The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes: an analysis of the m.4216T > C and m.4917A > G variants.


:The aims of this study were to investigate the contributions of the mitochondrial DNA m.4216T > C and m.4917A > G variants, and also of the European-specific mitochondrial cluster J/T, to the development of type 2 diabetes mellitus in Caucasian-Brazilian patients from Southern Brazil. We analyzed 347 type 2 diabetes patients and 350 control subjects. Variant frequencies in patients and control subjects were compared using chi2 tests or odds ratio. We also compared clinical and laboratory characteristics among patients with and without the variants. We found that the frequencies of the m.4216T > C and m.4917A > G variants are higher in diabetic patients than in control subjects. Moreover, haplogroups J (partially defined by the presence of the m.4216T > C variant only) and T (partially defined by the presence of both m.4216T > C and m.4917A > G variants) are more frequent in the type 2 diabetic group than in the control group. Patients belonging to the cluster J/T are more insulin resistant than patients of other haplogroups. In conclusion, our results indicate the association of the cluster J/T (as suggested by analyses of the m.4216T > C and m.4917A > G variants) with insulin resistance and type 2 diabetes.


Ann Hum Genet


Annals of human genetics


Crispim D,Canani LH,Gross JL,Tschiedel B,Souto KE,Roisenberg I




Has Abstract


2006-07-01 00:00:00




Pt 4










  • Regression-based multivariate linkage analysis with an application to blood pressure and body mass index.

    abstract::Multivariate linkage analysis has been suggested for the analysis of correlated traits, such as blood pressure (BP) and body mass index (BMI), because it may offer greater power and provide clearer results than univariate analyses. Currently, the most commonly used multivariate linkage methods are extensions of the un...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Wang T,Elston RC

    更新日期:2007-01-01 00:00:00

  • Determination of probability distribution of diplotype configuration (diplotype distribution) for each subject from genotypic data using the EM algorithm.

    abstract::Haplotype analysis is important for mapping traits. Recently, methods for estimating haplotype frequencies from genotypes of unrelated individuals based on the expectation-maximization (EM) algorithm have been developed. Our program estimates haplotype frequencies in the population and determines the posterior probabi...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Kitamura Y,Moriguchi M,Kaneko H,Morisaki H,Morisaki T,Toyama K,Kamatani N

    更新日期:2002-05-01 00:00:00

  • The effect of genetic admixture in an association study: genetic polymorphisms and chromosome aberrations in a Colombian population exposed to organic solvents.

    abstract::The human population is heterogeneous in genetic susceptibility, chromosomal instability and disease risk; all factors which depend on inherited genetic constitution and acquired nongenetic environmental and occupational factors. Recently, special attention has been directed to the identification of sources of potenti...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Hoyos-Giraldo LS,Escobar-Hoyos LF,Reyes-Carvajal I,García JJ,Córdoba L,Gómez AS,García-Vallejo F,Cajas-Salazar N,Carvajal S,Bedoya G

    更新日期:2013-07-01 00:00:00

  • Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.

    abstract:INTRODUCTION:Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagno...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Alsubaie L,Aloraini T,Amoudi M,Swaid A,Eyiad W,Al Mutairi F,Ababneh F,Alrifai MT,Baarmah D,Altwaijri W,Alotaibi N,Harthi A,Rumayyan A,Alanazi A,Qrimli M,Alfadhel M,Alfares A

    更新日期:2020-11-01 00:00:00

  • A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI Zbristol) associated with novel electrophoretic properties.

    abstract::A new AAT allele (PI Zbristol) has been discovered in a woman with an obstetric history of three perinatal deaths from fulminant liver disease and no living offspring. She and her father were both PI M1Zbristol heterozygotes. The Zbristol protein is active as a proteinase inhibitor but appeared to be deficient in the ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Lovegrove JU,Jeremiah S,Gillett GT,Temple IK,Povey S,Whitehouse DB

    更新日期:1997-09-01 00:00:00

  • Mitochondrial DNA diversity in the Polish Roma.

    abstract::Mitochondrial DNA variability in the Polish Roma population has been studied by means of hypervariable segment I and II (HVS I and II) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondria...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Malyarchuk BA,Grzybowski T,Derenko MV,Czarny J,Miścicka-Sliwka D

    更新日期:2006-03-01 00:00:00

  • De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.

    abstract::A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique features, including a wide variety of mutations, reduced penetrance, ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Momose Y,Aimi Y,Hirayama T,Kataoka M,Ono M,Yoshino H,Satoh T,Gamou S

    更新日期:2015-03-01 00:00:00

  • Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).

    abstract::Genome-wide association studies have separately identified four single nucleotide polymorphisms (SNPs) on chromosome 9p21 that confer susceptibility to coronary artery disease (CAD) and myocardial infarction (MI). This study presents the first analysis of these SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) i...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Abdullah KG,Li L,Shen GQ,Hu Y,Yang Y,MacKinlay KG,Topol EJ,Wang QK

    更新日期:2008-09-01 00:00:00

  • Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.

