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Article ; Online: An association between PPARα-L162V polymorphism and increased plasma LDL cholesterol levels after risperidone treatment.

Nadalin, Sergej / Zatković, Lena / Peitl, Vjekoslav / Karlović, Dalibor / Vilibić, Maja / Silić, Ante / Dević Pavlić, Sanja / Buretić-Tomljanović, Alena

Prostaglandins, leukotrienes, and essential fatty acids

2023 Volume 200, Page(s) 102604

Abstract: Peroxisome proliferator-activated receptor alpha (PPARα) and antipsychotic medications both influence polyunsaturated fatty acids (PUFA) homeostasis, and thus PPARα polymorphism may be linked to antipsychotic treatment response. Here we investigated ... ...

Abstract	Peroxisome proliferator-activated receptor alpha (PPARα) and antipsychotic medications both influence polyunsaturated fatty acids (PUFA) homeostasis, and thus PPARα polymorphism may be linked to antipsychotic treatment response. Here we investigated whether the functional leucine 162 valine (L162V) polymorphism in PPARα influenced antipsychotic treatment in a group of psychosis patients (N = 186), as well as in a patient subgroup with risperidone, paliperidone, or combination treatment (N = 65). Antipsychotic-naïve first-episode patients and nonadherent chronic individuals were genotyped by polymerase chain reaction analysis. At baseline, and after 8 weeks of treatment with various antipsychotic medications, we assessed the patients' Positive and Negative Syndrome Scale (PANSS) scores; PANSS factors; and metabolic syndrome-related parameters, including fasting plasma lipid and glucose levels, and body mass index. In the total patient group, PPARα polymorphism did not affect PANSS psychopathology or metabolic parameters. However, in the subgroup of patients with risperidone, paliperidone, or combination treatment, PPARα polymorphism influenced changes in plasma LDL cholesterol. Specifically, compared to PPARα-L162L homozygous patients, PPARα-L162V heterozygous individuals exhibited significantly higher increases of LDL cholesterol levels after antipsychotic treatment. The PPARα polymorphism had a strong effect size, but a relatively weak contribution to LDL cholesterol level variations (∼12.8 %).
MeSH term(s)	Humans ; PPAR alpha/genetics ; Risperidone/therapeutic use ; Cholesterol, LDL ; Leucine ; Antipsychotic Agents/therapeutic use ; Paliperidone Palmitate/therapeutic use ; Valine
Chemical Substances	PPAR alpha ; Risperidone (L6UH7ZF8HC) ; Cholesterol, LDL ; Leucine (GMW67QNF9C) ; Antipsychotic Agents ; Paliperidone Palmitate (R8P8USM8FR) ; Valine (HG18B9YRS7)
Language	English
Publishing date	2023-12-13
Publishing country	Scotland
Document type	Journal Article
ZDB-ID	286714-x
ISSN	1532-2823 ; 0952-3278
ISSN (online)	1532-2823
ISSN	0952-3278
DOI	10.1016/j.plefa.2023.102604
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Article ; Online: Non-genetic physicians' knowledge, attitudes and behavior towards medical genetics.

Mladenić, Tea / Mavrinac, Martina / Dević Pavlić, Sanja / Malnar, Anna / Matić, Matea / Mikić, Sara / Ostojić, Saša / Pereza, Nina

Wiener klinische Wochenschrift

2023 Volume 136, Issue 5-6, Page(s) 137–145

Abstract: To examine the knowledge, behavior, and attitudes toward medical genetics among obstetrics and gynecology, pediatrics, and neurology residents and specialists, who encounter the highest number of patients with specific genetic disorders, in their ... ...

