| Autor: |
Freedman, Barry I., Pajewski, Nicholas M., Pankow, Jim, Rice, Treva K., Arnett, Donna K., Broeckel, Uli, North, Kari E., Franceschini, Nora, Irvin, Marguerite R., Tiwari, Hemant K., Wineinger, Nathan E., Kabagambe, Edmond K., Wilk, Jemma B., Gu, Charles C. |
| Jazyk: |
angličtina |
| Předmět: |
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| Popis: |
African Americans have been understudied in genome wide association studies of diabetes and related traits. In the current study, we examined the joint association of single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) with fasting insulin and an index of insulin resistance (HOMA-IR) in the HyperGEN study, a family based study with proband ascertainment for hypertension. This analysis is restricted to 1,040 African Americans without diabetes. We generated allele specific CNV genotypes at 872,243 autosomal loci using Birdsuite, a freely available multi-stage program. Joint tests of association for SNPs and CNVs were performed using linear mixed models adjusting for covariates and familial relationships. Our results highlight SNPs associated with fasting insulin and HOMA-IR (rs6576507 and rs8026527, 3.7*10−7≤P≤1.1*10−5) near ATPase, class V, type 10A (ATP10A), and the L Type voltage dependent calcium channel (CACNA1D, rs1401492, P≤5.2*10−6). ATP10A belongs to a family of aminophospholipid-transporting ATPases and has been associated with type 2 diabetes in mice. CACNA1D has been linked to pancreatic beta cell generation in mice. The two most significant copy variable markers (rs10277702 and rs361367; P |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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