A common variant near the PRL gene is associated with increased adiposity in males.

Abstract:

:A common variant (rs4712652) adjacent to the prolactin gene was recently associated with obesity using a genome-wide association study. The aim of this study was to replicate the association between rs4712652 and obesity and further examine if rs4712652 is associated with fat percentage and adiponectin levels in a population based Scandinavian cohort. rs4712652 was genotyped in 4879 participants (mean BMI 26.5±4.5 kg/m(2)) from the population-based PPP-Botnia Study and related to BMI, fat percentage and adiponectin levels. We found that the risk A allele of rs4712652 is associated with increased BMI and fat percentage in males (P=0.0047 and P=0.025, respectively), but not in females (P=0.98, P=0.45). Male A allele carriers have a higher risk of being overweight with an OR of 1.16 (P=0.025). While there was a significant negative correlation between adiponectin levels and fat percentage (r=-0.36; P=0.039) in male carriers of the protective GG genotype, this correlation was lost in male carriers of the risk rs4712652 A allele (P=0.33). Thus, the common SNP rs4712652 near the PRL gene seems to affect body fat and adiposity in a sex-specific fashion. It remains to be shown whether this is mediated by different prolactin concentrations or differences in tissue sensitivity to prolactin.

journal_name

Mol Genet Metab

authors

Nilsson L,Olsson AH,Isomaa B,Groop L,Billig H,Ling C

doi

10.1016/j.ymgme.2010.08.017

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

78-81

issue

1

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(10)00316-1

journal_volume

102

pub_type

杂志文章
  • TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.

    abstract::TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA. Biallelic pathogenic variants in TRMU are associated with transient infantile liver failure. Other less common presentations such as Leigh syndrom...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2021.01.005

    authors: Murali CN,Soler-Alfonso C,Loomes KM,Shah AA,Monteil D,Padilla CD,Scaglia F,Ganetzky R

    更新日期:2021-01-14 00:00:00

  • The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.

    abstract:BACKGROUND:Sapropterin dihydrochloride (BH4, tetrahydrobiopterin) can lower plasma phenylalanine (Phe) concentrations for a subset of patients with phenylketonuria (PKU), an inborn error of metabolism. Studies suggest that monoamine neurotransmitter concentrations are low in PKU patients. Sapropterin functions as a cof...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2013.04.017

    authors: Douglas TD,Jinnah HA,Bernhard D,Singh RH

    更新日期:2013-07-01 00:00:00

  • Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.

    abstract::Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated transient transfection of the normal human PCCA or PCCB cDNA into prim...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2001.3296

    authors: Rodriguez-Pombo P,Pérez-Cerdá C,Desviat LR,Pérez B,Ugarte M,Rodríguez-Pombo P

    更新日期:2002-03-01 00:00:00

  • Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

    abstract:PURPOSE:Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2016.08.009

    authors: O'Brien KJ,Lozier J,Cullinane AR,Osorio B,Nghiem K,Speransky V,Zein WM,Mullikin JC,Neff AT,Simon KL,Malicdan MC,Gahl WA,Young LR,Gochuico BR

    更新日期:2016-11-01 00:00:00

  • Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI.

    abstract::Degenerative joint disease (DJD) is one aspect of mucopolysaccharidosis VI (MPS VI) pathology that has proven resistant to systemic enzyme replacement therapy (ERT). In this study the effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase (rh4S) on DJD was examined....

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.04.009

    authors: Auclair D,Hopwood JJ,Lemontt JF,Chen L,Byers S

    更新日期:2007-08-01 00:00:00

  • Rare Saposin A deficiency: Novel variant and psychosine analysis.

    abstract::Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe diseas...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2019.08.001

    authors: Calderwood L,Wenger DA,Matern D,Dahmoush H,Watiker V,Lee C

    更新日期:2020-02-01 00:00:00

  • Glycan-based biomarkers for mucopolysaccharidoses.

    abstract::The mucopolysaccharidoses (MPS) result from attenuation or loss of enzyme activities required for lysosomal degradation of the glycosaminoglycans, hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, and keratan sulfate. This review provides a summary of glycan biomarkers that have been used to characterize anim...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2013.07.016

    authors: Lawrence R,Brown JR,Lorey F,Dickson PI,Crawford BE,Esko JD

    更新日期:2014-02-01 00:00:00

  • Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

    abstract::Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few sym...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2019.03.003

    authors: Yanagisawa H,Hossain MA,Miyajima T,Nagao K,Miyashita T,Eto Y

    更新日期:2019-04-01 00:00:00

  • Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.

    abstract::Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure. In the classical ph...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2012.08.003

    authors: Pisani A,Visciano B,Roux GD,Sabbatini M,Porto C,Parenti G,Imbriaco M

    更新日期:2012-11-01 00:00:00

  • Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).