Abstract	To examine the knowledge, behavior, and attitudes toward medical genetics among obstetrics and gynecology, pediatrics, and neurology residents and specialists, who encounter the highest number of patients with specific genetic disorders, in their everyday practice. The cross-sectional study involved 182 nongenetic residents and specialists in the Republic of Croatia, who completed a validated online questionnaire anonymously and voluntarily. The questionnaire consisted of five groups of questions: general information, knowledge, behavior in practice, attitude toward genetic testing, and additional education in medical genetics. The median score for overall knowledge of medical genetics was 70.2% among obstetrician-gynecologists, 80.5% among pediatricians, and 76.7% among neurologists (P < 0.001, lowest median in obstetrician-gynecologists). When asked about their behavior in daily practice, around 90% of respondents admitted the possibility of not recognizing patients with genetic disorders, which is why more than 90% emphasized the need for additional education in medical genetics. In addition, the respondents showed a positive attitude toward genetic testing, but they did not feel educated enough to interpret the results of genetic testing. The results highlight the need for further genetic education of non-genetic health professionals, which would lead to greater confidence and ability to recognize patients with genetic disorders, select the appropriate genetic testing method and achieve more efficient communication with patients.
MeSH term(s)	Female ; Pregnancy ; Humans ; Child ; Health Knowledge, Attitudes, Practice ; Genetics, Medical ; Cross-Sectional Studies ; Gynecology ; Obstetrics ; Physicians ; Surveys and Questionnaires ; Attitude of Health Personnel
Language	English
Publishing date	2023-02-10
Publishing country	Austria
Document type	Journal Article
ZDB-ID	200462-8
ISSN	1613-7671 ; 0043-5325 ; 0300-5178
ISSN (online)	1613-7671
ISSN	0043-5325 ; 0300-5178
DOI	10.1007/s00508-023-02152-0
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Article ; Online: ACE I/D polymorphism and epidemiological findings for COVID-19: One year after the pandemic outbreak in Europe.

Ristić, Smiljana / Pavlić, Sanja Dević / Nadalin, Sergej / Čizmarević, Nada Starčević

The Journal of infection

2021 Volume 83, Issue 3, Page(s) 381–412

MeSH term(s)	COVID-19 ; Disease Outbreaks ; Europe/epidemiology ; Humans ; Pandemics ; SARS-CoV-2
Language	English
Publishing date	2021-06-16
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	424417-5
ISSN	1532-2742 ; 0163-4453
ISSN (online)	1532-2742
ISSN	0163-4453
DOI	10.1016/j.jinf.2021.06.002
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Article: Could angiotensin-converting enzyme 1 I/D polymorphism be a modificator of COVID-19 response in different populations, diseases, and/or conditions?

Devic Pavlic, Sanja / Nadalin, Sergej / Starcevic Cizmarevic, Nada / Buretic-Tomljanovic, Alena / Radojcic Badovinac, Andelka / Ristic, Smiljana

J Renin Angiotensin Aldosterone Syst

Keywords	covid19
Publisher	WHO
Document type	Article
Note	WHO #Covidence: #768319
Database	COVID19

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Article ; Online: Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naïve first-episode psychosis patients and nonadherent chronic psychosis patients.

Nadalin, Sergej / Zatković, Lena / Peitl, Vjekoslav / Karlović, Dalibor / Vidrih, Branka / Puljić, Antonia / Pavlić, Sanja Dević / Buretić-Tomljanović, Alena

Prostaglandins, leukotrienes, and essential fatty acids

2023 Volume 194, Page(s) 102578

Abstract: Here we investigated whether antipsychotic treatment was influenced by three polymorphisms: rs10798059 (BanI) in the phospholipase A2 (PLA2)G4A gene, rs4375 in PLA2G6, and rs1549637 in PLA2G4C. A total of 186 antipsychotic-naïve first-episode psychosis ... ...

