Influence of FTO variants on obesity, inflammation and cardiovascular disease risk biomarkers in Spanish children: a case-control multicentre study.

Abstract:

BACKGROUND:Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene, with obesity and estimated the influence of these polymorphisms on anthropometric, clinical and metabolic parameters as well as inflammation and cardiovascular disease (CVD) risk biomarkers among Spanish children. METHODS:A multicentre case-control study was conducted in 534 children (292 obese and 242 with normal-BMI). Anthropometric, clinical, metabolic, inflammation and CVD risk markers were compared using the Student's t-test for unpaired samples. The genotype relative risk was assessed by comparing the obese and normal-BMI group, calculating the odds ratio. The association of each SNP with phenotypic parameters was analysed using either logistic or linear regression analysis. RESULTS:All anthropometric, clinical and metabolic factors as well as inflammatory and CVD risk biomarkers were higher in the obese than in the normal-BMI group, except adiponectin and HDL-c that were lower, and glucose, LDL-c, and metalloproteinase-9 that did not show difference. Four polymorphisms (rs9935401, rs9939609, rs9928094 and rs9930333) were positively associated with obesity and in linkage disequilibrium between each other; the haplotype including the risk alleles of these polymorphisms showed a high risk for obesity. The rs8061518 was negatively associated with obesity and the haplotype including this SNP and rs3826169, rs17818902 and rs7190053 showed a decreased risk for obesity. Additionally, the rs8061518 was associated with weight, diastolic blood pressure, insulin, homeostatic model assessment of insulin resistance, leptin, and active plasminogen inhibitor activator-1 after sex and age adjustment; however, after an additional BMI adjustment, this polymorphism remained associated only with leptin. CONCLUSIONS:We validated the previous reported association of genetic variability in intron 1 of the FTO gene with the risk of obesity and found no association with other related traits in this region of the gene. We have observed strong statistical evidence for an association of rs8061518 in intron 3 of the gene with decreased risk of obesity and low concentration of leptin.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Olza J,Ruperez AI,Gil-Campos M,Leis R,Fernandez-Orth D,Tojo R,Cañete R,Gil A,Aguilera CM

doi

10.1186/1471-2350-14-123

subject

Has Abstract

pub_date

2013-12-01 00:00:00

pages

123

issn

1471-2350

pii

1471-2350-14-123

journal_volume

14

pub_type

杂志文章,多中心研究
  • Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.

    abstract:BACKGROUND:The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocyto...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-014-0111-8

    authors: Bayley JP,Oldenburg RA,Nuk J,Hoekstra AS,van der Meer CA,Korpershoek E,McGillivray B,Corssmit EP,Dinjens WN,de Krijger RR,Devilee P,Jansen JC,Hes FJ

    更新日期:2014-10-10 00:00:00

  • Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases.

    abstract:BACKGROUND:Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-14-88

    authors: Hemminki K,Li X,Försti A,Sundquist J,Sundquist K

    更新日期:2013-09-03 00:00:00

  • ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis.

    abstract:BACKGROUND:Rs189037 (G > A) is a functional single nucleotide polymorphism (SNP) in the Ataxia-telangiectasia mutated (ATM) gene that may be associated with the risk of cancer. We performed a meta-analysis to determine whether rs189037 polymorphism influences the occurrence of cancer and examined the relationship betwe...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,meta分析

    doi:10.1186/s12881-019-0760-8

    authors: Zhao ZL,Xia L,Zhao C,Yao J

    更新日期:2019-02-01 00:00:00

  • Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia.

    abstract:BACKGROUND:Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells. METHODS:We performed a mutational analysis to identify AML somatic mutations using the whole-exome sequencing data of 36 tumor-normal sam...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0382-y

    authors: Heo SG,Koh Y,Kim JK,Jung J,Kim HL,Yoon SS,Park JW

    更新日期:2017-03-01 00:00:00

  • Associations between variants on ADIPOQ and ADIPOR1 with colorectal cancer risk: a Chinese case-control study and updated meta-analysis.

