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AMY1 diploid copy number among end-stage renal disease patients

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Abstract

Purpose

The salivary amylase gene (AMY1) copy number variation (CNV) is increased as a human adaptation to starch-enriched nutritional patterns. The purpose of this study was to evaluate the relationship between AMY1 CNV, dietary starch consumption, and anthropometric indices among a known population with elevated cardiovascular risk, being end-stage renal disease (ESRD) patients.

Methods

A total of 43 ESRD patients were recruited based on the following inclusion criteria: being (1) adults, (2) on hemodialysis for more than 3 months, (3) able to communicate effectively, and (4) willing to participate. Anthropometric measurements were performed, dietary intake was recorded via food-frequency questionnaires, and AMY1 CNV was quantified in blood samples DNA via real-time PCR.

Results

Median AMY1 CNV was 4.0 (2.0–17.0). A total of 21 patients had an even, and 22 had an odd AMY1 copy number (CN). Independent samples t tests revealed that AMY1-odd diploid CN is associated with increased body weight, waist and hip circumferences, and fat mass compared to the respective even diploid CN carrier group. No differences were observed for BMI or nutritional intake. Multiple regression analysis revealed that AMY1-odd diploid CN was positively associated with increased hip circumference (ß = 7.87, 95% CI = 0.34 to 15.39) and absolute fat mass (ß = 6.66, 95% CI = 0.98 to 12.34); however, after applying the Bonferroni correction for multiplicity, all regression analyses lost their significance.

Conclusions

AMY1-odd diploid CN appears to be associated with selected adiposity variables among hemodialysis patients. However, more research is needed to verify this finding in this population with known increased cardiovascular risk.

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Acknowledgments

The authors wish to express their gratitude to all participants.

Author contributions

AGM and KKG designed the study, conceived the paper, initiated the collaborative project, and created the databases for the analyses. AGM, KKG, and KS collected the data. KKG performed the assays. AGM, KKG, and KS additionally analyzed the data. KG performed the statistical analyses. MGG, KG, and KKG wrote the manuscript. MGG, KG, AGM, KKG, and DPB corrected subsequent versions of the manuscript. MGG, KG, and MA performed a relevant literature search. AGM secured funding for the research. AGM and DPB supervised all procedures; provided intellectual input to the analysis plan, drafting, and revisions of the paper; and are considered guarantors of the manuscript. All authors reviewed the manuscript and approved the final version for submission.

Funding

This research was funded by the Research Committee of the Technological Educational Institute of Crete, under the 1st Internal Research Support Program, within the frame of the project titled “Prevalence of Protein-Energy Wasting in End-Stage Renal Disease (ESRD) patients and detection of determinant factors.”

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Correspondence to Maria G. Grammatikopoulou.

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Funding sources had no role in the design and conduct of the study; in the collection, management, analysis, and interpretation of the data; or in the preparation, review, and approval of the manuscript.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the University Hospital of Heraklion Research Committee and the Research Committee of the Hellenic Mediterranean University and with the 1964 Declaration of Helsinki and its later amendments, or comparable ethical standards.

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Maria G. Grammatikopoulou and Konstantinos Gkiouras are sharing first author position.

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Grammatikopoulou, M.G., Gkiouras, K., Markaki, A.G. et al. AMY1 diploid copy number among end-stage renal disease patients. Hormones 19, 369–376 (2020). https://doi.org/10.1007/s42000-020-00199-6

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