Abstract	Here we investigated whether antipsychotic treatment was influenced by three polymorphisms: rs10798059 (BanI) in the phospholipase A2 (PLA2)G4A gene, rs4375 in PLA2G6, and rs1549637 in PLA2G4C. A total of 186 antipsychotic-naïve first-episode psychosis patients or nonadherent chronic psychosis individuals (99 males and 87 females) were genotyped by polymerase chain reaction analysis/restriction fragment length polymorphism. At baseline, and after 8 weeks of treatment with various antipsychotic medications, we assessed patients' Positive and Negative Syndrome Scale (PANSS) scores, PANSS factors, and metabolic syndrome-related parameters (fasting plasma lipid and glucose levels, and body mass index). We found that PLA2G4A polymorphism influenced changes in PANSS psychopathology, and PLA2G6 polymorphism influenced changes in PANSS psychopathology and metabolic parameters. PLA2G4C polymorphism did not show any impact on PANSS psychopathology or metabolic parameters. The polymorphisms' effect sizes were estimated as moderate to strong, with contributions ranging from around 6.2-15.7%. Furthermore, the polymorphisms' effects manifested in a gender-specific manner.
MeSH term(s)	Female ; Humans ; Male ; Antipsychotic Agents/therapeutic use ; Genotype ; Polymorphism, Genetic ; Psychotic Disorders/drug therapy ; Psychotic Disorders/genetics ; Group VI Phospholipases A2/genetics
Chemical Substances	Antipsychotic Agents ; PLA2G6 protein, human (EC 3.1.1.4) ; PLA2G4C protein, human (EC 3.1.1.-) ; Group VI Phospholipases A2 (EC 3.1.1.4)
Language	English
Publishing date	2023-06-01
Publishing country	Scotland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	286714-x
ISSN	1532-2823 ; 0952-3278
ISSN (online)	1532-2823
ISSN	0952-3278
DOI	10.1016/j.plefa.2023.102578
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Article ; Online: Association between Insertion-Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene and Treatment Response to Antipsychotic Medications: A Study of Antipsychotic-Naïve First-Episode Psychosis Patients and Nonadherent Chronic Psychosis Patients.

Nadalin, Sergej / Dević Pavlić, Sanja / Peitl, Vjekoslav / Karlović, Dalibor / Zatković, Lena / Ristić, Smiljana / Buretić-Tomljanović, Alena / Jakovac, Hrvoje

International journal of molecular sciences

2022 Volume 23, Issue 20

Abstract: We investigated whether a functional insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) influenced antipsychotic treatment. At baseline, and after 8 weeks of treatment with various antipsychotic medications, we assessed patients’ ...

Abstract	We investigated whether a functional insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) influenced antipsychotic treatment. At baseline, and after 8 weeks of treatment with various antipsychotic medications, we assessed patients’ Positive and Negative Syndrome Scale (PANSS) scores, PANSS factors, and metabolic-syndrome-related parameters (fasting plasma lipid and glucose levels, and body mass index). A total of 186 antipsychotic-naïve first-episode psychosis patients or nonadherent chronic psychosis individuals (99 males and 87 females) were genotyped by polymerase chain reaction analysis. The ACE-I/D polymorphism was significantly associated with changes in PANSS psychopathology only (p < 0.05). Compared to ACE-II homozygous males, ACE-DD homozygous and ACE-ID heterozygous males manifested significantly greater decreases in PANSS positive score, PANSS excitement factor, and PANSS cognitive factor. ACE-DD homozygous females manifested higher decreases in PANSS depression factor compared to ACE-II homozygous and ACE-ID heterozygous females. The polymorphism’s effect size was estimated as moderate to strong, while its contribution to the PANSS psychopathology ranged from ~5.4 to 8.7%, with the lowest contribution observed for PANSS positive score changes and the highest for PANSS depressive factor changes. Our results indicate that ACE-I/D polymorphism had a statistically significant but weak gender-specific impact on psychopathology data, and showed no association between ACE-I/D polymorphism and metabolic-syndrome-related parameters.
MeSH term(s)	Male ; Female ; Humans ; Antipsychotic Agents/therapeutic use ; Peptidyl-Dipeptidase A/genetics ; Genotype ; Metabolic Syndrome ; Psychotic Disorders/drug therapy ; Psychotic Disorders/genetics ; Angiotensins/genetics ; Glucose ; Lipids
Chemical Substances	Antipsychotic Agents ; Peptidyl-Dipeptidase A (EC 3.4.15.1) ; Angiotensins ; Glucose (IY9XDZ35W2) ; Lipids
Language	English
Publishing date	2022-10-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms232012180
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Article ; Online: Matrix metalloproteinase and tissue inhibitors of metalloproteinases gene polymorphisms in disorders that influence fertility and pregnancy complications: A systematic review and meta-analysis.

