PMC:4195273 / 79349-83409 JSONTXT

{"project":"TEST0","denotations":[{"id":"25352770-223-231-357872","span":{"begin":267,"end":271},"obj":"[\"9806554\"]"},{"id":"25352770-233-241-357873","span":{"begin":672,"end":676},"obj":"[\"10905499\"]"},{"id":"25352770-233-241-357874","span":{"begin":1137,"end":1141},"obj":"[\"11522684\"]"},{"id":"25352770-233-241-357875","span":{"begin":1670,"end":1674},"obj":"[\"11791158\"]"},{"id":"25352770-235-243-357876","span":{"begin":1908,"end":1912},"obj":"[\"15823203\"]"},{"id":"25352770-232-240-357877","span":{"begin":2119,"end":2123},"obj":"[\"15823203\"]"},{"id":"25352770-235-243-357878","span":{"begin":2384,"end":2388},"obj":"[\"15823203\"]"},{"id":"25352770-227-235-357879","span":{"begin":2792,"end":2796},"obj":"[\"15823203\"]"},{"id":"25352770-229-237-357880","span":{"begin":3142,"end":3146},"obj":"[\"17008116\"]"},{"id":"25352770-230-238-357881","span":{"begin":3635,"end":3639},"obj":"[\"20151954\"]"}],"text":"Publication Genetic association study Ethnicity (sample size) Body weight (sample size) Genetic variation/susceptibility locus Occurrence Feeding behavior and body weight alterations Biochemical alteration Energy and glucose homeostasis\nHager et al., 1998 Genome-wide scan for human obesity-susceptibility loci using model-free multipoint linkage analysis French Caucasian (514) Overweight (72), obese (107), morbidly obese (196), and non-obese controls (139) Chromosomal locus 5q13.2 (CART gene) Higher allele frequencies in overweight and obese sibpairs N/A Linkage with ↑ serum leptin levels ↑ Fasting glucose and insulin levels\nChallis et al., 2000 Mutational analysis and population genetics British Caucasian (902) Morbidly obese (91) and non-obese (811) 1475A\u003eG SNP (3′-UTR of exon 3) NSD in allele frequency between obese and control subjects Potential link to early-onset obesity; ↓ waist-to-hip ratio in male heterozygotes Potential interference with fat distribution and contribution to dyslipidaemia ↓ Fasting plasma insulin and fasting triglycerides in male heterozygotes\ndel Giudice et al., 2001 Single-strand conformation polymorphism and automatic sequencing Italian (230) Obese (130) and non-obese controls (100) Leu34Phe missense mutation in pro-CART (729G\u003eC in exon 2) A large family of obese subjects across three generations Hyperphagia and severe early-onset obesity even when heterozygous for allele Altered post-translational processing; intracellular missorting of proCART; bioactive CART deficiency in the serum; ↑ serum leptin levels ↓ Resting metabolic rates; linked to type II diabetes\nYamada et al., 2002 Single-strand conformation polymorphism and direct sequencing Japanese (558) Overweight and obese (528), non-obese controls (30) 6 polymorphic sites at 5′-flanking region, e.g., −156A\u003eG [corresponds to −175A\u003eG (Guerardel et al., 2005)], −929G\u003eC Higher allele frequencies in obese subjects than controls ↑ Genetic predisposition to obesity when in linkage disequliibrium N/A Potential association with type II diabetes\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French Caucasian (660) Morbidly obese (292) and non-obese controls (368) 1475A\u003eG SNP (3′-UTR of exon 3) Higher allele frequencies in morbidly obese subjects than controls N/A N/A N/A\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French Caucasian (989) Morbidly obese (621) and non-obese controls (368) 5′ SNPs: −3608T\u003eC, −3607C\u003eT, −1702C\u003eT, −175A\u003eG; 3′UTR SNP: ΔA1457 Higher allele frequencies in morbidly obese subjects than controls; association enhanced with the SNP haplotype structure 3608T\u003eC (or 175A\u003eG) and −1702C\u003eT, combined to ΔA1457 N/A N/A