PMC:4195273 / 79349-83409 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4195273","sourcedb":"PMC","sourceid":"4195273","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4195273","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","divisions":[{"label":"tr","span":{"begin":0,"end":252}},{"label":"th","span":{"begin":0,"end":12}},{"label":"th","span":{"begin":13,"end":39}},{"label":"th","span":{"begin":41,"end":65}},{"label":"th","span":{"begin":67,"end":93}},{"label":"th","span":{"begin":95,"end":134}},{"label":"th","span":{"begin":136,"end":147}},{"label":"th","span":{"begin":149,"end":194}},{"label":"th","span":{"begin":196,"end":219}},{"label":"th","span":{"begin":221,"end":252}},{"label":"tr","span":{"begin":253,"end":655}},{"label":"td","span":{"begin":253,"end":271}},{"label":"td","span":{"begin":273,"end":372}},{"label":"td","span":{"begin":374,"end":396}},{"label":"td","span":{"begin":398,"end":478}},{"label":"td","span":{"begin":480,"end":516}},{"label":"td","span":{"begin":518,"end":576}},{"label":"td","span":{"begin":578,"end":581}},{"label":"td","span":{"begin":583,"end":617}},{"label":"td","span":{"begin":619,"end":655}},{"label":"tr","span":{"begin":656,"end":1116}},{"label":"td","span":{"begin":656,"end":676}},{"label":"td","span":{"begin":678,"end":721}},{"label":"td","span":{"begin":723,"end":746}},{"label":"td","span":{"begin":748,"end":787}},{"label":"td","span":{"begin":789,"end":819}},{"label":"td","span":{"begin":821,"end":879}},{"label":"td","span":{"begin":881,"end":962}},{"label":"td","span":{"begin":964,"end":1042}},{"label":"td","span":{"begin":1044,"end":1116}},{"label":"tr","span":{"begin":1117,"end":1654}},{"label":"td","span":{"begin":1117,"end":1141}},{"label":"td","span":{"begin":1143,"end":1207}},{"label":"td","span":{"begin":1209,"end":1222}},{"label":"td","span":{"begin":1224,"end":1264}},{"label":"td","span":{"begin":1266,"end":1323}},{"label":"td","span":{"begin":1325,"end":1382}},{"label":"td","span":{"begin":1384,"end":1460}},{"label":"td","span":{"begin":1462,"end":1599}},{"label":"td","span":{"begin":1601,"end":1654}},{"label":"tr","span":{"begin":1655,"end":2100}},{"label":"td","span":{"begin":1655,"end":1674}},{"label":"td","span":{"begin":1676,"end":1737}},{"label":"td","span":{"begin":1739,"end":1753}},{"label":"td","span":{"begin":1755,"end":1806}},{"label":"td","span":{"begin":1808,"end":1923}},{"label":"td","span":{"begin":1925,"end":1982}},{"label":"td","span":{"begin":1984,"end":2050}},{"label":"td","span":{"begin":2052,"end":2055}},{"label":"td","span":{"begin":2057,"end":2100}},{"label":"tr","span":{"begin":2101,"end":2365}},{"label":"td","span":{"begin":2101,"end":2123}},{"label":"td","span":{"begin":2125,"end":2175}},{"label":"td","span":{"begin":2177,"end":2199}},{"label":"td","span":{"begin":2201,"end":2250}},{"label":"td","span":{"begin":2252,"end":2282}},{"label":"td","span":{"begin":2284,"end":2350}},{"label":"td","span":{"begin":2352,"end":2355}},{"label":"td","span":{"begin":2357,"end":2360}},{"label":"td","span":{"begin":2362,"end":2365}},{"label":"tr","span":{"begin":2366,"end":2773}},{"label":"td","span":{"begin":2366,"end":2388}},{"label":"td","span":{"begin":2390,"end":2440}},{"label":"td","span":{"begin":2442,"end":2464}},{"label":"td","span":{"begin":2466,"end":2515}},{"label":"td","span":{"begin":2517,"end":2582}},{"label":"td","span":{"begin":2584,"end":2758}},{"label":"td","span":{"begin":2760,"end":2763}},{"label":"td","span":{"begin":2765,"end":2768}},{"label":"td","span":{"begin":2770,"end":2773}},{"label":"tr","span":{"begin":2774,"end":3125}},{"label":"td","span":{"begin":2774,"end":2796