Copy Number Variations Associated With Obesity-Related Traits in African Americans: A Joint Analysis Between GENOA and HyperGEN
OBESITY
Authors: Zhao, Wei; Wineinger, Nathan E.; Tiwari, Hemant K.; Mosley, Thomas H.; Broeckel, Ulrich; Arnett, Donna K.; Kardia, Sharon L. R.; Kabagambe, Edmond K.; Sun, Yan V.
Abstract
Obesity is a highly heritable trait and a growing public health problem. African Americans (AAs) are a genetically diverse, yet understudied population with a high prevalence of obesity (BMI >30 kg/m(2)). Recent studies based upon single-nucleotide polymorphisms (SNPs) have identified genetic markers associated with obesity. However, a large proportion of the heritability of obesity remains unexplained. Copy number variation (CNV) has been cited as a possible source of missing heritability in common diseases such as obesity. We conducted a CNV genome-wide association study of BMI in two African-American cohorts from Genetic Epidemiology Network of Arteriopathy (GENOA) and Hypertension Genetic Epidemiology Network (HyperGEN). We performed independent and identical association analyses in each study, then combined the results in a meta-analysis. We identified three CNVs associated with BMI, obesity, and other obesity-related traits after adjusting for multiple testing. These CNVs overlap the PARK2, GYPA, and SGCZ genes. Our results suggest that CNV may play a role in the etiology of obesity in AAs.
A study on the short tandem repeat systems HumCD4, HumTHO1 and HumFIBRA in population samples from Yemen and Egypt
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
Authors: Klintschar, M; Kozma, Z; Al Hammadi, N; Fatah, MA; Nohammer, C
Abstract
The short tandem repeat systems (STRs) HumCD4 (CD4), HumTH01 (TH01) and HumFIBRA (FGA) were amplified by the polymerase chain reaction (PCR) on blood samples from 100 unrelated Yemenians and 100 unrelated Egyptians. PCR products were separated on native horizontal discontinuous gel electrophoresis followed by silver staining. The distribution of observed phenotypes did not deviate from Hardy-Weinberg equilibrium. While significant differences between both Arab populations and an European population from Austria were found at all loci, differences between the Egyptian and the Yemenian samples were found only for CD4. In a number of verified Austrian families (TH01: 426 meioses, CD4: 275 meioses, FGA: 144 meioses) no mutations were found. The observation of a TH01 allele consisting of 4 repeats was confirmed by sequencing. Moreover we report the structure of a TH01 allele 6.3 observed in a Hungarian Caucasian population.
COA
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