N/A\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French (2340) and Swiss (385) Caucasian Moderately obese (619), morbidly obese (1006) and non-obese controls (1100) −3608T\u003eC SNP (promoter region) Higher allele frequencies ↑ Genetic predisposition to obesity Potential modulation of nuclear protein binding affinity N/A\nVasseur et al., 2007 Sequence variability screen and haplotype analysis French Caucasian (840) General population sample 5′ SNPs: −3608T\u003eC, −1702C\u003eT, −175A\u003eG (promoter region) NSD in allele frequency between subjects with different BMI; strong linkage disequilibrium between the SNPs, haplotypic effect attributed to −3608T\u003eC N/A ↓ Plasma LDL-cholesterol level and LDL/HDL ratio; potential protection against atherogenesis Potential association with lipid metabolism and atherogenicity\nRigoli et al., 2010 Family-based association methods Italian (320) Overweight (103), obese (30) and non-obese controls (187) 1475A\u003eG SNP (3′-UTR of exon 3) Higher allele frequencies in overweight (0.07) and obese (0.08) children compared to non-obese unrelated controls (children and/or adults) (0.02); preferential transmission of 1475G allele from heterozygous parents to overweight and obese offspring Early-onset obesity N/A N/A"}

{"project":"0_colil","denotations":[{"id":"25352770-9806554-357872","span":{"begin":267,"end":271},"obj":"9806554"},{"id":"25352770-10905499-357873","span":{"begin":672,"end":676},"obj":"10905499"},{"id":"25352770-11522684-357874","span":{"begin":1137,"end":1141},"obj":"11522684"},{"id":"25352770-11791158-357875","span":{"begin":1670,"end":1674},"obj":"11791158"},{"id":"25352770-15823203-357876","span":{"begin":1908,"end":1912},"obj":"15823203"},{"id":"25352770-15823203-357877","span":{"begin":2119,"end":2123},"obj":"15823203"},{"id":"25352770-15823203-357878","span":{"begin":2384,"end":2388},"obj":"15823203"},{"id":"25352770-15823203-357879","span":{"begin":2792,"end":2796},"obj":"15823203"},{"id":"25352770-17008116-357880","span":{"begin":3142,"end":3146},"obj":"17008116"},{"id":"25352770-20151954-357881","span":{"begin":3635,"end":3639},"obj":"20151954"}],"text":"Publication Genetic association study Ethnicity (sample size) Body weight (sample size) Genetic variation/susceptibility locus Occurrence Feeding behavior and body weight alterations Biochemical alteration Energy and glucose homeostasis\nHager et al., 1998 Genome-wide scan for human obesity-susceptibility loci using model-free multipoint linkage analysis French Caucasian (514) Overweight (72), obese (107), morbidly obese (196), and non-obese controls (139) Chromosomal locus 5q13.2 (CART gene) Higher allele frequencies in overweight and obese sibpairs N/A Linkage with ↑ serum leptin levels ↑ Fasting glucose and insulin levels\nChallis et al., 2000 Mutational analysis and population genetics British Caucasian (902) Morbidly obese (91) and non-obese (811) 1475A\u003eG SNP (3′-UTR of exon 3) NSD in allele frequency between obese and control subjects Potential link to early-onset obesity; ↓ waist-to-hip ratio in male heterozygotes Potential interference with fat distribution and contribution to dyslipidaemia ↓ Fasting plasma insulin and fasting triglycerides in male heterozygotes\ndel Giudice et al., 2001 Single-strand conformation polymorphism and automatic sequencing Italian (230) Obese (130) and non-obese controls (100) Leu34Phe missense mutation in pro-CART (729G\u003eC in exon 2) A large family of obese subjects across three generations Hyperphagia and severe early-onset obesity even when heterozygous for allele Altered post-translational processing; intracellular missorting of proCART; bioactive CART deficiency in the