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.

中文翻译：

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终末期肾脏疾病患者的AMY1二倍体拷贝数。

目的

唾液淀粉酶基因（AMY1）的拷贝数变异（CNV）随着人类对富含淀粉的营养模式的适应而增加。这项研究的目的是评估患有终末期肾病（ESRD）的心血管风险升高的已知人群中AMY1 CNV，膳食淀粉消耗量和人体测量指标之间的关系。

方法

根据以下入选标准，共招募了43名ESRD患者：（1）成人，（2）接受血液透析超过3个月，（3）能够有效沟通，（4）愿意参加。进行人体测量，通过食物频率问卷记录饮食摄入量，并通过实时PCR对血液样本DNA中的AMY1 CNV进行定量。

结果

AMY1 CNV中位数为4.0（2.0-17.0）。共有21例患者为偶数，22例患者的AMY1拷贝数（CN）为奇数。独立样本t测试显示，与各自的偶数二倍体CN载体组相比，AMY1-奇数二倍体CN与体重，腰围和臀围以及脂肪量增加有关。BMI或营养摄入量未见差异。多元回归分析显示，AMY1-奇数二倍体CN与臀围增加（ß  = 7.87，95％CI = 0.34至15.39）和绝对脂肪量（ß = 6.66，95％CI = 0.98至12.34）；但是，将Bonferroni校正应用于多重性后，所有回归分析都失去了意义。

结论

AMY1-奇数二倍体CN似乎与血液透析患者中​​选择的肥胖相关。但是，需要更多的研究来证实这一已知心血管疾病风险增加的人群的发现。