Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels-Reference-Cited by-同舟云学术

Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

Published:2020-08 Issue:4 Volume:13 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Wang Zhe¹^ORCID,Chen Han¹^ORCID,Bartz Traci M.²,Bielak Lawrence F.³,Chasman Daniel I.⁴^ORCID,Feitosa Mary F.⁵,Franceschini Nora⁶^ORCID,Guo Xiuqing⁷^ORCID,Lim Elise⁸^ORCID,Noordam Raymond⁹^ORCID,Richard Melissa A.¹⁰^ORCID,Wang Heming¹¹¹²^ORCID,Cade Brian¹¹¹²^ORCID,Cupples L. Adrienne⁸¹³^ORCID,de Vries Paul S.¹,Giulanini Franco⁴,Lee Jiwon¹¹¹²^ORCID,Lemaitre Rozenn N.¹⁴^ORCID,Martin Lisa W.¹⁵^ORCID,Reiner Alex P.¹⁶^ORCID,Rich Stephen S.¹⁷^ORCID,Schreiner Pamela J.¹⁸^ORCID,Sidney Stephen¹⁹,Sitlani Colleen M.¹⁴^ORCID,Smith Jennifer A.³²⁰^ORCID,Willems van Dijk Ko²¹²²^ORCID,Yao Jie⁷^ORCID,Zhao Wei³^ORCID,Fornage Myriam¹¹⁰^ORCID,Kardia Sharon L.R.³,Kooperberg Charles¹^ORCID,Liu Ching-Ti¹^ORCID,Mook-Kanamori Dennis O.²³²⁴,Province Michael A.⁵,Psaty Bruce M.²⁵²⁶^ORCID,Redline Susan¹¹¹²,Ridker Paul M.¹¹¹²^ORCID,Rotter Jerome I.⁷^ORCID,Boerwinkle Eric¹²⁷,Morrison Alanna C.¹^ORCID,

Affiliation:

1. Department of Epidemiology, Human Genetics Center, Human Genetics and Environmental Sciences, School of Public Health (Z.W., H.C., P.S.d.V., M.F., E.B., A.C.M.), University of Texas Health Science Center at Houston, Houston, TX.

2. Cardiovascular Health Research Unit, Department of Biostatistics and Medicine (T.M.B.), University of Washington, Seattle, WA.

3. Department of Epidemiology, School of Public Health (L.F.B., J.A.S., W.Z., S.L.R.K.), University of Michigan, Ann Arbor, MI.

4. Division of Preventive Medicine (D.I.C., F.G.), Brigham and Women’s Hospital, Boston, MA.

5. Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, MO (M.F.F., M.A.P.).

6. Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill (N.F.).

7. Department of Pediatrics, Institute for Translational Genomics and Population Sciences, The Lundquist Institute at Harbor–UCLA Medical Center, Torrance, CA (X.G., J.Y., J.I.R.).

8. Biostatistics Department, Boston University School of Public Health, MA (E.L., L.A.C., C.-T.L.).

9. Section of Gerontology and Geriatrics, Department of Internal Medicine (R.N.), Leiden University Medical Center, the Netherlands.

10. Brown Foundation Institute of Molecular Medicine (M.A.R., M.F.), University of Texas Health Science Center at Houston, Houston, TX.

11. Division of Sleep and Circadian Disorders, Department of Medicine (H.W., B.C., J.L., S.R., P.M.R.), Brigham and Women’s Hospital, Boston, MA.

12. Harvard Medical School, Boston, MA (D.I.C., H.W., B.C., J.L., S.R., P.M.R.).

13. NHLBI Framingham Heart Study, MA (L.A.C.).

14. Cardiovascular Health Research Unit, Department of Medicine (R.N.L., C.M.S.), University of Washington, Seattle, WA.

15. George Washington University School of Medicine and Health Sciences, DC (L.W.M.).

16. Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA (A.P.R., C.K.).

17. Department of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville (S.S.R.).

18. Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis (P.J.S.).

19. Division of Research, Kaiser Permanente Northern California, Oakland (S.S.).

20. Institute for Social Research, Survey Research Center (J.A.S.), University of Michigan, Ann Arbor, MI.

21. Department of Human Genetics (K.W.v.D.), Leiden University Medical Center, the Netherlands.

22. Division of Endocrinology, Department of Internal Medicine (K.W.v.D.), Leiden University Medical Center, the Netherlands.

23. Department of Clinical Epidemiology (D.O.M.-K.), Leiden University Medical Center, the Netherlands.

24. Department of Public Health and Primary Care (D.O.M.-K.), Leiden University Medical Center, the Netherlands.

25. Cardiovascular Health Research Unit, Department of Medicine, Epidemiology and Health Services (B.M.P.), University of Washington, Seattle, WA.

26. Kaiser Permanente Washington Health Research Institute, Seattle, WA (B.M.P.).

27. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX (E.B.).

Abstract

Background: Alcohol intake influences plasma lipid levels, and such effects may be moderated by genetic variants. We aimed to characterize the role of aggregated rare and low-frequency protein-coding variants in gene by alcohol consumption interactions associated with fasting plasma lipid levels. Methods: In the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, fasting plasma triglycerides and high- and low-density lipoprotein cholesterol were measured in 34 153 individuals with European ancestry from 5 discovery studies and 32 277 individuals from 6 replication studies. Rare and low-frequency functional protein-coding variants (minor allele frequency, ≤5%) measured by an exome array were aggregated by genes and evaluated by a gene-environment interaction test and a joint test of genetic main and gene-environment interaction effects. Two dichotomous self-reported alcohol consumption variables, current drinker, defined as any recurrent drinking behavior, and regular drinker, defined as the subset of current drinkers who consume at least 2 drinks per week, were considered. Results: We discovered and replicated 21 gene-lipid associations at 13 known lipid loci through the joint test. Eight loci ( PCSK9 , LPA , LPL , LIPG , ANGPTL4 , APOB , APOC3 , and CD300LG ) remained significant after conditioning on the common index single-nucleotide polymorphism identified by previous genome-wide association studies, suggesting an independent role for rare and low-frequency variants at these loci. One significant gene-alcohol interaction on triglycerides in a novel locus was significantly discovered ( P =6.65×10 −6 for the interaction test) and replicated at nominal significance level ( P =0.013) in SMC5 . Conclusions: In conclusion, this study applied new gene-based statistical approaches and suggested that rare and low-frequency genetic variants interacted with alcohol consumption on lipid levels.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

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