Differences in AMY1 Gene Copy Numbers Derived from Blood, Buccal Cells and Saliva Using Quantitative and Droplet Digital PCR Methods: Flagging the Pitfall

Ooi, Delicia Shu Qin; Tan, Verena M. H.; Ong, Siong Gim; Chan, Yiong Huak; Heng, Chew-Kiat; Lee, Yung Seng

doi:10.1371/journal.pone.0170767

Cited by 14 publications

(14 citation statements)

References 27 publications

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“…Nevertheless, several studies using droplet digital PCR (ddPCR) have reported similar results to our study, whereby AMY1 was associated with BMI [16] and fat mass [16]. Moreover, the results of both ddPCR and qPCR methods were shown to be equivalent when performed on blood samples [8,28]. Hence, we expect that any variations in sensitivity in the present study would be minimal, since qPCR was performed on PBMC samples.…”

Section: Discussionsupporting

confidence: 83%

Increased Inflammation and Cardiometabolic Risk in Individuals with Low AMY1 Copy Numbers

Marquina

Mousa

Belski

et al. 2019

JCM

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Lower copy number variations (CNVs) in the salivary amylase gene (AMY1) have been associated with obesity and insulin resistance; however, the relationship between AMY1 and cardiometabolic risk has not been fully elucidated. Using gold-standard measures, we aimed to examine whether AMY1 CNVs are associated with cardiometabolic risk factors in an overweight or obese, otherwise healthy population. Fifty-seven adults (58% male) aged 31.17 ± 8.44 years with a body mass index (BMI) ≥25 kg/m2 were included in the study. We measured AMY1 CNVs (qPCR); anthropometry (BMI; body composition by dual-energy X-ray absorptiometry); cardiovascular parameters (blood pressure, serum lipids by ELISA); insulin sensitivity (hyperinsulinaemic–euglycaemic clamp), insulin secretion (intravenous glucose tolerance test), and serum inflammation markers (multiplex assays). Based on previous studies and median values, participants were divided into low (≤4) and high (>4) AMY1 CNV groups. Low AMY1 carriers (n = 29) had a higher fat mass (40.76 ± 12.11 versus 33.33 ± 8.50 kg, p = 0.009) and LDL-cholesterol (3.27 ± 0.80 versus 2.87 ± 0.69 mmol/L, p = 0.038), and higher serum levels of interleukin [IL]-6, IL-1β, tumour necrosis factor-alpha and monocyte chemoattractant protein-1 (MCP-1) (all p < 0.05) compared with high AMY1 carriers (n = 28), but there were no differences in glycaemic measures, including insulin sensitivity or secretion (all p > 0.1). Except for MCP-1, the results remained significant in multivariable models adjusted for age, sex, and fat mass (all p < 0.05). Our findings suggest that low AMY1 CNVs are associated with increased cardiovascular disease risk and inflammation, but not glucose metabolism, in overweight or obese adults.

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Section: Discussionsupporting

confidence: 83%

Increased Inflammation and Cardiometabolic Risk in Individuals with Low AMY1 Copy Numbers

Marquina

Mousa

Belski

et al. 2019

JCM

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“…Several studies have investigated the relationship between AMY1 gene CN and predisposition to metabolic disorders, including obesity, T2D and insulin resistance, in both children and adults. However, contradicting results were reported 7,[12][13][14][15]18,19,[21][22][23][24][25][32][33][34] .The reported discrepancies remain unexplained, and possible reasons include the different techniques used to estimate the AMY1 gene CN 35 as well as the different ethnicities 21,36 www.nature.com/scientificreports/ and age 37 of the populations studied. The distribution of AMY1 gene CN in our study sample (2-20 copies) is comparable to what was reported previously across modern human populations 38 .…”

Section: Discussionmentioning

confidence: 90%

High plasma salivary α-amylase, but not high AMY1 copy number, associated with low obesity rate in Qatari adults: cross-sectional study