serum; ↑ serum leptin levels ↓ Resting metabolic rates; linked to type II diabetes\nYamada et al., 2002 Single-strand conformation polymorphism and direct sequencing Japanese (558) Overweight and obese (528), non-obese controls (30) 6 polymorphic sites at 5′-flanking region, e.g., −156A\u003eG [corresponds to −175A\u003eG (Guerardel et al., 2005)], −929G\u003eC Higher allele frequencies in obese subjects than controls ↑ Genetic predisposition to obesity when in linkage disequliibrium N/A Potential association with type II diabetes\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French Caucasian (660) Morbidly obese (292) and non-obese controls (368) 1475A\u003eG SNP (3′-UTR of exon 3) Higher allele frequencies in morbidly obese subjects than controls N/A N/A N/A\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French Caucasian (989) Morbidly obese (621) and non-obese controls (368) 5′ SNPs: −3608T\u003eC, −3607C\u003eT, −1702C\u003eT, −175A\u003eG; 3′UTR SNP: ΔA1457 Higher allele frequencies in morbidly obese subjects than controls; association enhanced with the SNP haplotype structure 3608T\u003eC (or 175A\u003eG) and −1702C\u003eT, combined to ΔA1457 N/A N/A N/A\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French (2340) and Swiss (385) Caucasian Moderately obese (619), morbidly obese (1006) and non-obese controls (1100) −3608T\u003eC SNP (promoter region) Higher allele frequencies ↑ Genetic predisposition to obesity Potential modulation of nuclear protein binding affinity N/A\nVasseur et al., 2007 Sequence variability screen and haplotype analysis French Caucasian (840) General population sample 5′ SNPs: −3608T\u003eC, −1702C\u003eT, −175A\u003eG (promoter region) NSD in allele frequency between subjects with different BMI; strong linkage disequilibrium between the SNPs, haplotypic effect attributed to −3608T\u003eC N/A ↓ Plasma LDL-cholesterol level and LDL/HDL ratio; potential protection against atherogenesis Potential association with lipid metabolism and atherogenicity\nRigoli et al., 2010 Family-based association methods Italian (320) Overweight (103), obese (30) and non-obese controls (187) 1475A\u003eG SNP (3′-UTR of exon 3) Higher allele frequencies in overweight (0.07) and obese (0.08) children compared to non-obese unrelated controls (children and/or adults) (0.02); preferential transmission of 1475G allele from heterozygous parents to overweight and obese offspring Early-onset obesity N/A N/A"}

{"project":"2_test","denotations":[{"id":"25352770-9806554-38284861","span":{"begin":267,"end":271},"obj":"9806554"},{"id":"25352770-10905499-38284862","span":{"begin":672,"end":676},"obj":"10905499"},{"id":"25352770-11522684-38284863","span":{"begin":1137,"end":1141},"obj":"11522684"},{"id":"25352770-11791158-38284864","span":{"begin":1670,"end":1674},"obj":"11791158"},{"id":"25352770-15823203-38284865","span":{"begin":1908,"end":1912},"obj":"15823203"},{"id":"25352770-15823203-38284866","span":{"begin":2119,"end":2123},"obj":"15823203"},{"id":"25352770-15823203-38284867","span":{"begin":2384,"end":2388},"obj":"15823203"},{"id":"25352770-15823203-38284868","span":{"begin":2792,"end":2796},"obj":"15823203"},{"id":"25352770-17008116-38284869","span":{"begin":3142,"end":3146},"obj":"17008116"},{"id":"25352770-20151954-38284870","span":{"begin":3635,"end":3639},"obj":"20151954"}],"text":"Publication Genetic association study Ethnicity (sample size) Body weight (sample size) Genetic variation/susceptibility locus Occurrence Feeding behavior and body weight alterations Biochemical alteration Energy and glucose homeostasis\nHager et al., 1998 Genome-wide scan for human obesity-susceptibility loci using model-free