    abstract:BACKGROUND:Epidemiological studies have suggested that variants on adiponectin (ADIPOQ) and its receptor ADIPOR1 (adiponectin receptor 1) are associated with colorectal cancer (CRC) risk; however, the results were inconclusive. The aim of the study was to evaluate the associations between the variants on ADIPOQ and ADI...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,meta分析

    doi:10.1186/s12881-014-0137-y

    authors: Ou Y,Chen P,Zhou Z,Li C,Liu J,Tajima K,Guo J,Cao J,Wang H

    更新日期:2014-12-17 00:00:00

  • CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

    abstract:BACKGROUND:CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combi...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-015-0225-7

    authors: Pisaneschi E,Sirleto P,Lepri FR,Genovese S,Dentici ML,Petrocchi S,Angioni A,Digilio MC,Dallapiccola B

    更新日期:2015-09-03 00:00:00

  • Genetic susceptibility of intervertebral disc degeneration among young Finnish adults.

    abstract:BACKGROUND:Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defin...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-153

    authors: Kelempisioti A,Eskola PJ,Okuloff A,Karjalainen U,Takatalo J,Daavittila I,Niinimäki J,Sequeiros RB,Tervonen O,Solovieva S,Kao PY,Song YQ,Cheung KM,Chan D,Ala-Kokko L,Järvelin MR,Karppinen J,Männikkö M

    更新日期:2011-11-22 00:00:00

  • Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

    abstract:BACKGROUND:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and mol...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-018-0548-2

    authors: López M,García-Oguiza A,Armstrong J,García-Cobaleda I,García-Miñaur S,Santos-Simarro F,Seidel V,Domínguez-Garrido E

    更新日期:2018-03-05 00:00:00

  • X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.

    abstract:BACKGROUND:Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported. CASE PRESENTATION:A 27-year-old man presented with CN and congenital cataracts and he underwent cat...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,评审

    doi:10.1186/s12881-019-0780-4

    authors: Yan N,Xiao L,Hou C,Guo B,Fan W,Deng Y,Ma K

    更新日期:2019-03-19 00:00:00

  • A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

    abstract:BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-019-0803-1

    authors: Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

    更新日期:2019-06-07 00:00:00

  • A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.

    abstract:BACKGROUND:Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mut...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-7-73

    authors: Thakur N,Reddy DN,Rao GV,Mohankrishna P,Singh L,Chandak GR

    更新日期:2006-09-30 00:00:00

  • HLA haplotypes associated with hemochromatosis mutations in the Spanish population.

    abstract:BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-5-25

    authors: Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

    更新日期:2004-10-21 00:00:00

  • Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation.

    abstract:BACKGROUND:The mitochondrial voltage-dependent anion channel (VDAC) is increasingly implicated in the control of apoptosis. We have studied the effects the mitochondrial DNA (mtDNA) tRNAIle mutation on VDAC expression, localization, and apoptosis. METHODS:Lymphoblastoid cell lines were derived from 3 symptomatic and 1...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-10-114

    authors: Yuqi L,Lei G,Yang L,Zongbin L,Hua X,Lin W,Rui C,Mohan L,Yi W,Minxin G,Shiwen W

    更新日期:2009-11-09 00:00:00

  • A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.

    abstract:BACKGROUND:Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation. METHODS:A four-generation Chinese family diagnosed with autosomal dominant congenit...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-018-0695-5

    authors: Song Z,Si N,Xiao W

    更新日期:2018-10-19 00:00:00

  • Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.

    abstract:BACKGROUND:Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless of race, a widespread founder mutation causing LGMD2C has been described in North Africa. However, th...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-11-49

    authors: Okizuka Y,Takeshima Y,Itoh K,Zhang Z,Awano H,Maruyama K,Kumagai T,Yagi M,Matsuo M

    更新日期:2010-03-30 00:00:00

  • Estrogen and progesterone-related gene variants and colorectal cancer risk in women.

    abstract:BACKGROUND:Observational studies and randomized trials have suggested that estrogens and/or progesterone may lower the risk for colorectal cancer. Inherited variation in the sex-hormone genes may be one mechanism by which sex hormones affect colorectal cancer, although data are limited. METHOD:We conducted a comprehen...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-78

    authors: Lin JH,Manson JE,Kraft P,Cochrane BB,Gunter MJ,Chlebowski RT,Zhang SM

    更新日期:2011-05-31 00:00:00

  • Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

    abstract:BACKGROUND:Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normall...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0400-0

    authors: Tang F,Ma D,Wang Y,Qiu Y,Liu F,Wang Q,Lu Q,Shi M,Xu L,Liu M,Liang J

    更新日期:2017-03-23 00:00:00

  • Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes.