Barišić, Anita / Dević Pavlić, Sanja / Ostojić, Saša / Pereza, Nina

Gene

2018 Volume 647, Page(s) 48–60

Abstract: Matrix metalloproteinase (MMP) and tissue inhibitors of metalloproteinase (TIMP) gene polymorphisms have been extensively evaluated as predisposing factors to human reproductive disorders. However, the evidence available is inconsistent. Therefore, we ... ...

Abstract	Matrix metalloproteinase (MMP) and tissue inhibitors of metalloproteinase (TIMP) gene polymorphisms have been extensively evaluated as predisposing factors to human reproductive disorders. However, the evidence available is inconsistent. Therefore, we performed a systematic review and meta-analysis to provide the first comprehensive synopsis of case-control studies that investigated the association of MMP and TIMP gene polymorphisms with disorders that influence fertility and pregnancy complications. Literature search was performed using PubMed and Scopus databases. We included 42 case-control studies in the systematic review for the following disorders: adenomyosis, endometriosis, hypertensive disorders of pregnancy, preterm birth and recurrent spontaneous abortion. Although a large number of MMP and TIMP gene polymorphisms were tested, no exclusive and unambiguous risk factors were identified for any of the disorders. The majority of statistically significant associations were confirmed in just one study. Additionally, we performed two meta-analyses for MMP9 rs3918242 polymorphism in endometriosis/adenomyosis and preeclampsia but found no association with either disorder. Considering the modest associations and conflicting results between individual case-control studies, new data is needed for further research of this subject.
MeSH term(s)	Case-Control Studies ; Female ; Fertility/genetics ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Matrix Metalloproteinases/genetics ; Polymorphism, Single Nucleotide/genetics ; Pregnancy ; Pregnancy Complications/genetics ; Risk Factors ; Tissue Inhibitor of Metalloproteinases/genetics
Chemical Substances	Tissue Inhibitor of Metalloproteinases ; Matrix Metalloproteinases (EC 3.4.24.-)
Language	English
Publishing date	2018-03-20
Publishing country	Netherlands
Document type	Journal Article ; Meta-Analysis
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2018.01.010
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Article ; Online: Association between Insertion-Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene and Treatment Response to Antipsychotic Medications

Sergej Nadalin / Sanja Dević Pavlić / Vjekoslav Peitl / Dalibor Karlović / Lena Zatković / Smiljana Ristić / Alena Buretić-Tomljanović / Hrvoje Jakovac

International Journal of Molecular Sciences, Vol 23, Iss 20, p

A Study of Antipsychotic-Naïve First-Episode Psychosis Patients and Nonadherent Chronic Psychosis Patients

2022 Volume 12180

Abstract	We investigated whether a functional insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) influenced antipsychotic treatment. At baseline, and after 8 weeks of treatment with various antipsychotic medications, we assessed patients’ Positive and Negative Syndrome Scale (PANSS) scores, PANSS factors, and metabolic-syndrome-related parameters (fasting plasma lipid and glucose levels, and body mass index). A total of 186 antipsychotic-naïve first-episode psychosis patients or nonadherent chronic psychosis individuals (99 males and 87 females) were genotyped by polymerase chain reaction analysis. The ACE-I/D polymorphism was significantly associated with changes in PANSS psychopathology only ( p < 0.05). Compared to ACE-II homozygous males, ACE-DD homozygous and ACE-ID heterozygous males manifested significantly greater decreases in PANSS positive score, PANSS excitement factor, and PANSS cognitive factor. ACE-DD homozygous females manifested higher decreases in PANSS depression factor compared to ACE-II homozygous and ACE-ID heterozygous females. The polymorphism’s effect size was estimated as moderate to strong, while its contribution to the PANSS psychopathology ranged from ~5.4 to 8.7%, with the lowest contribution observed for PANSS positive score changes and the highest for PANSS depressive factor changes. Our results indicate that ACE-I/D polymorphism had a statistically significant but weak gender-specific impact on psychopathology data, and showed no association between ACE-I/D polymorphism and metabolic-syndrome-related parameters.
Keywords	angiotensin-converting enzyme (ACE) ; antipsychotic medication ; polymorphism ; insertion/deletion ; treatment response ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	610
Language	English
Publishing date	2022-10-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Could angiotensin-converting enzyme 1