    abstract::The CACH/VWM syndrome is an autosomal recessive leukodystrophy characterized by a broad spectrum of clinical presentations and by diffuse cavitary degeneration of the white matter on MRI. Mutations responsible for this disorder are missense or frameshift mutations occurring in the five genes (EIF2B1-5) that encode the...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Horzinski L,Gonthier C,Rodriguez D,Scherer C,Boespflug-Tanguy O,Fogli A

    更新日期:2008-05-01 00:00:00

  • Candidate molecular pathway genes related to appetite regulatory neural network, adipocyte homeostasis and obesity: results from the CARDIA Study.

    abstract::Appetite regulatory neural network and adipocyte homeostasis molecular pathways are critical to long-term weight maintenance. Associations between obesity-related phenotypes and four genes in these pathways - leptin (LEP), leptin receptor (LEPR), neuropeptide Y2 receptor (NPY2R) and peptide YY (PYY) were examined in C...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Friedlander Y,Li G,Fornage M,Williams OD,Lewis CE,Schreiner P,Pletcher MJ,Enquobahrie D,Williams M,Siscovick DS

    更新日期:2010-09-01 00:00:00

  • Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis.

    abstract::We have investigated 31 families segregation for Hunter Syndrome in order to advance our understanding of the genetics of this disease. The hair root test for the diagnosis of carriers of Hunter Syndrome was improved by the adoption of a new diagnostic index that distinguishes between carrier and normal females better...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Chase DS,Morris AH,Ballabio A,Pepper S,Giannelli F,Adinolfi M

    更新日期:1986-10-01 00:00:00

  • Inheritance and linkage data for an unusual combination of genes (at the LKE, PI and C6 loci) in a single large sibship.

    abstract::Analysis of the groups of a large sibship showed that the locus for the blood group LKE is not closely linked to the loci for MNS, Rh, HLA, Pi, Gm and C6 and is genetically independent of the loci for P1, K, Xg, Au, secretor, and C3. The locus for the Auberger (Au) blood group was shown to be genetically independent o...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Whitehouse DB,Attwood J,Green C,Bruce M,McQuade M,Tippett P

    更新日期:1988-07-01 00:00:00

  • On the performance of multiple imputation based on chained equations in tackling missing data of the African α3.7 -globin deletion in a malaria association study.

    abstract::Multiple imputation based on chained equations (MICE) is an alternative missing genotype method that can use genetic and nongenetic auxiliary data to inform the imputation process. Previously, MICE was successfully tested on strongly linked genetic data. We have now tested it on data of the HBA2 gene which, by the exp...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Sepúlveda N,Manjurano A,Drakeley C,Clark TG

    更新日期:2014-07-01 00:00:00

  • Genetic Obesity Risk and Attenuation Effect of Physical Fitness in Mexican-Mestizo Population: a Case-Control Study.

    abstract::We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n  =  608) with body mass index (BMI) ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Costa-Urrutia P,Abud C,Franco-Trecu V,Colistro V,Rodríguez-Arellano ME,Vázquez-Pérez J,Granados J,Seelaender M

    更新日期:2017-05-01 00:00:00

  • Evolution of the apolipoprotein B gene and coronary artery disease: a study in low and high risk Asians.

    abstract::This study traces the evolutionary pathways of the apolipoprotein B gene in the low risk Chinese and high risk Asian Indians in relation to coronary artery disease (CAD). Haplotypes were constructed from six apoB polymorphisms sp24/27, Ag(c/g), Ag(a1/d), XbaI, Ag(h/i) and, Ag(t/z). These were genotyped from 474 Chines...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Heng CK,Saha N,Low PS

    更新日期:1999-01-01 00:00:00

  • A G-band study of chromosomes in liveborn infants.

    abstract::The results of a chromosome survey of 3993 liveborn infants, the majority of which have been studied using G-banding, are reported. The frequency of all types of chromosome abnormalities detected was similar to that found in previous newborn surveys, which were carried out on different socio-economic structure, but th...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Buckton KE,O'Riordan ML,Ratcliffe S,Slight J,Mitchell M,McBeath S,Keay AJ,Barr D,Short M

    更新日期:1980-01-01 00:00:00

  • Case-control association tests correcting for population stratification.

    abstract::In case-control association studies unobserved population stratification may act as a confounder, leading to an increased number of false positive results. Methods accounting for population structure by using additional genetic markers broadly follow one of two concepts: Genomic Control (GC) and Structured Association...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Köhler K,Bickeböller H

    更新日期:2006-01-01 00:00:00

  • Genetic linkage between the Kell blood group system and prolactin-inducible protein loci: provisional assignment of KEL to chromosome 7.

    abstract::The Kell blood group locus (KEL) is tightly linked to the prolactin-inducible protein locus (PIP) with zeta = 9.12 at theta = 0.00 for combined paternal and maternal meioses. In view of the regional localization of PIP to 7q32-q36 (Myal et al. 1989a), a similar assignment for KEL is favoured. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Zelinski T,Coghlan G,Myal Y,Shiu RP,Philipps S,White L,Lewis M

    更新日期:1991-05-01 00:00:00

  • Surnames, HLA genes and ancient migrations in the Po Valley (Italy).

