scholarly journals A comprehensive map of single-base polymorphisms in the hypervariableLPAkringle IV type 2 copy number variation region

2018 ◽  
Vol 60 (1) ◽  
pp. 186-199 ◽  
Author(s):  
Stefan Coassin ◽  
Sebastian Schönherr ◽  
Hansi Weissensteiner ◽  
Gertraud Erhart ◽  
Lukas Forer ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Copy Number Variation Region ◽  
Single Base ◽  
Number Variation

scholarly journals Salivary AMY1 Copy Number Variation Modifies Age-Related Type 2 Diabetes Risk

2020 ◽  
Vol 66 (5) ◽  
pp. 718-726
Author(s):  
Yuwei Liu ◽  
Caren E Smith ◽  
Laurence D Parnell ◽  
Yu-Chi Lee ◽  
Ping An ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Copy Number Variation ◽  
Metabolic Pathway ◽  
Copy Number ◽  
Lipid Lowering ◽  
Pathway Enrichment Analysis ◽  
Copy Numbers ◽  
Number Variation ◽  
The Relationship

Abstract Background Copy number variation (CNV) in the salivary amylase gene (AMY1) modulates salivary α-amylase levels and is associated with postprandial glycemic traits. Whether AMY1-CNV plays a role in age-mediated change in insulin resistance (IR) is uncertain. Methods We measured AMY1-CNV using duplex quantitative real-time polymerase chain reaction in two studies, the Boston Puerto Rican Health Study (BPRHS, n = 749) and the Genetics of Lipid-Lowering Drug and Diet Network study (GOLDN, n = 980), and plasma metabolomic profiles in the BPRHS. We examined the interaction between AMY1-CNV and age by assessing the relationship between age with glycemic traits and type 2 diabetes (T2D) according to high or low copy numbers of the AMY1 gene. Furthermore, we investigated associations between metabolites and interacting effects of AMY1-CNV and age on T2D risk. Results We found positive associations of IR with age among subjects with low AMY1-copy-numbers in both studies. T2D was marginally correlated with age in participants with low AMY1-copy-numbers but not with high AMY1-copy-numbers in the BPRHS. Metabolic pathway enrichment analysis identified the pentose metabolic pathway based on metabolites that were associated with both IR and the interactions between AMY1-CNV and age. Moreover, in older participants, high AMY1-copy-numbers tended to be associated with lower levels of ribonic acid, erythronic acid, and arabinonic acid, all of which were positively associated with IR. Conclusions We found evidence supporting a role of AMY1-CNV in modifying the relationship between age and IR. Individuals with low AMY1-copy-numbers tend to have increased IR with advancing age.

scholarly journals Apolipoprotein(a) Kringle-IV Type 2 Copy Number Variation Is Associated with Venous Thromboembolism

PLoS ONE ◽  
2016 ◽  
Vol 11 (2) ◽  
pp. e0149427 ◽  
Author(s):  
Elena Sticchi ◽  
Alberto Magi ◽  
Pia R. Kamstrup ◽  
Rossella Marcucci ◽  
Domenico Prisco ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Copy Number Variation ◽  
Copy Number ◽  
Apolipoprotein A ◽  
Number Variation

scholarly journals Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus

BMC Genomics ◽  
2010 ◽  
Vol 11 (1) ◽  
pp. 426 ◽  
Author(s):  
Jae-Pil Jeon ◽  
Sung-Mi Shim ◽  
Hye-Young Nam ◽  
Gil-Mi Ryu ◽  
Eun-Jung Hong ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Copy Number Variation ◽  
Copy Number ◽  
Gene Locus ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Number Variation

Identification of copy number variation of CAPN10 in Thais with type 2 diabetes by multiplex PCR and denaturing high performance liquid chromatography (DHPLC)

Gene ◽  
2012 ◽  
Vol 506 (2) ◽  
pp. 383-386 ◽  
Author(s):  
Nattachet Plengvidhya ◽  
Kanjana Chanprasert ◽  
Watip Tangjittipokin ◽  
Wanna Thongnoppakhun ◽  
Pa-thai Yenchitsomanus
Keyword(s):  
Type 2 Diabetes ◽  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Copy Number Variation ◽  
Multiplex Pcr ◽  
Copy Number ◽  
High Performance ◽  
Number Variation

scholarly journals Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Silvia Di Maio ◽  
Rebecca Grüneis ◽  
Gertraud Streiter ◽  
Claudia Lamina ◽  
Manuel Maglione ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Nonsense Mutation ◽  
Copy Number ◽  
Copy Number Variation Region ◽  
Apolipoprotein A ◽  
Number Variation

scholarly journals Interaction Effect Between Copy Number Variation in Salivary Amylase Locus (AMY1) and Starch Intake on Glucose Homeostasis in the Malmö Diet and Cancer Cohort