Dević Pavlić, Sanja / Nadalin, Sergej / Starčević Čizmarević, Nada / Buretić-Tomljanović, Alena / Radojčić Badovinac, Anđelka / Ristić, Smiljana

Journal of the renin-angiotensin-aldosterone system : JRAAS

2020 Volume 21, Issue 3, Page(s) 1470320320957157

MeSH term(s)	Alleles ; Betacoronavirus/physiology ; COVID-19 ; Coronavirus Infections/genetics ; Coronavirus Infections/virology ; Humans ; INDEL Mutation/genetics ; Pandemics ; Peptidyl-Dipeptidase A/genetics ; Pneumonia, Viral/genetics ; Pneumonia, Viral/virology ; SARS-CoV-2
Chemical Substances	Peptidyl-Dipeptidase A (EC 3.4.15.1)
Keywords	covid19
Language	English
Publishing date	2020-09-14
Publishing country	England
Document type	Letter
ZDB-ID	2086948-4
ISSN	1752-8976 ; 1470-3203
ISSN (online)	1752-8976
ISSN	1470-3203
DOI	10.1177/1470320320957157
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Article: Association between the ACE-I/D polymorphism and nicotine dependence amongst patients with lung cancer.

Nadalin, Sergej / Flego, Veljko / Pavlić, Sanja Dević / Volarić, Darian / Radojčić Badovinac, Anđelka / Kapović, Miljenko / Ristić, Smiljana

Biomedical reports

2020 Volume 13, Issue 6, Page(s) 58

Abstract: The biologically active peptide angiotensin II is cleaved from angiotensinogen by the renin and the angiotensin-converting enzyme (ACE), an enzymatic cascade known as the renin-angiotensin system (RAS). RAS may be important in the etiology of nicotine ... ...

Abstract	The biologically active peptide angiotensin II is cleaved from angiotensinogen by the renin and the angiotensin-converting enzyme (ACE), an enzymatic cascade known as the renin-angiotensin system (RAS). RAS may be important in the etiology of nicotine dependence by influencing dopaminergic signaling. In the present study, the association between an insertion/deletion (I/D) polymorphism of ACE and nicotine dependence amongst patients with lung cancer was assessed. To date, several studies have shown the relevance of this polymorphic variant in both nicotine dependence and lung cancer. However, the present study is the first to address the potential role of the ACE-I/D polymorphism in nicotine dependence among patients with lung cancer. Genotyping was performed in 305 patients with lung cancer (males/females, 214/91). Significantly more male smokers had the ACE-I allele compared with male non-smokers (44.9 vs. 20.0%; P<0.05). The risk of smoking was ~5-fold higher for males with the ACE-I allele (ACE-II homozygous and ACE-ID heterozygous) vs. ACE-DD homozygous (odds ratio, 5.47; 95% confidence interval, 1.4-21.9; P=0.016). The pack-year smoking history in a subgroup of females with squamous cell carcinoma carrying the ACE-I allele was significantly lower compared with ACE-DD (37.1±14.1 vs. 57.0±29.1; F=4.5; P=0.046). The ACE-I/D polymorphism accounted for 17.6% of the smoking severity in this patient group (β, -0.42; multiple R
Language	English
Publishing date	2020-10-13
Publishing country	England
Document type	Journal Article
ZDB-ID	2763624-0
ISSN	2049-9442 ; 2049-9434
ISSN (online)	2049-9442
ISSN	2049-9434
DOI	10.3892/br.2020.1365
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