Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele
Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a larg...
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| Published in | Human molecular genetics Vol. 20; no. 20; pp. 4056 - 4068 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford
Oxford University Press
15.10.2011
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0964-6906 1460-2083 1460-2083 |
| DOI | 10.1093/hmg/ddr307 |
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| Abstract | Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using 14C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 × 10−8): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 × 10−9), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 × 10−32) and SLC22A12 (P= 2.1 × 10−10). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta −1.19 mg/dl, P= 2.7 × 10−16). 14C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants. |
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| AbstractList | Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using super(14)C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 10 super(-8)): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 10 super(-9)), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 10 super(-32)) and SLC22A12 (P= 2.1 10 super(-10)). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta -1.19 mg/dl, P= 2.7 10 super(-16)). super(14)C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants. Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using (14)C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 × 10(-8)): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 × 10(-9)), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 × 10(-32)) and SLC22A12 (P= 2.1 × 10(-10)). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta -1.19 mg/dl, P= 2.7 × 10(-16)). (14)C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants. Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using (14)C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 × 10(-8)): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 × 10(-9)), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 × 10(-32)) and SLC22A12 (P= 2.1 × 10(-10)). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta -1.19 mg/dl, P= 2.7 × 10(-16)). (14)C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants.Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using (14)C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 × 10(-8)): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 × 10(-9)), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 × 10(-32)) and SLC22A12 (P= 2.1 × 10(-10)). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta -1.19 mg/dl, P= 2.7 × 10(-16)). (14)C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants. Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using 14C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 × 10−8): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 × 10−9), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 × 10−32) and SLC22A12 (P= 2.1 × 10−10). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta −1.19 mg/dl, P= 2.7 × 10−16). 14C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants. Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using 14 C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance ( P < 5.0 × 10 −8 ): a novel locus near SGK1 / SLC2A12 on chromosome 6 (rs9321453, P = 1.0 × 10 −9 ), and two loci previously identified in EA participants, SLC2A9 ( P = 3.8 × 10 −32 ) and SLC22A12 ( P = 2.1 × 10 −10 ). A novel rare non-synonymous variant of large effect size in SLC22A12 , rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta −1.19 mg/dl, P = 2.7 × 10 −16 ). 14 C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants. |
| Author | Fox, Caroline S. Liu, Ching-Ti Hwang, Shih-Jen Akylbekova, Ermeg L. Zonderman, Alan B. Cupples, L. Adrienne Siscovick, David Lu, Xiaoning Rotimi, Charles N. Yang, Qiong Nalls, Michael A. Adeyemo, Adebowale A. Shriner, Daniel Meng, Yan Wyatt, Sharon B. Köttgen, Anna Flessner, Michael F. Köttgen, Michael Evans, Michele K. Semmo, Mariam Shlipak, Michael G. Reilly, Muredach Tin, Adrienne Woodward, Owen M. Palmer, Cameron Kao, Wen Hong Linda |