    abstract:BACKGROUND:Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the entire AVPR2 locus and...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-9-42

    authors: Fujimoto M,Imai K,Hirata K,Kashiwagi R,Morinishi Y,Kitazawa K,Sasaki S,Arinami T,Nonoyama S,Noguchi E

    更新日期:2008-05-20 00:00:00

  • LRCH1 polymorphisms linked to delayed encephalopathy after acute carbon monoxide poisoning identified by GWAS analysis followed by Sequenom MassARRAY® validation.

    abstract:BACKGROUND:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-019-0931-7

    authors: Gu J,Zeng J,Wang X,Gu X,Zhang X,Zhang P,Zhang F,Han Y,Han Y,Zhang H,Li W,Gu R

    更新日期:2019-12-16 00:00:00

  • A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

    abstract:BACKGROUND:Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessiv...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0404-9

    authors: Bordbar MR,Modarresi F,Farazi Fard MA,Dastsooz H,Shakib Azad N,Faghihi MA

    更新日期:2017-05-03 00:00:00

  • A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.

    abstract:BACKGROUND:A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affec...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-15-25

    authors: Mir H,Raza SI,Touseef M,Memon MM,Khan MN,Jaffar S,Ahmad W

    更新日期:2014-02-26 00:00:00

  • Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.

    abstract:BACKGROUND:Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects. Traditionally, their diagnosis and characterization has largely relied on conventional cytogenetics and fluorescence in situ hybridization, array-based comparative gen...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-015-0206-x

    authors: Ji X,Liang D,Sun R,Liu C,Ma D,Wang Y,Hu P,Xu Z

    更新日期:2015-07-30 00:00:00

  • Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).

    abstract:BACKGROUND:Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment and follow-up. A recent genome-wide association study revealed four genetic loci, which were associated...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-20

    authors: Hertel JK,Johansson S,Ræder H,Platou CG,Midthjell K,Hveem K,Molven A,Njølstad PR

    更新日期:2011-02-04 00:00:00

  • Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

    abstract:BACKGROUND:A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Indian women. We investigated the distribution and the nature of BRCA1 and BRCA2 germline mutations and po...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-7-75

    authors: Saxena S,Chakraborty A,Kaushal M,Kotwal S,Bhatanager D,Mohil RS,Chintamani C,Aggarwal AK,Sharma VK,Sharma PC,Lenoir G,Goldgar DE,Szabo CI

    更新日期:2006-10-04 00:00:00

  • A validation of the first genome-wide association study of calcaneus ultrasound parameters in the European Male Ageing Study.

    abstract:BACKGROUND:A number of single nucleotide polymorphisms (SNPs) have been associated with broadband ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in independent stu...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-19

    authors: Roshandel D,Thomson W,Pye SR,Boonen S,Borghs H,Vanderschueren D,Huhtaniemi IT,Adams JE,Ward KA,Bartfai G,Casanueva F,Finn JD,Forti G,Giwercman A,Han TS,Kula K,Lean ME,Pendleton N,Punab M,Silman AJ,Wu FC,Holliday

    更新日期:2011-01-28 00:00:00

  • Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

    abstract:BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-019-0920-x

    authors: Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

    更新日期:2019-11-21 00:00:00

  • Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

    abstract:BACKGROUND:Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS:We performed high-density genomewide linkage analysis and mutation screening of candidate genes t...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-87

    authors: Boyden SE,Duncan AR,Estrella EA,Lidov HG,Mahoney LJ,Katz JS,Kunkel LM,Kang PB

    更新日期:2011-06-28 00:00:00

  • A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma - a case report.

    abstract:BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01129-4

    authors: Radman M,Milicevic T

    更新日期:2020-09-29 00:00:00

  • A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture.

    abstract:BACKGROUND:The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a non-synonymous Arg264Cy...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-165

    authors: Wang JZ,Deogan MS,Lewis JR,Chew S,Mullin BH,McNab TJ,Wilson SG,Ingley E,Prince RL

    更新日期:2011-12-20 00:00:00

  • Relationship between TGF-β1 + 869 T/C and + 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients.

    abstract:BACKGROUND:This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and iden...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,meta分析,评审

    doi:10.1186/s12881-019-0847-2

    authors: Li HY,Zhou T,Lin S,Lin W

    更新日期:2019-06-25 00:00:00