    abstract::Population samples from Liguria, Piacenza and Pavia provinces, and North Lombardy are compared for surnames and HLA gene frequencies. The genetic structure inferred from the principal coordinate analysis of surname frequencies is different from that inferred from HLA gene frequencies. The latter may represent ancient ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Guglielmino CR,De Silvestri A,Rossi A,De Micheli V

    更新日期:1998-05-01 00:00:00

  • Joint Analysis of Multiple Traits in Rare Variant Association Studies.

    abstract::The joint analysis of multiple traits has recently become popular since it can increase statistical power to detect genetic variants and there is increasing evidence showing that pleiotropy is a widespread phenomenon in complex diseases. Currently, the majority of existing methods for the joint analysis of multiple tr...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Wang Z,Wang X,Sha Q,Zhang S

    更新日期:2016-05-01 00:00:00

  • Further characterization of the human fumarase variant, FH 2--1.

    abstract::1. Further investigation of fumarase using lymphoblastoid cells derived from an individual of the FH 2--1 phenotype has confirmed that the mitochondrial (FHM) and soluble (FHS) forms of fumarase are determined at the same structural locus. 2. The FH 2--1 variant is associated with enzyme deficiency: c. 70% of normal i...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Edwards YH,Hopkinson DA

    更新日期:1979-10-01 00:00:00

  • Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany.

    abstract::A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls f...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Klein C,Vieregge P,Hagenah J,Sieberer M,Doyle E,Jacobs H,Gasser T,Breakefield XO,Risch NJ,Ozelius LJ

    更新日期:1999-07-01 00:00:00

  • Linkage analysis and family classification under heterogeneity.

    abstract::Heterogeneity of the recombination fraction may or may not involve a mixture of two groups of elements. For the mixture situation (families with or without linkage between two gene loci), Morton's homogeneity test is compared with another test (Admixture test) with respect to significance level, power, parameter estim...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Ott J

    更新日期:1983-10-01 00:00:00

  • Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene.

    abstract::Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation bo...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Koda Y,Tachida H,Soejima M,Takenaka O,Kimura H

    更新日期:2004-03-01 00:00:00

  • Tests of association between quantitative traits and haplotypes in a reduced-dimensional space.

    abstract::Candidate gene association tests are currently performed using several intragenic SNPs simultaneously, by testing SNP haplotype or genotype effects in multifactorial diseases or traits. The number of haplotypes drastically increases with an increase in the number of typed SNPs. As a result, large numbers of haplotypes...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Sha Q,Dong J,Jiang R,Zhang S

    更新日期:2005-11-01 00:00:00

  • Ancient DNA and family relationships in a Pompeian house.

    abstract::Archaeological, anthropological and pathological data suggest that thirteen skeletons found in a house at the Pompeii archaeological site, dated to 79 A.D., belong to one family. To verify this and to identify the relationships between these individuals, we analyzed DNA extracted from bone specimens. Specifically, hyp...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Di Bernardo G,Del Gaudio S,Galderisi U,Cascino A,Cipollaro M

    更新日期:2009-07-01 00:00:00

  • Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

    abstract::Determination of activity and electrophoretic mobility of GALT in patients with various chromosome 9 deletions and duplications confirms the assignment of its locus to 9p and suggests its locus is in the segment 9cen leads to p22. Two inversions of 9qh (inv(9)(p11q12)) did not alter GALT expression. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Sparkes RS,Sparkes MC,Funderburk SJ,Moedjono S

    更新日期:1980-05-01 00:00:00

  • When the time seems ripe: eugenics, the annals, and the subtle persistence of typological thinking.

    abstract::This journal began in 1925 as the Annals of Eugenics. Much has changed since then. The original Editors' primary eugenic objective was not achieved, and eugenics justifiably became notorious for racism and gross abuse of human rights. But one founding aim was to publish advances in statistical genetics, and that objec...

    journal_title:Annals of human genetics

    pub_type: 历史文章,杂志文章,评审


    authors: Weiss KM,Lambert BW

    更新日期:2011-05-01 00:00:00

  • Alpha1 antitrypsin phenotypes in Northern Ireland.

    abstract::Serum alpha1 antitrypsin levels and phenotypes were examined in 1000 healthy adults in Northern Ireland. The Pi phenotype M accounted for 87-8% Pi MS for 7-3% and Pi MZ for 3-5%. The percentages of the rarer phenotypes were Pi FM 0-3, Pi IM 0-6, Pi SZ 0-4 and Pi Z--0-1. The range of alpha1 antitrypsin levels in differ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章


    authors: Blundell G,Frazer A

    更新日期:1975-01-01 00:00:00

  • Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

    abstract::The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from comparative mapping. At least eight groups had participated in the goal set...

    journal_title:Annals of human genetics



    authors: Povey S,Attwood J,Chadwick B,Frezal J,Haines JL,Knowles M,Kwiatkowski DJ,Olopade OI,Slaugenhaupt S,Spurr NK,Smith M,Steel K,White JA,Pericak-Vance MA

    更新日期:1997-05-01 00:00:00