Condition: Obesity


rs2531995 in ADCY9 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs1553403917 in ALMS1 gene and Obesity PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

rs4833407 in ALPK1 gene and Obesity PMID 22484627 2012 A genome-wide association meta-analysis identifies new childhood obesity loci.

rs2807278 in ARG1 gene and Obesity PMID 21552555 2011 A genome-wide association study on obesity and obesity-related traits.

rs10875976 in BCDIN3D-AS1 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs2030323 in BDNF gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs988712 in BDNF-AS gene and Obesity PMID 21708048 2011 Genome wide association study identifies KCNMA1 contributing to human obesity.

rs10835211 in BDNF;BDNF-AS gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs13078807 in CADM2 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs4712652 in CASC15 gene and Obesity PMID 19151714 2009 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.

rs1048466 in CCDC77 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs375168720 in DDHD2 gene and Obesity PMID 25417924 2014 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

PMID 24517879 2014 Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

PMID 23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

PMID 24337409 2014 Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

rs9816226 in DGKG gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs6726292 in EML6 gene and Obesity PMID 19553259 2009 Common body mass index-associated variants confer risk of extreme obesity.

rs1516725 in ETV5;DGKG gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs7132908 in FAIM2 gene and Obesity PMID 21935397 2011 Genome-wide population-based association study of extremely overweight young adults--the GOYA study.

rs9328321 in FARS2 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs10852521 in FTO gene and Obesity PMID 21935397 2011 Genome-wide population-based association study of extremely overweight young adults--the GOYA study.

PMID 21544081 2012 Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 18159244 2007 Six single nucleotide polymorphisms (SNPs) in FTO (fat mass and obesity associated gene) within one linkage disequilibrium (LD) block including the GWA SNP rendering the lowest p-value (rs1121980; log-additive model: nominal p = 1.13 x 10(-7), corrected p = 0.0494; odds ratio (OR)(CT) 1.67, 95% confidence interval (CI) 1.22-2.27; OR(TT) 2.76, 95% CI 1.88-4.03) belonged to the 15 SNPs showing the strongest evidence for association with obesity.

PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

PMID 19151714 2009 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.

PMID 20421936 2010 Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.

PMID 21552555 2011 For the binary trait of obesity, we found 16 genome-wide significant signals within the FTO gene (strongest signal at rs17817449, P = 2.5 × 10(-12)).

PMID 18159244 2007 Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

PMID 21706003 2011 Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.

PMID 22484627 2012 A genome-wide association meta-analysis identifies new childhood obesity loci.

PMID 19553259 2009 Common body mass index-associated variants confer risk of extreme obesity.

rs10423928 in GIPR gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs121964976 in GLDC gene and Obesity PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

rs12646911 in GLRA3 gene and Obesity PMID 25963547 2015 Genetic and clinical factors associated with obesity among adult survivors of childhood cancer: A report from the St. Jude Lifetime Cohort.

rs17024258 in GNAT2 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs9299 in HOXB5;HOXB3;HOXB-AS3 gene and Obesity PMID 22484627 2012 A genome-wide association meta-analysis identifies new childhood obesity loci.

rs7989336 in HS6ST3 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs999943 in ITPR3 gene and Obesity PMID 19553259 2009 Common body mass index-associated variants confer risk of extreme obesity.

rs2116830 in KCNMA1;KCNMA1-AS1 gene and Obesity PMID 21708048 2011 Genome wide association study identifies KCNMA1 contributing to human obesity.

rs11208659 in LEPR gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs10953454 in LHFPL3 gene and Obesity PMID 21552555 2011 A genome-wide association study on obesity and obesity-related traits.

rs6731302 in LINC01122 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs4438957 in LINC02055 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs4864201 in LINC02465 gene and Obesity PMID 22484627 2012 A genome-wide association meta-analysis identifies new childhood obesity loci.

rs10968576 in LINGO2 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs12446554 in LOC105371116 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs13041126 in LOC105372666;LINC01524 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs1704198 in LOC105372912 gene and Obesity PMID 23818313 2013 Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.

rs16923476 in LOC105376454 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs1993709 in LOC105378797 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs2605100 in LOC107985272;LYPLAL1-AS1 gene and Obesity PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

rs1040070 in LRRC53;FPGT-TNNI3K;TNNI3K gene and Obesity PMID 22484627 2012 A genome-wide association meta-analysis identifies new childhood obesity loci.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs6076920 in LRRN4 gene and Obesity PMID 18159244 2007 Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

rs8028313 in MAP2K5 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs121913564 in MC4R gene and Obesity PMID 26179253 2015 Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

PMID 12588803 2003 Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

PMID 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

PMID 20631012 2010 We have studied the intracellular localization of four obesity-linked MC4R variants, P78L, R165W, I316S, and I317T, in immortalized neurons.

