AMY1A
- Known as:
- AMY1A
- Catalog number:
- 001543A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- AMY1A
Related genes to: AMY1A
- Gene:
- AMY1A NIH gene
- Name:
- amylase alpha 1A (salivary)
- Previous symbol:
- AMY1
- Synonyms:
- -
- Chromosome:
- 1p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-01-18
Related products to: AMY1A
Related articles to: AMY1A
- Proteomic profiling offers thorough insights into protein structure and function, as well as it acts as an essential approach for analyzing molecular changes at the tissue level. However, because of the proteome's diversity and dynamic nature, biomarker discovery remains challenging. By combining proteomics with bioinformatics, the level of understanding in relation to molecular interactions and disease processes can be improved. Through an integrative approach, few limitations can be addressed, thereby promoting proteomic profiling for the discovery of new therapeutic targets and novel biomarkers for a variety of disorders. - Source: PubMed
Publication date: 2026/06/18
Rao Bounika EsvanthNair Anju MRamesh PreethiRamshankar VijayalakshmiGopinath SAbhinand P ANdkoraj ArtnoraMazur MartaWarnakulasuriya SamanCatakapatri Venugopal Divyambika - Hypertriglyceridemia arises from complex interactions between genetic and dietary factors. AMY1A/AMY2B copy number variation (CNV) and APOA5 rs651821 have been associated with triglyceride metabolism, and their effects may be modified by carbohydrate intake. This study investigated the combined influence of AMY1A/AMY2B CNV, APOA5 rs651821, and dietary carbohydrate intake on the odds of hypertriglyceridemia in middle-aged Korean adults. - Source: PubMed
Publication date: 2026/05/19
Kim MinyeongKo Seong-HeeKim SubinShin Dayeon - The salivary amylase gene AMY1 exhibits remarkable copy number variation linked to dietary shifts in human evolution. While global studies highlight its structural complexity and association with starch-rich diets, localized selection patterns remain underexplored. Here, we analyze AMY1 copy number in 3,723 individuals from 85 populations, revealing that Indigenous Peruvian Andean populations possess the highest AMY1 copy number globally. A genome-wide analysis shows significantly higher amylase copy numbers in Peruvian Andean genomes compared to closely related populations. Further, we identify positive selection (selection coefficient of 0.0124, log likelihood ratio of 11.1543) at the nucleotide level on a haplotype harboring at least five haploid AMY1 copies, with a Peruvian Andean-specific expansion dated to around 10,000 years ago, coinciding with potato domestication in the region. Using ultra-long-read sequencing, we demonstrate that previously described recombination-based mutational mechanisms drive the formation of high-copy AMY1 haplotypes observed in Andean population. Our study provides a framework for investigating structurally complex loci and their role in human dietary adaptation. - Source: PubMed
Publication date: 2026/05/05
Scheer KendraLandau Luane J BJorgensen KelseyKarageorgiou CharikleiaSiao LindseyAlkan CanMorales Rivera Angelis MOsborne ChristopherGarcia Obed APearson LaurelKiyamu MelisaRivera-Ch MaríaLeón-Velarde FabiolaLee Frank SBrutsaert TomBigham Abigail WGokcumen Omer - BACKGROUND: Metabolic syndrome (MetS) shows wide inter-individual variation in age at onset, yet the contribution of structural genomic variation is underexplored. We posited that copy number variation (CNV) burden—an aggregate of autosomal deletions and duplications—anticipates the timing of MetS. Our objective was to test whether higher CNV burden is associated with earlier onset of MetS and to nominate CNV regions enriched for metabolic biology, clarifying genetic architecture and guiding prevention. We leveraged a longitudinal Korean cohort to address this gap and provide evidence. METHODS: A total of 546 adults from the Korean Genome and Epidemiology Study (KoGES) cohort, with baseline genotyping and up to 20 years of follow-up, were analyzed. CNV burden was quantified as the total number of autosomal CNV segments identified after quality control. For each genomic segment, log2-transformed copy number ratios outside the diploid range were classified as CNV-present (value = 1) and those within the diploid interval were set to zero. Individual CNV burden was calculated by summing all non-zero segments and log-transformed to reduce skewness prior to analysis. MetS was defined according to NCEP ATP III and Korean waist circumference reference values. Onset age of MetS was calculated by adding the elapsed follow-up time (years) until the first diagnosis of MetS to each participant’s age at baseline. Participants who did not develop MetS were excluded from the onset-age calculation. We used multivariable logistic regression, multivariable linear regression, Kaplan–Meier with log-rank tests, and Cox proportional hazards models. RESULTS: A total of 403 CNVs showed nominal associations with MetS based on multivariable logistic regression adjusted for demographic, lifestyle, and clinical covariates (P < 0.05). The strongest signals were located in the amylase gene clusters (AMY1A/B/C, AMY2A/B) and KDM4C, although no CNV survived multiple-testing correction. Higher CNV burden was associated with earlier MetS onset in men (β = −21.42, P = 0.0249) and women (β = −14.09, P = 0.0451). In sex-stratified Cox proportional hazards models, CNV burden was consistently associated with an increased risk of incident MetS in men across all adjustment models, with hazard ratios ranging from 1.18 to 1.21. In women, the association showed a similar positive direction, with significance observed in partially adjusted models, although attenuated after full adjustment. CONCLUSIONS: Greater CNV burden consistently was associated with earlier MetS onset in a population-based Korean cohort, positioning structural variation as a contributor to cardiometabolic trajectories. The prominence of AMY1/AMY2 and KDM4C suggests convergent pathways linking starch metabolism and epigenetic regulation to disease timing. CNV burden may serve as a biomarker to prioritize early clinical surveillance and tailored prevention, warranting mechanistic and external validation studies. - Source: PubMed
Publication date: 2026/04/02
Ko Seong-HeeKim MinyeongShin Dayeon - The AMY1 gene, which encodes salivary amylase, exhibits copy number variation (CNV) that affects starch metabolism and may influence obesity risk. This study aimed to assess AMY1 CNV among selected participants of the 2018-2019 Expanded National Nutrition Survey (ENNS), using a validated digital PCR method. - Source: PubMed
Publication date: 2025/11/25
Zumaraga Mark PretzelRodriguez MariettaDuante CharmaineSerafico Michael