Al-Akl

Thompson

Arredouani

2020

Sci Rep

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The relationship between salivary α-amylase activity (psAAa) or AMY1 copy number and the risk of obesity remains controversial. We aimed to assess this relationship in a cohort from Qatar, where obesity affects 43% of adults. The relationship was investigated cross-sectionally in 923 Qatari adults from the Qatar biobank cohort. AMY1 CN was estimated form whole genome sequencing data. The associations with obesity prevalence were assessed by linear and logistic regressions. We found no difference in AMY1 CN between obese and normal-weight individuals. However, the psAAa was significantly lower in obese individuals. Significant inverse correlations were found between adiposity markers and psAAa in both sexes, but were marginally stronger in men. A significant effect of high psAAa, but not AMY1 CN, on reduced obesity rates was identified in men (OR per psAAa unit 0.957 [95% CI 0.937–0.977], p < 0.001, with psAAa ranging between 5 to 66 U/L). A significantly higher prevalence of obesity was observed in the lowest quartile of psAAa in men (75% (Q1) vs. 36% (Q4), p < 0.001) and women (74% (Q1) vs 56% (Q4), p = 0.009). Our findings suggest that high psAAa, but not AMY1 CN, has a potential positive benefit against obesity in the Qatari population.

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“…We calculated areas under the blood glucose based on the trapezoid rule. AMY1 expression was assessed by Droplet Digital PCR, which is preferred for its precise measurement [5,17]. Briefly, TaqMan Copy Number Assays for AMY1A (AMY1A:Hs07226362_cn) and restriction enzyme DraI (Anza 77 DraI; both from Thermo Fisher Scientific) were used.…”

Section: Measurementsmentioning

confidence: 99%

“…However, the results of these studies are conflicting, because some studies have shown no association of AMY1 CNV with obesity and impaired glucose metabolism [11][12][13][14][15][16]. These conflicting results may be due to the heterogeneity in patient samples in terms of racial and genetic background, various complications and acquired physical conditions, and the use of different study methods particularly for the assessment of AMY1 CNV [17].…”

Section: Introductionmentioning

confidence: 99%

Copy Number Variation of the Salivary Amylase Gene and Glucose Metabolism in Healthy Young Japanese Women

et al. 2020

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Background: Many studies have shown that low copy number variation (CNV) of the salivary amylase gene (AMY1) and low serum amylase concentration are associated with impaired glucose metabolism and obesity. We aimed to clarify the conflicting results of previous studies by examining AMY1 expression and metabolic indices in a homogenous group of healthy participants.Methods: Sixty healthy non-obese young Japanese women aged 20 -39 years were examined for AMY1 CNV, salivary amylase, body mass index (BMI) and serum parameters including glycated hemoglobin (HbA1c), ketones, and total, salivary and pancreatic amylase. Respiratory quotient at rest and changes in blood glucose after starch loading were also examined.Results: AMY1 CNV (range, 4 -14) and the level of serum salivary amylase were correlated inversely with HbA1c (r = -0.36, P = 0.003 and r = -0.30, P = 0.02, respectively), whereas the percentage of serum salivary amylase in total serum amylase was positively correlated with blood glucose at 30 and 45 min after starch loading (r = 0.38, P = 0.004 and r = 0.27, P = 0.04, respectively). The level of serum total amylase, but not AMY1 CNV, was correlated inversely with BMI (r = -0.29, P = 0.02). Logistic regression analysis showed that low AMY1 CNV (4 -7) was significantly associated with an HbA1c of ≥ 5.4% (34 mmol/mol) even after adjustment for age, BMI and energy consumption, compared with high AMY1 CNV (8 -14).Conclusions: Although a higher percentage of serum salivary amylase was associated with higher levels of blood glucose at the early stage after starch loading, low AMY1 CNV was associated with chronic unfavorable glucose metabolism in healthy non-obese young women in Japan.

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Differences in AMY1 Gene Copy Numbers Derived from Blood, Buccal Cells and Saliva Using Quantitative and Droplet Digital PCR Methods: Flagging the Pitfall

Cited by 14 publications

References 27 publications

Increased Inflammation and Cardiometabolic Risk in Individuals with Low AMY1 Copy Numbers

Increased Inflammation and Cardiometabolic Risk in Individuals with Low AMY1 Copy Numbers

High plasma salivary α-amylase, but not high AMY1 copy number, associated with low obesity rate in Qatari adults: cross-sectional study

Copy Number Variation of the Salivary Amylase Gene and Glucose Metabolism in Healthy Young Japanese Women

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