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Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

TitleSequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Publication TypeJournal Article
Year of Publication2014
AuthorsLiu C-T, Young KL, Brody JA, Olden M, Wojczynski MK, Heard-Costa N, Li G, Morrison AC, Muzny D, Gibbs RA, Reid JG, Shao Y, Zhou Y, Boerwinkle E, Heiss G, Wagenknecht L, McKnight B, Borecki IB, Fox CS, North KE
Secondary AuthorsL Cupples A
JournalCirc Cardiovasc Genet
Volume7
Issue3
Pagination344-9
Date Published2014 Jun
ISSN1942-3268
KeywordsAdult, Aged, Aging, Body Mass Index, Cohort Studies, Female, Genetic Association Studies, Genetic Variation, Genome-Wide Association Study, Genomics, Heart Diseases, Humans, Male, Membrane Proteins, Middle Aged, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Young Adult
Abstract

BACKGROUND: Genome-wide association studies for body mass index (BMI) previously identified a locus near TMEM18. We conducted targeted sequencing of this region to investigate the role of common, low-frequency, and rare variants influencing BMI.

METHODS AND RESULTS: We sequenced TMEM18 and regions downstream of TMEM18 on chromosome 2 in 3976 individuals of European ancestry from 3 community-based cohorts (Atherosclerosis Risk in Communities, Cardiovascular Health Study, and Framingham Heart Study), including 200 adults selected for high BMI. We examined the association between BMI and variants identified in the region from nucleotide position 586 432 to 677 539 (hg18). Rare variants (minor allele frequency,

CONCLUSIONS: Targeted sequencing around TMEM18 identified 2 novel BMI variants with possible regulatory function.
DOI10.1161/CIRCGENETICS.13.000067
Alternate JournalCirc Cardiovasc Genet
PubMed ID24951660
PubMed Central IDPMC4135723
Grant ListHHSN268201100012C / HL / NHLBI NIH HHS / United States
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