    abstract::The tissue specificity of mitochondrial diseases is poorly understood. Recently, tissue-specific quantitative differences of the components of the mitochondrial translation system have been found to correlate with disease presentation in fatal hepatopathy caused by mutations in mitochondrial translation factor EFG1. M...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.02.006

    authors: Bykhovskaya Y,Mengesha E,Fischel-Ghodsian N

    更新日期:2007-06-01 00:00:00

  • Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.

    abstract:BACKGROUND:Treatment of Fabry disease (FD) with recombinant alpha-galactosidase A (r-αGAL A) is complicated by the formation of anti-drug antibodies in the majority of male patients with the classical disease phenotype. Detailed information regarding antibody subtypes, onset and persistence of antibody development and ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2018.11.008

    authors: van der Veen SJ,van Kuilenburg ABP,Hollak CEM,Kaijen PHP,Voorberg J,Langeveld M

    更新日期:2019-02-01 00:00:00

  • Polygenic association with total homocysteine in the post-folic acid fortification era: the CARDIA study.

    abstract::Elevated plasma concentration of total homocysteine (tHcy) has been linked with many diseases. tHcy is associated with a variety of factors, including polymorphisms in genes involved in homocysteine metabolism. It is not clear whether US-mandated fortification of grain products with folic acid has affected the associa...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2009.05.012

    authors: Tsai MY,Loria CM,Cao J,Kim Y,Siscovick DS,Schreiner PJ,Hanson NQ

    更新日期:2009-09-01 00:00:00

  • Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

    abstract::Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of pro...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2012.01.001

    authors: Würde AE,Reunert J,Rust S,Hertzberg C,Haverkämper S,Nürnberg G,Nürnberg P,Lehle L,Rossi R,Marquardt T

    更新日期:2012-04-01 00:00:00

  • CYP gene polymorphisms and early menarche.

    abstract::Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2001.3260

    authors: Lai J,Vesprini D,Chu W,Jernström H,Narod SA

    更新日期:2001-12-01 00:00:00

  • The -374A allele of the receptor for advanced glycation end products gene is associated with a decreased risk of ischemic heart disease in African-Brazilians with type 2 diabetes.

    abstract::Three functional polymorphisms described in the promoter of receptor for advanced glycation end products (RAGE) gene were shown to have a marked effect on transcriptional activity. The few studies which analyzed the relationship between these three polymorphisms and the diabetic complications have shown conflicting re...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2005.02.010

    authors: dos Santos KG,Canani LH,Gross JL,Tschiedel B,Pires Souto KE,Roisenberg I

    更新日期:2005-06-01 00:00:00

  • Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

    abstract::In mammals, the conversion of alpha-aminoadipate to alpha-ketoadipate by alpha-aminoadipate aminotransferase (AADAT) is an intermediate step in lysine degradation. A gene encoding for alpha-aminoadipate aminotransferase and kynurenine aminotransferase activities had been previously identified in the rat (KAT/AadAT). W...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/s1096-7192(02)00037-9

    authors: Goh DL,Patel A,Thomas GH,Salomons GS,Schor DS,Jakobs C,Geraghty MT

    更新日期:2002-07-01 00:00:00

  • Low plasma total cholesterol in patients with Huntington's disease and first-degree relatives.

    abstract::Recent studies indicate altered cholesterol homeostasis in Huntington's disease (HD) after it was found that cultured human and mice cells expressing mutant huntingtin show reduced mRNA of cholesterol biosynthetic enzymes. Plasma total cholesterol (TC) levels have been connected to degenerative disorders, but data for...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.10.002

    authors: Markianos M,Panas M,Kalfakis N,Vassilopoulos D

    更新日期:2008-03-01 00:00:00

  • Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.

    abstract::Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA) leading to progressive myopathy. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA has limitations, including inefficient uptake of rhGAA in skeletal muscle linked to low cation-independent mannose-6-phosphate receptor (CI-M...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2019.10.005

    authors: Han SO,Haynes AC,Li S,Abraham DM,Kishnani PS,Steet R,Koeberl DD

    更新日期:2020-02-01 00:00:00

  • Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.

    abstract:BACKGROUND:Rare sequence variants in at least five genes are known to cause monogenic obesity. In this study we aimed to investigate the prevalence of, and characterize, rare coding and splice site variants in LEP, LEPR, MC4R, PCSK1 and POMC in patients with morbid obesity and normal weight controls. METHOD:Targeted n...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2017.03.007

    authors: Nordang GBN,Busk ØL,Tveten K,Hanevik HI,Fell AKM,Hjelmesæth J,Holla ØL,Hertel JK

    更新日期:2017-05-01 00:00:00

  • Approach to gene therapy of glycogenosis type II (Pompe disease).

