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Adebowale Adeyemo, M.D.

Associate Investigator, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch
Deputy Director, Center for Research on Genomics and Global Health

Dr. Adeyemo's research is on the genetic epidemiology of complex diseases within two broad areas: the genetic epidemiology of cardiometabolic disorders and the genetics of complex disease in childhood. 

Cardiometabolic disorders, in particular hypertension, obesity and diabetes, are non-communicable conditions of major public health and clinical significance. Dr. Adeyemo's research has focused on the genetic risk factors for these disorders in populations of African ancestry (African Americans and Sub Saharan Africans). Starting with linkage studies (in which he conducted the first genome wide linkage studies for obesity and for lipids in an African population), his studies have progressed through candidate gene studies to genome wide association studies and sequencing studies. Recently, he led the genome wide analysis for type 2 diabetes in the Africa America Diabetes Mellitus (AADM) Study based on genotypes generated from a conventional tag SNP array (the Affymetrix Axiom PanAFR array) and the Affymetrix Axiom Exome Array. Using a sample of ~1800 subjects, the study demonstrated that TCF7L2 showed the strongest association with type 2 diabetes. The study also showed transferability for 41 of 103 tested loci and demonstrated fine mapping of most of the replicated loci, thereby confirming the utility of studying African ancestry populations in such research initiatives. This dataset is currently being combined with another study for the first meta-analysis of type 2 diabetes in Africa.

Graph showing Haplotype block size

The genomics of complex diseases of childhood has been a research focus for Dr. Adeyemo, bringing together his training and experience in pediatrics, genetics and genetic epidemiology. In collaborative studies, he reported a novel locus (TNXB) for vesico-ureteric reflux (VUR) using a combination of linkage analysis, exome sequencing (WES) and functional studies in a 27-member pedigree (PMID 23620400).

More recently, novel candidate loci (HLADQA1 and PLCG2) for steroid-sensitive nephrotic syndrome (PMID 25349203) were reported in his collaborative studies. This is significant because this was the first time genetic risk variants have been reported for the common form of the nephrotic syndrome, which is the second leading cause of kidney disease in childhood and a major cause of end stage kidney disease requiring dialysis and kidney transplantation in children.

Other studies include: finding that ANLN mutations can cause focal segmental glomerulosclerosis (FSGS) - PMID 24676636; showing that subjects with Alport syndrome with the characteristic mutations in COL4A3/COL4A4 are often misdiagnosed as familial FSGS (PMID 25229338) and characterizing TNXB mutations in a large collection of families with VUR (PMID 26408188).

C43Y and F415 mutations


His research also includes genetics of orofacial clefts (i.e. cleft lip/palate). In collaborative studies, his research led to findings of novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome in Africa (PMID 24936515) and helped identify rare functional variants in non-syndromic cleft lip/palate (PMID 25081408). Current studies are using a GWAS of ~3000 orofacial clefts patients and controls to identify genetic risk factors for cleft lip/palate in Africa. More recently, his research has grown to include genetics of congenital heart defects. This collaborative study is currently enrolling children with CHD and their parents in Nigeria for genomic studies, including chromosomal arrays and whole exome sequencing. The project is also facilitating the collection of a rich clinical epidemiology dataset of congenital heart defects in an African population.

Posted: February 7, 2017