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Cited by 4Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenetics and Physical Performance

Genome‐wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study

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Buchanan, Victoria L, Wang, Yujie, Blanco, Estela, Graff, Mariaelisa, Albala, Cecilia, Burrows, Raquel, Santos, José L, Angel, Bárbara +12 more·2021·Pediatric Obesity
DOI 10.1111/ijpo.12765PMC PMC8711702
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Abstract

Summary: Background: The genetic underpinnings of glycemic traits have been understudied in adolescent and Hispanic/Latino (H/L) populations in comparison to adults and populations of European ancestry. Objective: To identify genetic factors underlying glycemic traits in an adolescent H/L population. Methods: We conducted a genome‐wide association study (GWAS) of fasting glucose (FG) and fasting insulin (FI) in H/L adolescents from the Santiago Longitudinal Study. Results: We identified one novel variant positioned in the CSMD1 gene on chromosome 8 (rs77465890, effect allele frequency = 0.10) that was associated with FI (β = −0.299, SE = 0.054, p = 2.72×10−8) and was only slightly attenuated after adjusting for body mass index z‐scores (β = −0.252, SE = 0.047, p = 1.03×10−7). We demonstrated directionally consistent, but not statistically significant results in African and Hispanic adults of the Population Architecture Using Genomics and Epidemiology Consortium. We also identified secondary signals for two FG loci after conditioning on known variants, which demonstrate allelic heterogeneity in well‐known glucose loci. Conclusion: Our results exemplify the importance of including populations with diverse ancestral origin and adolescent participants in GWAS of glycemic traits to uncover novel risk loci and expand our understanding of disease aetiology.

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  • GBA3 is involved in glucose metabolism pathways and its genetic variation has been reported to be associated with fasting glucose and insulin levels.

    “GBA3 is involved in glucose metabolism pathways and its genetic variation has been reported to be associated with fasting glucose and insulin levels [35].”

    From Genome-wide analysis identifies novel loci influencing plasma apolipoprotein E concentration and Alzheimer’s disease risk (2023) · cites this paper as [35]

    The Discussion (page unavailable) says GBA3 is involved in galactose metabolism, not specifically glucose metabolism, and places it among genes containing variants with suggestive associations with the study’s glycemic traits. It does not establish that GBA3 variation is associated with both fasting glucose and fasting insulin; the Results (page unavailable) distinguish suggestive loci for the two traits without assigning both to GBA3. (LLM, conf=0.87)

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Authors
Buchanan, V. L., Wang, Y., Blanco, E., Graff, M., Albala, C., Burrows, R., Santos, J. L., Angel, B., Lozoff, B., Voruganti, V. S., Guo, X., Taylor, K. D., Chen, Y. I., Yao, J., Tan, J., Downie, C., Highland, H. M., Justice, A. E., Gahagan, S., & North, K. E.
Affiliations
  • University of North Carolina at Chapel Hill (US)
  • University of California San Diego (US)
  • Department of Public Health Nutrition, Institute of Nutrition and Food Technology University of Chile Santiago Chile
  • University of Chile (CL)
  • Pontificia Universidad Católica de Chile (CL)
  • University of Michigan (US)
  • University of California, Los Angeles (US)
Corresponding author
Buchanan, Victoria L
ORCID
Venue
Pediatric Obesity
Publisher
Wiley
Published
2020-12-30
Volume
16
Issue
7
Pages
e12765-e12765
ISSN
  • 2047-6302 (ISSN-L)
  • 2047-6310
DOI
10.1111/ijpo.12765
PMC
PMC8711702
OpenAlex
W3117189050
Cited by
4
References
51
Citations by year
2026: 1 · 2023: 3
FWCI
0.44
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Pediatric Obesity (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • Deep Blue (University of Michigan) (submittedVersion)
  • Universidad de Chile (submittedVersion)
Funders
  • American Diabetes Association (1‐19‐PDF‐045)
  • American Heart Association (15GRNT25880008)
  • National Cancer Institute (U01CA164973)
  • National Heart, Lung, and Blood Institute (HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN268201100046C, HHSN268201200008I, HHSN271201100004C, K99/R00HL130580, N01‐HC65233, N01‐HC65234, N01‐HC65235, N01‐HC65236, N01‐HC65237, R01HL088530, R01HL142825, T32 HL007055, T32 HL129982‐03)
  • National Human Genome Research Institute (U01HG007376, U01HG007397, U01HG007419)
  • National Institute of Child Health and Human Development (R01 HD33487)
  • National Institute on Minority Health and Health Disparities (U01HG007416)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
Keywords
fasting insulin, fasting blood glucose, glycemic traits, CSMD1, allelic heterogeneity, Latino adolescents, Chilean adolescents, novel genetic variants, body mass index, PGC-1, PPARγ
MeSH terms
Adolescent, Blood Glucose, Chile, Fasting, Gene Frequency, Humans, Insulin, Longitudinal Studies, Membrane Proteins, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Genome-Wide Association Study

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