PMID 22463805 2012 High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.

PMID 15486053 2005 Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.

PMID 12970296 2003 Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

PMID 16507637 2006 Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.

PMID 18801902 2009 Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

PMID 19091795 2009 Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

PMID 19301229 2009 Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.

PMID 18559663 2008 Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

PMID 20966905 2011 Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.

PMID 16274851 2006 Obesity-associated mutations in the human melanocortin-4 receptor gene.

PMID 10199800 1999 In both of these cases Tyr-35-Stop and Asp-37-Val were maternally transmitted, thus these variations form a haplotype. d) e) A male obese proband harbored two missense mutations (Ser-30-Phe, Gly-252-Ser). f)-i) Four different missense mutations (Pro-78-Leu, Thr-112-Met, Arg-165-Trp, Ile-317-Thr) were detected in four different male probands, respectively.

PMID 25332687 2014 Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

PMID 10903343 2000 Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

PMID 12690102 2003 Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.

PMID 17628007 2007 Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.

PMID 15448103 2004 The second variant, detected in 10 obese subjects, predicted a previously identified arginine-to-glutamine substitution at codon 165, and the third variant, detected in one obese subject, predicted a novel glycine-to-serine substitution at codon 231.

rs796052908 in MIR6766;POLG gene and Obesity PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PMID 18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

rs7638110 in MRPS22 gene and Obesity PMID 22013104 2012 Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.

rs2293855 in MTMR9 gene and Obesity PMID 17855449 2007 Starting from 62 663 gene-based single-nucleotide polymorphisms (SNPs) in three sequential case-control association studies, we identified a replicated association between the obesity phenotype (BMI > or =30 kg/m(2)) and a SNP (rs2293855) located in the myotublarin-related protein 9 (MTMR9) gene in the chromosomal segment 8p23-p22.

rs11088859 in NCAM2 gene and Obesity PMID 21552555 2011 A genome-wide association study on obesity and obesity-related traits.

rs2275848 in NINJ1 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs1805081 in NPC1 gene and Obesity PMID 19151714 2009 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.

rs11624704 in NRXN3 gene and Obesity PMID 21552555 2011 We next examined obesity-related quantitative traits (such as total body weight, waist circumference and waist to hip ratio), and detected genome-wide significant signals between waist to hip ratio and NRXN3 (rs11624704, P = 2.67 × 10(-9)), previously associated with body weight and fat distribution.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs564343 in PACS1 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs16933812 in PAX5 gene and Obesity PMID 22013104 2012 Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.

rs17081231 in PCDH9 gene and Obesity PMID 21552555 2011 A genome-wide association study on obesity and obesity-related traits.

rs4823173 in PNPLA3 gene and Obesity PMID 25246029 2015 Genome-wide analysis of hepatic lipid content in extreme obesity.

rs2307111 in POC5 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs2112347 in POC5;LOC441087 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs1957894 in PRKCH gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs7184597 in RABEP2 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs11109072 in RMST gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs7503807 in RPTOR gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs1567499068 in SCAPER gene and Obesity PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs3782724 in SCNN1A gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs12145833 in SDCCAG8 gene and Obesity PMID 20421936 2010 Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.

rs10913469 in SEC16B;CRYZL2P-SEC16B gene and Obesity PMID 22484627 2012 A genome-wide association meta-analysis identifies new childhood obesity loci.

rs7498665 in SH2B1 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs17025867 in SLC8A1 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs10859525 in SOCS2-AS1 gene and Obesity PMID 25246029 2015 Genome-wide analysis of hepatic lipid content in extreme obesity.

rs297325 in SOX6 gene and Obesity PMID 19714249 2009 Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.

rs10401969 in SUGP1 gene and Obesity PMID 25246029 2015 Genome-wide analysis of hepatic lipid content in extreme obesity.

rs6429082 in TBCE gene and Obesity PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

rs2206277 in TFAP2B gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

rs1514177 in TNNI3K;FPGT-TNNI3K;LRRC53 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs11042023 in TRIM66 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs5762430 in TTC28-AS1;TTC28 gene and Obesity PMID 21552555 2011 A genome-wide association study on obesity and obesity-related traits.

rs4148325 in UGT1A8;UGT1A5;UGT1A10;UGT1A7;UGT1A1;UGT1A9;UGT1A3;UGT1A4;UGT1A6 gene and Obesity PMID 25246029 2015 Genome-wide analysis of hepatic lipid content in extreme obesity.

rs9923451 in WWOX gene and Obesity PMID 21552555 2011 A genome-wide association study on obesity and obesity-related traits.

rs17381664 in ZZZ3 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.