US2010056384A1PendingUtilityA1
Sequence Variations in PNPLA3 Associated with Hepatic Steatosis
Est. expirySep 4, 2028(~2.1 yrs left)· nominal 20-yr term from priority
C12Q 2600/172C12Q 2600/156C12Q 1/6883
66
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Claims
Abstract
Disclosed are methods of identifying a genetic variant in a person determined to have or be predisposed having a fatty liver by determining whether the person has PNPLA3-I148M. Also disclosed are methods of identifying a genetic variant in a person by determining whether the person has PNPLA3-I148M; and prescribing to the person a treatment to reduce liver fat or associated inflammation.
Claims
exact text as granted — not AI-modified1 . A method of identifying a genetic variant in a person determined to have or be predisposed to having a liver disease selected from fatty liver, an increase in hepatic fat, hepatic steatosis, nonalcoholic fatty liver disease, and associated inflammation, the method comprising:
(a) determining whether the person has PNPLA3-I148M.
2 . The method of claim 1 further comprising the step of (b) determining whether the person has PNPLA3-S453I.
3 . The method of claim 1 wherein the determining step (a) comprises detecting using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, a marker of PNPLA3-I148M that is SNP rs738408, or a surrogate SNP in linkage disequilibrium with the PNPLA3-I148M and having a r 2 value greater than 0.5, wherein the surrogate SNP is selected from:
rs12483959,
rs1977081,
rs2072905,
rs1010022,
rs11090617,
rs1883349,
rs2896019,
rs926633,
rs4823173,
rs2281135,
rs2073081,
rs2294916, and
rs2076211,
rs2072907,
rs1010023,
rs4823179.
4 . The method of claim 2 wherein the determining step (a) comprises detecting using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, a marker of PNPLA3-I148M that is SNP rs738408, or a surrogate SNP in linkage disequilibrium with the PNPLA3-I148M and having a r 2 value greater than 0.5, wherein the surrogate SNP is selected from:
rs12483959,
rs1977081,
rs2072905,
rs1010022,
rs11090617,
rs1883349,
rs2896019,
rs926633,
rs4823173,
rs2281135,
rs2073081,
rs2294916, and
rs2076211,
rs2072907,
rs1010023,
rs4823179.
5 . The method of claim 3 wherein the determining step (a) comprises detecting a plurality of the SNP and surrogate SNP markers.
6 . The method of claim 4 wherein the determining step (a) comprises detecting a plurality of the SNP and surrogate SNP markers.
7 . A method of identifying a genetic variant in a person, the method comprising:
(a) determining whether the person has PNPLA3-I148M; and (b)(i) providing the person with information about risk of developing a liver disease selected from fatty liver, an increase in hepatic fat, hepatic steatosis, nonalcoholic fatty liver disease, and associated inflammation, or (ii) providing the person with a recommendation for an additional diagnostic test or monitoring to detect an indication of the liver disease, or (iii) prescribing to the person a treatment for the liver disease.
8 . The method of claim 7 further comprising the step of (c) determining whether the person has PNPLA3-S453I.
9 . The method of claim 7 wherein the determining step (a) comprises detecting using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, a marker of PNPLA3-I148M that is SNP rs738408, or a surrogate SNP in linkage disequilibrium with the PNPLA3-I148M and having a r 2 value greater than 0.5, wherein the surrogate SNP is selected from:
rs12483959,
rs1977081,
rs2072905,
rs1010022,
rs11090617,
rs1883349,
rs2896019,
rs926633,
rs4823173,
rs2281135,
rs2073081,
rs2294916, and
rs2076211,
rs2072907,
rs1010023,
rs4823179.
10 . The method of claim 8 wherein the determining step (a) comprises detecting using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, a marker of PNPLA3-I148M that is SNP rs738408, or a surrogate SNP in linkage disequilibrium with the PNPLA3-I148M and having a r 2 value greater than 0.5, wherein the surrogate SNP is selected from:
rs12483959,
rs1977081,
rs2072905,
rs1010022,
rs11090617,
rs1883349,
rs2896019,
rs926633,
rs4823173,
rs2281135,
rs2073081,
rs2294916, and
rs2076211,
rs2072907,
rs1010023,
rs4823179.
11 . The method of claim 9 wherein the determining step comprises detecting a plurality of the SNP and surrogate SNP markers.
12 . The method of claim 10 wherein the determining step comprises detecting a plurality of the SNP and surrogate SNP markers.
13 . A method of identifying a genetic variant in a person determined to have or be predisposed to having a subnormal hepatic fat or triglyceride content, or a subnormal susceptibility to hepatic steatosis or nonalcoholic fatty liver disease, the method comprising:
determining whether the person has PNPLA3-S4531.
14 . The method of claim 13 wherein the determining step comprises detecting using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, a marker of PNPLA3-S453I that is SNP rs6006460, or a surrogate SNP in linkage disequilibrium with the PNPLA3-S453I and having a r 2 value greater than 0.5.
15 . The method of claim 13 wherein the determining step comprises detecting a plurality of the SNP and surrogate SNP markers.
16 . A method of identifying a genetic variant in a person, the method comprising:
determining whether the person has PNPLA3-S453I; and providing the person with information about predisposition to have a subnormal hepatic fat or triglyceride content or a subnormal susceptibility to hepatic steatosis or nonalcoholic fatty liver disease, or providing the person with a recommendation for an additional diagnostic test or monitoring to detect an indication of liver disease, or prescribing to the person an alternative treatment for liver disease.
17 . The method of claim 16 wherein the determining step comprises detecting using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, a marker of PNPLA3-S453I that is SNP r s6006460, or a surrogate SNP in linkage disequilibrium with the PNPLA3-S453I and having a r 2 value greater than 0.5.
18 . The method of claim 16 wherein the determining step comprises detecting a plurality of the SNP and surrogate SNP markers.Join the waitlist — get patent alerts
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