| AuthorAffiliation | 15 Department of Epidemiology and 5 Center for Research on Genomics and Global Health , National Human Genome Research Institute , Building 12A, Room 4047, 12 South Dr., MSC 5635, Bethesda, MD 20892-5635 , USA 10 NHLBI's Framingham Heart Study and the Center for Population Studies , 73 Mt Wayte Ave Suite #2, Framingham, MA 01702 , USA 2 Department of Physiology , Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA 9 Department of Medicine , University of Mississippi Medical Center , 2500 North State Street, Jackson, MS 39216-4505 , USA 4 Laboratory of Neurogenetics , National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 , USA 21 KUH, NIDDK , NIH, 6707 Democracy Blvd, Room 641, 2 Democracy MS 5458, Bethesda, MD 20892-5458 , USA and 8 School of Nursing and 22 Brigham and Women's Hospital Department of Endocrinology and Harvard Medical School, Boston, MA , USA 14 San Francisco VA Medical Center; Departments of Medicine, Epidemiology & Biostatistics , U |
| AuthorAffiliation_xml | – name: 8 School of Nursing and – name: 2 Department of Physiology , Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA – name: 1 Department of Epidemiology , Johns Hopkins Bloomberg School of Public Health , 615 N. Wolfe Street, Baltimore, MD 21205 , USA – name: 15 Department of Epidemiology and – name: 13 University of Pennsylvania Medical Center, Cardiovascular Institute , 609 BRB, 421 Curie Boulevard, Philadelphia, PA 19104 , USA – name: 7 Jackson State University , 350 West Woodrow Wilson Drive, Suite 701, Jackson, MS 39213 , USA – name: 18 Program in Medical and Population Genetics , Broad Institute , Cambridge, MA , USA – name: 9 Department of Medicine , University of Mississippi Medical Center , 2500 North State Street, Jackson, MS 39216-4505 , USA – name: 17 Health Disparities Research Section, Clinical Research Branch , National Institute on Aging, National Institutes of Health , 251 Bayview Boulevard, Baltimore, MD 21224 , USA – name: 12 Laboratory of Personality and Cognition , NIA, Gerontology Research Center , 5600 Nathan Shock Drive MSC 6825, Baltimore, MD 21224-6825 , USA – name: 5 Center for Research on Genomics and Global Health , National Human Genome Research Institute , Building 12A, Room 4047, 12 South Dr., MSC 5635, Bethesda, MD 20892-5635 , USA – name: 6 Renal Division , University Hospital of Freiburg , Freiburg , Germany – name: 4 Laboratory of Neurogenetics , National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 , USA – name: 11 Department of Biostatistics , Boston University School of Public Health , 715 Albany Street , Boston , MA 02118 , USA – name: 14 San Francisco VA Medical Center; Departments of Medicine, Epidemiology & Biostatistics , University of California , San Francisco, CA , USA – name: 19 Divisions of Genetics and Endocrinology and Program in Genomics , Children's Hospital Boston , Boston, MA , USA – name: 10 NHLBI's Framingham Heart Study and the Center for Population Studies , 73 Mt Wayte Ave Suite #2, Framingham, MA 01702 , USA – name: 16 Department of Medicine , University of Washington , 1730 Minor Avenure, Suite 1360, Seattle, WA 98101 , USA – name: 20 Metabolic Disease Initiative , Broad Institute of Harvard and MIT , Cambridge, MA , USA – name: 22 Brigham and Women's Hospital Department of Endocrinology and Harvard Medical School, Boston, MA , USA – name: 3 Department of Biostatistics , Boston University School of Public Health , 801 Massachusetts Ave, CT3, Boston, MA 02118 , USA – name: 21 KUH, NIDDK , NIH, 6707 Democracy Blvd, Room 641, 2 Democracy MS 5458, Bethesda, MD 20892-5458 , USA and |
| Author_xml | – sequence: 1 givenname: Adrienne surname: Tin fullname: Tin, Adrienne organization: 1 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe Street, Baltimore, MD 21205, USA – sequence: 2 givenname: Owen M. surname: Woodward fullname: Woodward, Owen M. organization: 2 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA – sequence: 3 givenname: Wen Hong Linda surname: Kao fullname: Kao, Wen Hong Linda organization: 1 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe Street, Baltimore, MD 21205, USA – sequence: 4 givenname: Ching-Ti surname: Liu fullname: Liu, Ching-Ti organization: 3 Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Ave, CT3, Boston, MA 02118, USA – sequence: 5 givenname: Xiaoning surname: Lu fullname: Lu, Xiaoning organization: 3 Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Ave, CT3, Boston, MA 02118, USA – sequence: 6 givenname: Michael A. surname: Nalls fullname: Nalls, Michael A. organization: 4 Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA – sequence: 7 givenname: Daniel surname: Shriner fullname: Shriner, Daniel organization: 5 Center for Research on Genomics and Global Health, National Human Genome Research Institute, Building 12A, Room 4047, 12 South Dr., MSC 5635, Bethesda, MD 20892-5635, USA – sequence: 8 givenname: Mariam surname: Semmo fullname: Semmo, Mariam organization: 6 Renal Division, University Hospital of Freiburg, Freiburg, Germany – sequence: 9 givenname: Ermeg L. surname: Akylbekova fullname: Akylbekova, Ermeg L. organization: 7 