TY  - JOUR
A1  - Enssle, Jörg
A1  - Weylandt, Karsten-Henrich
T1  - Secure and optimized detection of PNPLA3 rs738409 genotype by an improved PCR-restriction fragment length polymorphism method
JF  - BioTechniques : the international journal of life science methods
N2  - The PNPLA3 reference single-nucleotide polymorphism rs738409 has been identified as a predisposing factor for nonalcoholic fatty liver disease. A simple method based on PCR and restriction fragment length polymorphism (RFLP) analysis had been published to detect the nonpathogenic allele PNPLA3 rs738409 variant. The presence of the pathogenic variant was deduced by the indigestibility of the corresponding PCR product with BtsCI recognizing the nonpathogenic allele. However, one cannot exclude that an enzymatic reaction does not occur for other, more trivial, reasons. For safe and secure detection of the pathogenic PNPLA3 rs738409, we have further developed the PCR-restriction fragment length polymorphism method by adding a second restriction enzyme digest, clearly identifying the correct PNPLA3 alleles and in particular the pathogenic variant. <br /> METHOD SUMMARY <br /> The method presented here represents an improved genetic diagnosis of the PNPLA3 rs738409 alleles based on conventional and inexpensive molecular biological methods. We used methodology based on PCR and restriction fragment length polymorphisms and clearly identified both described alleles by the use of two restriction enzymes. Digestion of individuals' specific PNPLA3 PCR fragments with both enzymes in independent reactions clearly showed the PNPLA3 rs738409 genotype.
KW  - n-3 polyunsaturated fatty acid therapies
KW  - nonalcoholic fatty liver
KW  - disease
KW  - PCR– RFLP
KW  - PNPLA3
KW  - rs738409
Y1  - 2021
U6  - https://doi.org/10.2144/btn-2020-0163
SN  - 0736-6205
SN  - 1940-9818
VL  - 70
IS  - 6
SP  - 345
EP  - 349
PB  - Future Science Ltd.
CY  - London
ER  - 
TY  - JOUR
A1  - Wang, Chaoxuan
A1  - Enssle, Jörg
A1  - Pietzner, Anne
A1  - Schmöcker, Christoph
A1  - Weiland, Linda
A1  - Ritter, Oliver
A1  - Jaensch, Monique
A1  - Elbelt, Ulf
A1  - Pagonas, Nikolaos
A1  - Weylandt, Karsten-Henrich
T1  - Essential polyunsaturated fatty acids in blood from patients with and without catheter-proven coronary artery disease
JF  - International journal of molecular sciences
N2  - Coronary artery disease (CAD) is the leading cause of death worldwide. 
Statins reduce morbidity and mortality of CAD. Intake of n-3 polyunsaturated fatty acid (n-3 PUFAs), particularly eicosapentaenoic acid (EPA), is associated with reduced morbidity and mortality in patients with CAD. Previous data indicate that a higher conversion of precursor fatty acids (FAs) to arachidonic acid (AA) is associated with increased CAD prevalence. 
Our study explored the FA composition in blood to assess n-3 PUFA levels from patients with and without CAD. We analyzed blood samples from 273 patients undergoing cardiac catheterization. Patients were stratified according to clinically relevant CAD (n = 192) and those without (n = 81). FA analysis in full blood was performed by gas chromatography. Indicating increased formation of AA from precursors, the ratio of dihomo-gamma-linolenic acid (DGLA) to AA, the delta-5 desaturase index (D5D index) was higher in CAD patients. CAD patients had significantly lower levels of omega-6 polyunsaturated FAs (n-6 PUFA) and n-3 PUFA, particularly EPA, in the blood. 
Thus, our study supports a role of increased EPA levels for cardioprotection.
KW  - coronary artery disease
KW  - triglycerides
KW  - polyunsaturated fatty acids
KW  - n-3 PUFA
KW  - statins
KW  - arachidonic acid
Y1  - 2022
U6  - https://doi.org/10.3390/ijms23020766
SN  - 1422-0067
SN  - 1661-6596
VL  - 23
IS  - 2
PB  - Molecular Diversity Preservation International
CY  - Basel
ER  -