2021 ◽  
Vol 7 ◽  
Author(s):  
Aida Koder Hamid ◽  
Johanna Andersson-Assarsson ◽  
Ulrika Ericson ◽  
Emily Sonestedt
Keyword(s):  
Type 2 Diabetes ◽  
Copy Number Variation ◽  
Glucose Homeostasis ◽  
Copy Number ◽  
Inverse Association ◽  
Salivary Amylase ◽  
Cross Sectional ◽  
Copy Numbers ◽  
Number Variation

Salivary amylase initiates the digestion of starch and it has been hypothesized that salivary amylase may play a role in the development of insulin resistance and type 2 diabetes. The aim was to examine the interaction between copy number variation in the salivary amylase gene AMY1 and starch intake. We studied 3,624 adults without diabetes or elevated blood glucose in the Malmö Diet Cancer cohort. We assessed the associations and interactions between starch intake, AMY1 copies and glucose homeostasis traits (i.e., fasting plasma glucose, insulin and HOMA-IR) and risk of type 2 diabetes over an average of 18 follow-up years. AMY1 copy number was not associated with glucose, insulin or HOMA-IR. We observed a significant interaction between starch intake and AMY1 copies on insulin and HOMA-IR after adjusting for potential confounders (p < 0.05). The inverse association between starch intake and insulin and HOMA-IR was stronger in the group with 10 or more copies (Ptrend < 0.001). In addition, we observed an inverse association between starch intake and type 2 diabetes in the group with 10 or more copies (ptrend = 0.003), but not in the other groups. This cross-sectional observational study suggests that AMY1 copy numbers might interact with starch intake on glucose homeostasis traits. Interventional studies are required to determine whether individuals with high AMY1 copy numbers may benefit from a high starch intake.

scholarly journals Copy Number Variation of the SHE Gene in Sheep and Its Association with Economic Traits

Animals ◽  
2019 ◽  
Vol 9 (8) ◽  
pp. 531 ◽  
Author(s):  
Rui Jiang ◽  
Jie Cheng ◽  
Xiu-Kai Cao ◽  
Yi-Lei Ma ◽  
Buren Chaogetu ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Milk Fat ◽  
Copy Number ◽  
Linear Models ◽  
Copy Number Variation Region ◽  
Copy Number Loss ◽  
Economic Traits ◽  
Fat Percentage ◽  
Association Analyses ◽  
Number Variation

Copy number variation (CNV) caused by gene rearrangement is an important part of genomic structural variation. We found that the copy number variation region of the Src Homology 2 Domain Containing E (SHE) gene correlates with a quantitative trait locus of sheep related to milk fat percentage and bone density. The aim of our study was to detect the copy number variation of the SHE gene in four sheep breeds and to conduct a correlation analysis with economic traits, hoping to provide some reference for sheep breeding. In this study, we examined 750 sheep from four Chinese breeds: Chaka sheep (CKS), Hu sheep (HS), Large Tail Han sheep (LTHS) and Small Tail Han sheep (STHS). We used qPCR to evaluate the copy number of the SHE gene, and then used general linear models to analyze the associations between CNV and economic traits. The results showed that there were more individuals with SHE copy number loss in CKS and HS than in STHS and LTHS individuals. Association analyses showed that gain and normal copy number types were correlated to body length, circumference of cannon bone, heart girth, chest width and high at the cross in CKS, HS and STHS (p < 0.05), but this association was not observed for LTHS. Chi-square values (χ2) found prominent differences in CNV distribution among the studied breeds. Overall, the CNV of the SHE gene may be an important consideration for sheep molecular breeding.

scholarly journals Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population

2018 ◽  
Vol 65 (5) ◽  
pp. 537-545 ◽  
Author(s):  
Yao Xu ◽  
Weilin Shi ◽  
Ruhui Song ◽  
Wenlin Long ◽  
Hui Guo ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Copy Number Variation ◽  
Copy Number ◽  
Chinese Population ◽  
Number Variation ◽  
Risk Locus ◽  
I Gene
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