Jackson State University, 350 West Woodrow Wilson Drive, Suite 701, Jackson, MS 39213, USA – sequence: 10 givenname: Sharon B. surname: Wyatt fullname: Wyatt, Sharon B. organization: 8 School of Nursing and – sequence: 11 givenname: Shih-Jen surname: Hwang fullname: Hwang, Shih-Jen organization: 10 NHLBI's Framingham Heart Study and the Center for Population Studies, 73 Mt Wayte Ave Suite #2, Framingham, MA 01702, USA – sequence: 12 givenname: Qiong surname: Yang fullname: Yang, Qiong organization: 11 Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA – sequence: 13 givenname: Alan B. surname: Zonderman fullname: Zonderman, Alan B. organization: 12 Laboratory of Personality and Cognition, NIA, Gerontology Research Center, 5600 Nathan Shock Drive MSC 6825, Baltimore, MD 21224-6825, USA – sequence: 14 givenname: Adebowale A. surname: Adeyemo fullname: Adeyemo, Adebowale A. organization: 5 Center for Research on Genomics and Global Health, National Human Genome Research Institute, Building 12A, Room 4047, 12 South Dr., MSC 5635, Bethesda, MD 20892-5635, USA – sequence: 15 givenname: Cameron surname: Palmer fullname: Palmer, Cameron organization: 18 Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA – sequence: 16 givenname: Yan surname: Meng fullname: Meng, Yan organization: 20 Metabolic Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA – sequence: 17 givenname: Muredach surname: Reilly fullname: Reilly, Muredach organization: 13 University of Pennsylvania Medical Center, Cardiovascular Institute, 609 BRB, 421 Curie Boulevard, Philadelphia, PA 19104, USA – sequence: 18 givenname: Michael G. surname: Shlipak fullname: Shlipak, Michael G. organization: 14 San Francisco VA Medical Center; Departments of Medicine, Epidemiology & Biostatistics, University of California, San Francisco, CA, USA – sequence: 19 givenname: David surname: Siscovick fullname: Siscovick, David organization: 15 Department of Epidemiology and – sequence: 20 givenname: Michele K. surname: Evans fullname: Evans, Michele K. organization: 17 Health Disparities Research Section, Clinical Research Branch, National Institute on Aging, National Institutes of Health, 251 Bayview Boulevard, Baltimore, MD 21224, USA – sequence: 21 givenname: Charles N. surname: Rotimi fullname: Rotimi, Charles N. organization: 5 Center for Research on Genomics and Global Health, National Human Genome Research Institute, Building 12A, Room 4047, 12 South Dr., MSC 5635, Bethesda, MD 20892-5635, USA – sequence: 22 givenname: Michael F. surname: Flessner fullname: Flessner, Michael F. organization: 21 KUH, NIDDK, NIH, 6707 Democracy Blvd, Room 641, 2 Democracy MS 5458, Bethesda, MD 20892-5458, USA and – sequence: 23 givenname: Michael surname: Köttgen fullname: Köttgen, Michael organization: 6 Renal Division, University Hospital of Freiburg, Freiburg, Germany – sequence: 24 givenname: L. Adrienne surname: Cupples fullname: Cupples, L. Adrienne organization: 3 Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Ave, CT3, Boston, MA 02118, USA – sequence: 25 givenname: Caroline S. surname: Fox fullname: Fox, Caroline S. organization: 10 NHLBI's Framingham Heart Study and the Center for Population Studies, 73 Mt Wayte Ave Suite #2, Framingham, MA 01702, USA – sequence: 26 givenname: Anna surname: Köttgen fullname: Köttgen, Anna organization: 1 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe Street, Baltimore, MD 21205, USA |
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| Keywords | Gout Genomics Diseases of the osteoarticular system Metabolic diseases Risk Identification Uric acid Concentration Microcristalline arthropathy Hyperuricemia Allele Association Risk factor Genetics Serum Genome Locus Microcrystal African American |
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| Snippet | Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate... |
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| SubjectTerms | Adult Aged Animals Association Studies Biological and medical sciences Black or African American - genetics CHO Cells Cricetinae Diseases of the osteoarticular system Diverse techniques Female Fundamental and applied biological sciences. Psychology Genetic Loci Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study Genotype Gout - genetics Humans Inflammatory joint diseases Loss of Heterozygosity Male Medical sciences Middle Aged Molecular and cellular biology Organic Anion Transporters - genetics Organic Cation Transport Proteins - genetics Polymorphism, Single Nucleotide Uric Acid - blood White People - genetics Young Adult |
| Title | Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele |
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