Abstract:
:Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hispanic children. Subjects were 1,030 Hispanic children in the Viva La Familia Study. Phenotypes included body size, body composition, blood pressure, fasting glucose, insulin, lipids, and liver enzymes. Birth weights were obtained from Texas birth certificates. Quantitative genetic analyses were conducted using SOLAR software. Birth weight was highly heritable, as were all other phenotypes. Phenotypically, birth weight was positively correlated to childhood body size parameters. Decomposition of these phenotypic correlations into genetic and environmental components revealed significant genetic correlations, ranging from 0.30 to 0.59. Negative genetic correlations were seen between birth weight and lipids. The genome scan of birth weight mapped to a region near marker D10S537 (LOD = 2.6). The bivariate genome-wide scan of birth weight and childhood weight or total cholesterol, improved the LOD score to 3.09 and 2.85, respectively. Chromosome 10q22 harbors genes influencing both birth weight and childhood body size and cardiovascular disease risk in Hispanic children.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Cai G,Cole SA,Haack K,Butte NF,Comuzzie AGdoi
10.1007/s00439-007-0366-7subject
Has Abstractpub_date
2007-07-01 00:00:00pages
737-44issue
6eissn
0340-6717issn
1432-1203journal_volume
121pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::5'-Bromodeoxyuridine (BrdU) present in the course of late S and G2 phases of the cell cycle in PHA-stimulated human lymphocyte cultures causes the despiralization and elongation of some chromosome regions, including short arms of acrocentric chromosomes. BrdU present at a concentration of 250 microM during the last 10...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286640
更新日期:1983-01-01 00:00:00
abstract::The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and Wilson disease (WND), respectively. A comparison of the two proteins shows extensive conservation in the signature domains, with amino acid identities outside of the co...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1045-y
更新日期:2004-01-01 00:00:00
abstract::Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291917
更新日期:1979-01-25 00:00:00
abstract::Rearranged human chromosomes carrying segments of chromosome 11 were separated from the normal chromosome 11 by high-resolution chromosome sorting. Sorted chromosomes were tested with parathyroid hormone, beta-globin, insulin, and LDH-A gene-specific probes to determine the genes carried by each chromosome segment. Ba...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291648
更新日期:1985-01-01 00:00:00
abstract::High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the wor...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1773-z
更新日期:2017-05-01 00:00:00
abstract::The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4; CD 152) is a negative regulator of T-lymphocyte activation. Particular genotypes of the locus encoding the CTLA-4 glycoprotein have been associated with susceptibility to various autoimmune diseases. To determine their role in susceptibility to systemic lupus er...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0807-2
更新日期:2002-10-01 00:00:00
abstract::A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270563
更新日期:1984-01-01 00:00:00
abstract::Gene frequency data of ten protein and enzyme loci in seven populations of India were collected from the literature. The gene differentiation among seven populations relative to total population was only 0.6%, indicating that the genic variation between populations was small compared to that within them. Using 29 comm...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00280836
更新日期:1977-12-29 00:00:00
abstract::The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050917
更新日期:1999-01-01 00:00:00
abstract::Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1885-0
更新日期:2018-04-01 00:00:00
abstract::Peripheral blood cultures of five healthy chromosomally normal adults were used to study the lateral orientation of mitotic chromatids in satellite associations. Chromosomes were prepared after bromodeoxyuridine substitution for two S phases and the fluorescence-plus-Giemsa (FPG) technique. Conventionally stained prep...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291326
更新日期:1982-01-01 00:00:00
abstract::Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid -16 to amino acid 183 of fXII protein was used ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273661
更新日期:1988-12-01 00:00:00
abstract::X chromosome inactivation results in dosage equivalency for X-linked gene expression between males and females. However, some X-linked genes show variable X inactivation, being expressed from the inactive X in some females but subject to inactivation in other women. The human tissue inhibitor of metalloproteinases-1 (...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0676-8
更新日期:2002-03-01 00:00:00
abstract::A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278889
更新日期:1976-10-28 00:00:00
abstract::The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050264
更新日期:1996-11-01 00:00:00
abstract::Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-01976-z
更新日期:2019-05-01 00:00:00
abstract::Oxidative damage caused by reactive oxygen species (ROS) and other free radicals is involved in a number of pathological conditions including cancer. In a population-based case-control study of non-Hodgkin lymphoma (NHL) (n = 518 cases, 597 controls) among women in Connecticut, we analyzed one or more single nucleotid...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0288-9
更新日期:2007-04-01 00:00:00
abstract::Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an autosomal recessive form of HSP was mapped to 16q24.3, and subsequently the defective gene associated to HSP was identified and designated SPG7. The SPG7 gene product was predicted to encode a...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s004390050985
更新日期:1999-06-01 00:00:00
abstract::Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00418400
更新日期:1984-01-01 00:00:00
abstract::The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210677
更新日期:1989-12-01 00:00:00
abstract::The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA methylation. Dysregulation of these genes causes a range of disorders affecting pre- and post-natal growth and neurological function. We investigated a cohort o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0205-2
更新日期:2006-09-01 00:00:00
abstract::Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1039-9
更新日期:2004-01-01 00:00:00
abstract::The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285390
更新日期:1983-01-01 00:00:00
abstract::X-chromosome inactivation and the size of the CGG repeat number are assumed to play a role in the clinical, physical, and behavioral phenotype of female carriers of a mutated FMR1 allele. In view of the tight relationship between replication timing and the expression of a given DNA sequence, we have examined the repli...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900081
更新日期:1999-07-01 00:00:00
abstract::Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271160
更新日期:1981-01-01 00:00:00
abstract::A correlation between the amount of rDNA and the frequency of participation in satellite associations is observed in a double-satellited human acrocentric chromosome. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270407
更新日期:1976-01-28 00:00:00
abstract::Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0776-5
更新日期:2002-08-01 00:00:00
abstract::Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1615-9
更新日期:2016-01-01 00:00:00
abstract::The human gene locus c-MEL was identified following transfection of genomic DNA from the human melanoma cell line NK14; it has previously been assigned to chromosome 19 (p13.2-q13.2) by analysis of somatic cell hybrids. We have further refined the position of this gene to the proximal region of 19p (cen-p13.2), using ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283697
更新日期:1989-03-01 00:00:00
abstract::A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283630
更新日期:1987-07-01 00:00:00