multipoint linkage analysis French Caucasian (514) Overweight (72), obese (107), morbidly obese (196), and non-obese controls (139) Chromosomal locus 5q13.2 (CART gene) Higher allele frequencies in overweight and obese sibpairs N/A Linkage with ↑ serum leptin levels ↑ Fasting glucose and insulin levels\nChallis et al., 2000 Mutational analysis and population genetics British Caucasian (902) Morbidly obese (91) and non-obese (811) 1475A\u003eG SNP (3′-UTR of exon 3) NSD in allele frequency between obese and control subjects Potential link to early-onset obesity; ↓ waist-to-hip ratio in male heterozygotes Potential interference with fat distribution and contribution to dyslipidaemia ↓ Fasting plasma insulin and fasting triglycerides in male heterozygotes\ndel Giudice et al., 2001 Single-strand conformation polymorphism and automatic sequencing Italian (230) Obese (130) and non-obese controls (100) Leu34Phe missense mutation in pro-CART (729G\u003eC in exon 2) A large family of obese subjects across three generations Hyperphagia and severe early-onset obesity even when heterozygous for allele Altered post-translational processing; intracellular missorting of proCART; bioactive CART deficiency in the serum; ↑ serum leptin levels ↓ Resting metabolic rates; linked to type II diabetes\nYamada et al., 2002 Single-strand conformation polymorphism and direct sequencing Japanese (558) Overweight and obese (528), non-obese controls (30) 6 polymorphic sites at 5′-flanking region, e.g., −156A\u003eG [corresponds to −175A\u003eG (Guerardel et al., 2005)], −929G\u003eC Higher allele frequencies in obese subjects than controls ↑ Genetic predisposition to obesity when in linkage disequliibrium N/A Potential association with type II diabetes\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French Caucasian (660) Morbidly obese (292) and non-obese controls (368) 1475A\u003eG SNP (3′-UTR of exon 3) Higher allele frequencies in morbidly obese subjects than controls N/A N/A N/A\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French Caucasian (989) Morbidly obese (621) and non-obese controls (368) 5′ SNPs: −3608T\u003eC, −3607C\u003eT, −1702C\u003eT, −175A\u003eG; 3′UTR SNP: ΔA1457 Higher allele frequencies in morbidly obese subjects than controls; association enhanced with the SNP haplotype structure 3608T\u003eC (or 175A\u003eG) and −1702C\u003eT, combined to ΔA1457 N/A N/A N/A\nGuerardel et al., 2005 Sequence variability screen and haplotype analysis French (2340) and Swiss (385) Caucasian Moderately obese (619), morbidly obese (1006) and non-obese controls (1100) −3608T\u003eC SNP (promoter region) Higher allele frequencies ↑ Genetic predisposition to obesity Potential modulation of nuclear protein binding affinity N/A\nVasseur et al., 2007 Sequence variability screen and haplotype analysis French Caucasian (840) General population sample 5′ SNPs: −3608T\u003eC, −1702C\u003eT, −175A\u003eG (promoter region) NSD in allele frequency between subjects with different BMI; strong linkage disequilibrium between the SNPs, haplotypic effect attributed to −3608T\u003eC N/A ↓ Plasma LDL-cholesterol level and LDL/HDL ratio; potential protection against atherogenesis Potential association with lipid metabolism and atherogenicity\nRigoli et al., 2010 Family-based association methods Italian (320) Overweight (103), obese (30) and non-obese controls (187) 1475A\u003eG SNP (3′-UTR of exon 3) Higher allele frequencies in overweight (0.07) and obese (0.08) children compared to non-obese unrelated controls (children and/or adults) (0.02); preferential transmission of 1475G allele from heterozygous parents to overweight and obese offspring Early-onset obesity N/A N/A"}