Search results for "SNP"

Single-nucleotide polymorphisms and FDG-PET in breast cancer. Clin Transl Imaging, 2013: 1 (Suppl 1):S6.

2013

Visa genoma asociācijas pētījumā identificēti četri riska polimorfismi un izveidots poligēnā riska modelis 2. tipa diabēta pacientiem Latvijas populā…

2020

Maģistra darbs veltīts 2. tipa cukura diabēta ģenētisko cēloņu izpētei Latvijas populācijā, kā arī automatizētas visa genoma asociācijas pētījumu darbplūsmas programmas izveidei. Darba ietvaros noskaidroti četri Latvijā bieži sastopami viena nukleotīda polimorfismi, kas būtiski asociēti ar 2. tipa cukura diabēta risku. Trīs no tiem atrodas gēnos LOC105370658, STK39 un BTNL2, kas ekspresējas un ir nozīmīgi aizkuņģa dziedzera insulīnu sekretējošo beta šūnu darbībā. Apvienojot 41 polimorfismu poligēnā riska modelī (PRS), izskaidroti 11% no slimības variācijas ar AUC 0.69. Cilvēkiem ar augstāko noteikto PRS ir 2.8 reizes palielināts 2. tipa diabēta risks, salīdzinot ar vidējo. Papildus tam, Lat…

Binding mode analysis of ABCA7 for the prediction of novel Alzheimer's disease therapeutics

2021

Graphical abstract

A melanocortin 1 receptor (MC1R) gene polymorphism is useful for authentication of Massese sheep dairy products

2011

Massese is an Italian sheep breed, with black or grey coat colour, mainly reared in the Tuscany and Emilia Romagna regions. Recently, the emerging interests in this breed have resulted in the production of Pecorino cheese obtained with only Massese milk. In order to be profitable, this marketing link between Massese breed and its products should be defended against fraudsters who could include milk of other sheep breeds or cow milk in Massese labelled productions. To identify the genetic factors affecting coat colour in sheep, we have recently analysed the melanocortin 1 receptor (MC1R) gene and identified several single nucleotide polymorphisms (SNPs). In this work, as a first step to set …

Congenital undifferentiated sarcoma associated to BCOR-CCNB3 gene fusion

2017

Small round cell sarcomas are aggressive bone and soft tissue tumors that predominantly affect children and young adults. A new group of sarcomas with a recurrent BCOR-CCNB3 gene fusion has been recently identified in previously unclassifiable small round cell sarcomas. BCOR-CCNB3 sarcomas share clinical and pathologic similarities with Ewing sarcoma, but show a stronger male predilection and less aggressiveness, as well as distinct gene expression profiling and pangenomic SNP array analyses. We report the unusual case of a congenital BCOR-CCNB3 retroperitoneal sarcoma in a female born at 34th gestational week, which was diagnosed in necropsy after 21hours of life. Immunohistochemical analy…

SHIP2: A “NEW” Insulin Pathway Target for Aging Research

2014

Strong evidence suggests that systemic inflammation and central adiposity contribute to and perpetuate metabolic syndrome. All of these alterations predispose individuals to type 2 diabetes mellitus (T2DM), cardiovascular disease, as well as Alzheimer's disease (AD), all characterized by chronic inflammatory status. On the other hand, extensive abnormalities in insulin and insulin-like growth factor I (IGF-I) and IGF-II signaling mechanisms in brains with AD have been demonstrated, suggesting that AD could be a third form of diabetes. The Src homology domain-containing inositol 5-phosphatase 2 (SHIP2) has an important role in the insulin pathway because its over-expression causes impairment…

Orosensory detection of bitter in fat-taster healthy and obese participants: Genetic polymorphism of CD36 and TAS2R38

2017

In Press, Corrected Proof — Note to users; International audience; Background & aimsWe assessed orosensory detection of a long-chain fatty acid, linoleic acid (LA), and a bitter taste marker, 6-n-propylthiouracil (PROP), and correlated lipid-taster subjects with PROP detection and polymorphism in genes encoding bitter and lipid taste receptors, respectively, TAS2R38 and CD36, in normal weight and obese subjects.DesignThe normal weight (n = 52, age = 35.3 ± 4.10 years, BMI = 23.22 ± 1.44 kg/m2) and obese (n = 52, age = 35.0 ± 5.43 years, BMI = 34.29 ± 5.31 kg/m2) participants were recruited to determine fat and bitter detection thresholds. The genomic DNA was used to determine single nucleot…

The A allele of cluster of differentiation 36 (CD36) SNP 1761667 associates with decreased lipid taste perception in obese Tunisian women.

2015

Recent studies have suggested that excessive intake of dietary fat is associated with obesity. Some obese subjects have been reported to exhibit high thresholds for the gustatory detection of lipids via lipid receptors, such as cluster of differentiation 36 (CD36). We studied lingual detection thresholds for emulsions containing oleic acid in obese Tunisian women (n203) using a three-alternative forced choice (3-AFC) method. Genotyping of theTNF-α(rs1800629),IL-6(rs1800795) andCD36(rs1761667) genes was performed to associate with lipid taste perception thresholds. TheCD36genotype distribution was as follows: GG (n42), AG (n102) and AA (n59). Women with theCD36GG genotype exhibited oral dete…

Lack of association of a functional catechol-O-methyltransferase gene polymorphism with risk of tobacco smoking: results from a multicenter case-cont…

2013

Background The catechol-O-methyltransferase (COMT) modulates dopaminergic neurotransmission in the prefrontal cortex as well as in the mesolimbic reward system. Since the reward system mediates addictive behavior, the COMT gene is a strong candidate gene regarding the pathophysiology of tobacco dependence and smoking behavior. Because of rather conflicting results in previous studies, the purpose of the present study was to test for association between a functional genetic variant in the COMT gene (single nucleotide polymorphism [SNP] rs4680) and tobacco smoking behavior. Methods In a population-based case-control multicenter study designed for tobacco addiction research, a total of 551 cur…

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…

2008

A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…