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Helen Hobbs, Nature Genetics V40, pp 1461, 2008


Association between a sequence variant in PNPLA3 (rs738409)

and hepatic triglyceride content. (a) PNPLA3 is a 481-residue protein that

contains a patatin-like domain at the N terminus with consensus sequences

for a Ser-Asp catalytic dyad (Gly-X-Ser-X-Gly and Asp-X-Gly/Ala)14.

The I148M substitution (rs738409) is located between the consensus

sequences for the catalytic dyad and is highly conserved.


Identification of a PNPLA3 allele (rs6006460, encoding

S453I) associated with lower hepatic fat content in African Americans in

the Dallas Heart Study. (a) Exons and flanking introns of PNPLA3 were

sequenced in the 32 European American and 32 African American men

and women and in the 16 Hispanic men and women with the lowest and

highest hepatic triglyceride (TG) content determined using proton magnetic

resonance imaging2. The substitutions encoded by the nonsynonymous

variations identified in individuals in only the high, only the low and in

both the high and low groups are shown. All the variants not found in both

groups were present in only a single subject unless otherwise indicated

by a number in parentheses.The rs numbers for polymorphisms and the

oligonucleotides used for PCR-sequencing of the coding regions are

provided in Supplementary Tables