Affiliation

• ¹Department of Biochemistry and Molecular Biology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA
• ²Department of Obstetrics and Gynecology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA
• ³Department of Internal Medicine, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA
• ⁴Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Canada
• ⁵Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA

Corresponding Author

William S. Garver,Department of Biochemistry and Molecular Biology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico,USA; Tel: 1-505-272-4790; Fax: 1-505-272-6587; E-Mail: wgarver@unm.edu

Citation

Garver, W.S. et al. Differential Association of Niemann-Pick C1 Gene Polymorphisms with Maternal Prepregnancy Overweight and Gestational Diabetes. (2015) J Diabetes Obes 2(1): 9- 15.

Copy rights

© 2015 Garver, W.S. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License.

Keywords

Abstract

  A genome-wide association study (GWAS) and subsequent replication studies in diverse ethnic groups indicate that common Niemann-Pick C1 gene (NPC1) polymorphisms are associated with morbid-adult obesity or diabetes independent of body weight. The objectives for this prospective cross-sectional study were to determine allele frequencies for NPC1 polymorphisms (644A > G, 1926C > G, 2572A > G, and 3797G > A) and association with metabolic disease phenotypes in an ethnically diverse New Mexican obstetric population. Allele frequencies for 1926C > G, 2572A > G, and 3797G > A were significantly different between race/ethnic groups (non-Hispanic white, Hispanic, and Native American). The results also indicated a significant pairwise linkage-disequilibrium between each of the four NPC1 polymorphisms in race/ethnic groups. Moreover, the derived and major allele for 1926C > G was associated (OR 2.11, 95% CI 1.10-3.96, P = 0.022) with increased risk for maternal prepregnancy overweight (BMI 25.0- 29.9kg/m²) while the ancestral and major allele for 2572A > G was associated (OR 4.68, 95% CI 1.23- 17.8, P = 0.024) with increased risk for gestational diabetes in non-Hispanic whites, but not Hispanics or Native Americans. In summary, this is the first transferability study to investigate common NPC1 polymorphisms in a multiethnic population and demonstrate a differential association with increased risk for maternal prepregnancy overweight and gestational diabetes.