}},{"label":"td","span":{"begin":2798,"end":2848}},{"label":"td","span":{"begin":2850,"end":2889}},{"label":"td","span":{"begin":2891,"end":2966}},{"label":"td","span":{"begin":2968,"end":2998}},{"label":"td","span":{"begin":3000,"end":3025}},{"label":"td","span":{"begin":3027,"end":3062}},{"label":"td","span":{"begin":3064,"end":3120}},{"label":"td","span":{"begin":3122,"end":3125}},{"label":"tr","span":{"begin":3126,"end":3619}},{"label":"td","span":{"begin":3126,"end":3146}},{"label":"td","span":{"begin":3148,"end":3198}},{"label":"td","span":{"begin":3200,"end":3222}},{"label":"td","span":{"begin":3224,"end":3249}},{"label":"td","span":{"begin":3251,"end":3305}},{"label":"td","span":{"begin":3307,"end":3456}},{"label":"td","span":{"begin":3458,"end":3461}},{"label":"td","span":{"begin":3463,"end":3555}},{"label":"td","span":{"begin":3557,"end":3619}},{"label":"td","span":{"begin":3620,"end":3639}},{"label":"td","span":{"begin":3641,"end":3673}},{"label":"td","span":{"begin":3675,"end":3688}},{"label":"td","span":{"begin":3690,"end":3747}},{"label":"td","span":{"begin":3749,"end":3779}},{"label":"td","span":{"begin":3781,"end":4029}},{"label":"td","span":{"begin":4031,"end":4050}},{"label":"td","span":{"begin":4052,"end":4055}}],"tracks":[{"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\"]"}],"attributes":[{"subj":"25352770-223-231-357872","pred":"source","obj":"TEST0"},{"subj":"25352770-233-241-357873","pred":"source","obj":"TEST0"},{"subj":"25352770-233-241-357874","pred":"source","obj":"TEST0"},{"subj":"25352770-233-241-357875","pred":"source","obj":"TEST0"},{"subj":"25352770-235-243-357876","pred":"source","obj":"TEST0"},{"subj":"25352770-232-240-357877","pred":"source","obj":"TEST0"},{"subj":"25352770-235-243-357878","pred":"source","obj":"TEST0"},{"subj":"25352770-227-235-357879","pred":"source","obj":"TEST0"},{"subj":"25352770-229-237-357880","pred":"source","obj":"TEST0"},{"subj":"25352770-230-238-357881","pred":"source","obj":"TEST0"}]},{"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"}],"attributes":[{"subj":"25352770-9806554-357872","pred":"source","obj":"0_colil"},{"subj":"25352770-10905499-357873","pred":"source","obj":"0_colil"},{"subj":"25352770-11522684-357874","pred":"source","obj":"0_colil"},{"subj":"25352770-11791158-357875","pred":"source","obj":"0_colil"},{"subj":"25352770-15823203-357876","pred":"source","obj":"0_colil"},{"subj":"25352770-15823203-357877","pred":"source","obj":"0_colil"},{"subj":"25352770-15823203-357878","pred":"source","obj":"0_colil"},{"subj":"25352770-15823203-357879","pred":"source","obj":"0_colil"},{"subj":"25352770-17008116-357880","pred":"source","obj":"0_colil"},{"subj":"25352770-20151954-357881","pred":"source","obj":"0_colil"}]},{"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"}],"attributes":[{"subj":"25352770-9806554-38284861","pred":"source","obj":"2_test"},{"subj":"25352770-10905499-38284862","pred":"source","obj":"2_test"},{"subj":"25352770-11522684-38284863","pred":"source","obj":"2_test"},{"subj":"25352770-11791158-38284864","pred":"source","obj":"2_test"},{"subj":"25352770-15823203-38284865","pred":"source","obj":"2_test"},{"subj":"25352770-15823203-38284866","pred":"source","obj":"2_test"},{"subj":"25352770-15823203-38284867","pred":"source","obj":"2_test"},{"subj":"25352770-15823203-38284868","pred":"source","obj":"2_test"},{"subj":"25352770-17008116-38284869","pred":"source","obj":"2_test"},{"subj":"25352770-20151954-38284870","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"TEST0","color":"#c7ec93","default":true},{"id":"0_colil","color":"#ec93e1"},{"id":"2_test","color":"#93ecdd"}]}]}}