Abstract:
:Few studies have examined the association of SNPs in the adiponectin (ADIPOQ) and adiponectin receptor 1 and 2 (ADIPOR1, ADIPOR2) genes with the euglycemic clamp, i.e. the gold standard measure of insulin sensitivity. The association of comprehensive tag SNPs in these genes with insulin sensitivity was examined in a cohort of adolescents and their parents. Probands and siblings (n=441, mean age=17.9 years) were recruited along with their parents (n=262, mean age=47.9 years). Typed SNPs included 21 SNPs in ADIPOQ, 7 SNPs in ADIPOR1, and 13 SNPs in ADIPOR2. Mixed model linear regression was used to test the association of SNPs with euglycemic-clamp derived insulin sensitivity. All analyses were stratified by race. After corrections to account for multiple testing and the linkage disequilibrium structure of the genes, one SNP in the ADIPOQ gene (rs822393) was significantly associated with insulin sensitivity in white subjects. In whites, six SNPs in ADIPOQ, one SNP in ADIPOR1 and one SNP in ADIPOR2 were associated with insulin sensitivity at the P<0.05 level. In African Americans, two SNPs in ADIPOR1 were associated with insulin sensitivity at the P<0.05 level. These results suggest that a variant in the ADIPOQ gene influences levels of insulin sensitivity and age may modify the effects of this variant. There are several other variants in ADIPOQ, ADIPOR1, and ADIPOR2 that may influence insulin sensitivity and these variants should be further investigated in other populations.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Rasmussen-Torvik LJ,Pankow JS,Jacobs DR Jr,Steinberger J,Moran A,Sinaiko ARdoi
10.1007/s00439-008-0595-4subject
Has Abstractpub_date
2009-02-01 00:00:00pages
21-8issue
1eissn
0340-6717issn
1432-1203journal_volume
125pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The pediatric eye-tumor retinoblastoma is widely held as a paradigm of human cancer genetics and has been a model system for both the two-hit hypothesis of dominantly inherited cancer as well as for the concept of tumor-specific loss of constitutional heterozygosity to achieve expression of the tumorigenic phenotype. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050551
更新日期:1997-10-01 00:00:00
abstract::We studied the frequency of an SstI polymorphism in 70 patients with chronic B-cell leukaemia (CLL) and 100 normal controls. There was a highly significant difference in the distribution of the three genotypes between the CLL patients and the normal controls (chi 2 = 13.46, 2 df, P < 0.001). The C2 allele was found mo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217361
更新日期:1993-05-01 00:00:00
abstract::This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods. Two abnormal karyotypes were found: ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295457
更新日期:1981-01-01 00:00:00
abstract::A highly polymorphic CA repeat was identified in a cosmid containing the 5' end of the NF2 tumour suppressor gene. This marker has proved useful in presymptomatic diagnosis in affected families. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209494
更新日期:1995-06-01 00:00:00
abstract::The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00215678
更新日期:1992-02-01 00:00:00
abstract::We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00212039
更新日期:1994-03-01 00:00:00
abstract::A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217782
更新日期:1993-06-01 00:00:00
abstract::The gene for human interleukin 7 (IL7) maps to chromosome 8 by Southern analysis of a somatic cell hybrid panel and to 8q12-q13 by in situ hybridization. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274000
更新日期:1989-07-01 00:00:00
abstract::A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270570
更新日期:1984-01-01 00:00:00
abstract::The Tai-Kadai (TK) language family is thought to have originated in southern China and spread to Thailand and Laos, but it is not clear if TK languages spread by demic diffusion (i.e., a migration of people from southern China) or by cultural diffusion, with native Austroasiatic (AA) speakers switching to TK languages...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1742-y
更新日期:2017-01-01 00:00:00
abstract::Thirty-nine recombinants isolated from a Y chromosome-specific library were deletion mapped. Seven deletion intervals were defined by hybridization of probes to DNA of eight individuals with aberrant Y chromosomes. Extreme cytogenetic limits of the deletion intervals were determined by in situ hybridization of one pro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00193197
更新日期:1990-07-01 00:00:00
abstract::As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1335-y
更新日期:2013-11-01 00:00:00
abstract::To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050511
更新日期:1997-09-01 00:00:00
abstract::DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273844
更新日期:1987-01-01 00:00:00
abstract::Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194217
更新日期:1990-10-01 00:00:00
abstract::Leprosy is caused by infection with Mycobacterium leprae and is classified clinically into paucibacillary (PB) or multibacillary (MB) subtypes based on the number of skin lesions and the bacillary index detected in skin smears. We previously identified a major PB susceptibility locus on chromosome region 10p13 in Viet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1430-8
更新日期:2014-07-01 00:00:00
abstract::The most common form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene that is carried on the X-chromosome and give rise to the X-linked form of the disease. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, the catalytic core of the superoxide-generating enz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100551
更新日期:2001-08-01 00:00:00
abstract::In our studies apolipoprotein E4 (APOE4) is associated with both early- and late-onset Alzheimer's disease. Alzheimer's patients from West Texas were screened for the APOE4 allele, which was found at frequencies of 0.43 and 0.59 in familial late- and early-onset cases. Sporadic cases had lower frequencies, but they st...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197418
更新日期:1995-11-01 00:00:00
abstract::The sex of a conceptus at the early embryonic state was diagnosed in 1000 induced abortions. Specimens were obtained from women who terminated their pregnancies within 12 menstrual weeks on socio-economic indications. By making use of the triple checking procedures, such as the karyotypic analysis of Giemsa-stained sl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00446275
更新日期:1977-05-10 00:00:00
abstract::The use of two genomic EcoRI fragments as probes is discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291180
更新日期:1989-06-01 00:00:00
abstract::Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium gre...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274761
更新日期:1983-01-01 00:00:00
abstract::The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050359
更新日期:1997-03-01 00:00:00
abstract::The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the relative selective progressive death of motor neurons. These diseases range from slowly progressive forms including hereditary motor neuropathy (HMN), to the rapidly progressive disorder amyotrophic lateral sclerosis (ALS)...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0348-9
更新日期:2007-06-01 00:00:00
abstract::Many studies of quantitative and disease traits in human genetics rely upon self-reported measures. Such measures are based on questionnaires or interviews and are often cheaper and more readily available than alternatives. However, the precision and potential bias cannot usually be assessed. Here we report a detailed...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0240-z
更新日期:2006-11-01 00:00:00
abstract::Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282541
更新日期:1986-11-01 00:00:00
abstract::Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00388462
更新日期:1985-01-01 00:00:00
abstract::SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0883-7
更新日期:2010-12-01 00:00:00
abstract::A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217355
更新日期:1993-05-01 00:00:00
abstract::A polymorphic BamHI site was located in the coding region of the human T cell receptor delta gene TCRDV2. Two alleles defined by the absence or the presence of the BamHI site were detected by the polymerase chain reaction. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216155
更新日期:1993-08-01 00:00:00
abstract::Mutation accumulation has been proposed as a cause of senescence. During this process, age-related genetic and epigenetic mutations steadily accumulate. Cascading deleterious effects of mutations might initiate a steady "accumulation of deficits" in cells, despite the existence of repair mechanisms, leading to cellula...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02067-9
更新日期:2020-03-01 00:00:00