    abstract::Pompe disease is a generalized lysosomal glycogenosis affecting essentially the skeletal muscles and the heart. It is due to the deficiency of acid alpha-glucosidase, also called acid maltase, involved in glycogen degradation by the cleavage of alpha-1,4 and alpha-1,6 glycosidic linkages. The severe infantile, milder ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1006/mgme.2000.3003

    authors: Poenaru L

    更新日期:2000-07-01 00:00:00

  • Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

    abstract::Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of develop...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2014.06.004

    authors: Burrage LC,Tang S,Wang J,Donti TR,Walkiewicz M,Luchak JM,Chen LC,Schmitt ES,Niu Z,Erana R,Hunter JV,Graham BH,Wong LJ,Scaglia F

    更新日期:2014-11-01 00:00:00

  • High prevalence of overweight and obesity in females with phenylketonuria.

    abstract::The primary treatment for phenylketonuria (PKU) is a low phenylalanine diet together with an amino acid-based, phenylalanine-free formula. Thus, PKU patients tend to consume a diet enriched in carbohydrates which could predispose to obesity. Studies in the 1980s and 1990s demonstrated that school-age phenylketonuria (...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2012.07.006

    authors: Burrage LC,McConnell J,Haesler R,O'Riordan MA,Sutton VR,Kerr DS,McCandless SE

    更新日期:2012-09-01 00:00:00

  • Propionyl-CoA carboxylase - A review.

    abstract::Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual present...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2017.10.002

    authors: Wongkittichote P,Ah Mew N,Chapman KA

    更新日期:2017-12-01 00:00:00

  • Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.

    abstract:BACKGROUND:Urea cycle disorders are caused by dysfunction in any of the six enzymes and two transport proteins involved in urea biosynthesis. Our study focuses on ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results in a dysfunctional mitochondrial enzyme, which prevents the synthesis of citr...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2014.05.007

    authors: Sprouse C,King J,Helman G,Pacheco-Colón I,Shattuck K,Breeden A,Seltzer R,VanMeter JW,Gropman AL

    更新日期:2014-09-01 00:00:00

  • Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis.

    abstract::Glut-1 facilitates the diffusion of glucose across the blood-brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized in its most severe form by infantile seizures, developm...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.03.007

    authors: Levy B,Wang D,Ullner PM,Engelstad K,Yang H,Nahum O,Chung WK,De Vivo DC

    更新日期:2010-06-01 00:00:00

  • Bacterial species identification after DNA amplification with a universal primer pair.

    abstract::The diagnosis of bacterial infections can be difficult and time consuming. Rapid and reliable molecular triage of potentially infected patients, particularly the young and the elderly, would prevent unnecessary hospitalizations, reduce associated medical costs, and improve the quality of care. Polymerase chain reactio...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1998.2795

    authors: McCabe KM,Zhang YH,Huang BL,Wagar EA,McCabe ER

    更新日期:1999-03-01 00:00:00

  • Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.

    abstract::Tetrahydrobiopterin (BH(4)) is widely used as a therapeutic agent in patients with BH(4) deficiencies and mild forms of phenylketonuria (PKU) and there is an increasing need for the measurement of its plasma concentrations in patients with cardiovascular disorders. We measured BH(4) and total biopterin in dithioerythr...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2003.09.014

    authors: Fiege B,Ballhausen D,Kierat L,Leimbacher W,Goriounov D,Schircks B,Thöny B,Blau N

    更新日期:2004-01-01 00:00:00

  • Lipolysis and the integrated physiology of lipid energy metabolism.

    abstract::Fat cell lipolysis, the cleavage of triglycerides and release of fatty acids and glycerol, evolved to enable survival during prolonged food deprivation but is paradoxically increased in obesity, in which a surfeit of all energy metabolites is found. Essential, previously-unsuspected components have been discovered in ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2008.06.012

    authors: Wang S,Soni KG,Semache M,Casavant S,Fortier M,Pan L,Mitchell GA

    更新日期:2008-11-01 00:00:00

  • The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes.

    abstract::The mutation T3308C results in a Met --> Thr change at the highly conserved amino acid position 1 of the mtDNA ND1 gene (M1T). To study its potential pathogenic effect we have carried out a combination of mitochondrial protein synthesis and Northern and Western analyses. Our data demonstrate that M1T mutation does not...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2000.3005

    authors: Fernández-Moreno MA,Bornstein B,Campos Y,Arenas J,Garesse R

    更新日期:2000-07-01 00:00:00

  • Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

    abstract::D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of D-2-HGA is defined by the accumulation of abnormal amounts of D-2-hydroxyglutarate in cerebrospinal ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2005.06.005

    authors: Misra VK,Struys EA,O'brien W,Salomons GS,Glover T,Jakobs C,Innis JW

    更新日期:2005-09-01 00:00:00