan; Echosens, Paris, France). The transient elastography technique has been described previously [27]. A transient elastography score >13 kPa is indicative of cirrhosis [28].…”