Abstract:
:Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful approach to identify other obesity-susceptibility variants. We thus sought to identify novel genetic variants associated with obesity-related traits in the Mexican population by combining these methods. We performed a genome-wide linkage scan for body mass index (BMI) and other obesity-related phenotypes in 16 Mexican families using the Sequential Oligogenic Linkage Analysis Routines Program. Associated single-nucleotide polymorphisms (SNPs) were tested for associations in an independent cohort. Two suggestive BMI-linkage peaks (logarithm of odds ⩾1.5) were observed at chromosomal regions 11q13 and 13q22. Only rs614080 in the 11q13 region was significantly associated with BMI and related traits in these families. This association was also significant in an independent cohort of Mexican adults. Moreover, this variant was significantly associated with GSTP1 gene expression levels in adipose tissue. In conclusion, the rs614080 SNP near the GSTP1 gene was significantly associated with BMI and GSTP1 expression levels in the Mexican population.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Villamil-Ramírez H,León-Mimila P,Macias-Kauffer LR,Canizalez-Román A,Villalobos-Comparán M,León-Sicairos N,Vega-Badillo J,Sánchez-Muñoz F,López-Contreras B,Morán-Ramos S,Villarreal-Molina T,Zurita LC,Campos-Pérez F,Huertas-Vazqdoi
10.1038/jhg.2016.145subject
Has Abstractpub_date
2017-03-01 00:00:00pages
413-418issue
3eissn
1434-5161issn
1435-232Xpii
jhg2016145journal_volume
62pub_type
杂志文章abstract::Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic diso...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0451-x
更新日期:2018-07-01 00:00:00
abstract::During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-019-0671-8
更新日期:2020-01-01 00:00:00
abstract::Mutations in the voltage-gated chloride/proton antiporter ClC-5 gene, CLCN5, are associated with Dent's disease, an X-linked renal tubulopathy. Our interest is to identify and characterize disease-causing CLCN5 mutations, especially those that alter the splicing of the pre-mRNA. We analyzed the CLCN5 gene from nine un...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0112-y
更新日期:2007-01-01 00:00:00
abstract::Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which t...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.19
更新日期:2013-05-01 00:00:00
abstract::Lung epithelium plays a central role in modulation of the lung inflammatory response, and lung repair and airway epithelial cells are targets in asthma and viral infection. Activated T lymphocytes release cytokines such as interferon-gamma (IFN-gamma) that induce apoptosis, or programmed cell death, of damaged epithel...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0161-4
更新日期:2004-01-01 00:00:00
abstract::Intracellular concentrations of the nucleotide inosine triphosphate (ITP) are regulated by ITP-ase (EC 3.6.1.19), which is encoded by ITPA on chromosome 20p. Subjects with complete deficiency of ITP-ase activity (MIM 147520) have elevated ITP concentrations in erythrocytes, but no obvious clinical abnormalities. Based...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200095
更新日期:2002-01-01 00:00:00
abstract::Although large deletions in the dystrophin gene have been identified in more than two-thirds of Duchenne and Becker muscular dystrophy patients, the molecular mechanisms that lead to the generation of these deletions are largely unknown. Here, Alu and LINE-1 (L1) repetitive elements were shown to be present at one or ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070003
更新日期:2000-01-01 00:00:00
abstract::Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170042
更新日期:2001-01-01 00:00:00
abstract::Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mu...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.146
更新日期:2011-02-01 00:00:00
abstract::Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal transloca...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0158-z
更新日期:2004-01-01 00:00:00
abstract::Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0071-x
更新日期:2003-01-01 00:00:00
abstract::We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200072
更新日期:2002-01-01 00:00:00
abstract::Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2017.91
更新日期:2017-12-01 00:00:00
abstract::We examined the association of schizophrenia (SCZ) and dihydropyrimidinase-like 2 (DPYSL2), also known as collapsin response mediator protein 2, which regulates axonal growth and branching. We genotyped 20 tag single nucleotide polymorphisms (SNPs) in 1464 patients and 1310 controls. There were two potential associati...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.38
更新日期:2010-07-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-017-0403-x
更新日期:2018-04-01 00:00:00
abstract::Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare neurodegenerative disorder characterized by pontobulbar palsy and sensorineural hearing loss. Its mode of inheritance in affected families has usually been autosomal recessive, although autosomal dominant inheritance and incomplete penetrance have also been repo...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.70
更新日期:2012-09-01 00:00:00
abstract::Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by th...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170033
更新日期:2001-01-01 00:00:00
abstract::The prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.93
更新日期:2009-11-01 00:00:00
abstract::Erythropoietic protoporphyria (EPP) is an inherited disorder, caused by a partial deficiency of ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway. The deficiency results in accumulation of protoporphyrin, primarily in erythroid cells, and the major clinical feature is cutaneous photosensitivity. ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380300009
更新日期:2003-01-01 00:00:00
abstract::A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.47
更新日期:2010-06-01 00:00:00
abstract::We found a novel A-->C change in codon 511 of the ARNT gene, which predicted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplification using mismatched primers allowed the ARNT D/N511 polymorphism to be detected by digestion with endonuclease Tth111I. The frequency of the ARNT N511 allele was 0.019 i...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050018
更新日期:2000-01-01 00:00:00
abstract::Cytokines, having central functions in immunological and inflammatory process, are always expected to play important roles in the pathogenesis of various diseases, such as asthma. Genetic polymorphisms of those cytokine and cytokine receptor genes are the focus of genetic association studies. In an effort to identify ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0184-x
更新日期:2004-01-01 00:00:00
abstract::Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200043
更新日期:2002-01-01 00:00:00
abstract::Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0809-8
更新日期:2020-10-09 00:00:00
abstract::Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0773-3
更新日期:2020-10-01 00:00:00
abstract::Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial nerve involvement. This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients...
journal_title:Journal of human genetics
pub_type: 临床试验,杂志文章
doi:10.1038/s10038-019-0636-y
更新日期:2019-09-01 00:00:00
abstract::WNK lysine-deficient protein kinase 1 (WNK1) is a member of the WNK family of serine/threonine kinases with no lysine (K), and these kinases have been implicated as important modulators of salt homeostasis in the kidney. It is well known that high dietary sodium and low dietary potassium have been implicated in the et...
journal_title:Journal of human genetics
pub_type: 杂志文章,随机对照试验
doi:10.1038/jhg.2009.64
更新日期:2009-08-01 00:00:00
abstract::We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0004-8
更新日期:2003-01-01 00:00:00
abstract::Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0036-0
更新日期:2003-01-01 00:00:00
abstract::A sample of central Argentina (Córdoba) was genotyped for the first hypervariable region (HVS-I) plus a set of coding region mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) (N = 102) and compared with a data set of Y-chromosome short tandem repeats (Y-STRs; N = 100) previously genotyped in the same in...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0297-8
更新日期:2008-01-01 00:00:00