Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distribution
Aldo-keto reductases (AKRs), particularly family member D1 (AKR1D1), play a crucial role in steroid hormone metabolism and bile acid biosynthesis. Following the identification of the AKR1D1*36 C>T (rs1872930) variant as a predictive marker for the activity of multiple cytochrome P450 enzymes wit...
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| Format: | Article |
| Language: | English |
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University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy and Macedonian Pharmaceutical Association
2025-06-01
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| Series: | Makedonsko Farmacevtski Bilten |
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| Online Access: | https://bulletin.mfd.org.mk/volumes/Volume%2071_1/71_1_002.pdf |
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| author | Nora Elshani Korab Ukella Marija Staninova Stojovska Mentor Kurshumliu Ardian Ukmata Daut Gorani Aleksandra Kapedanovska Nestorovska |
| author_facet | Nora Elshani Korab Ukella Marija Staninova Stojovska Mentor Kurshumliu Ardian Ukmata Daut Gorani Aleksandra Kapedanovska Nestorovska |
| author_sort | Nora Elshani |
| collection | DOAJ |
| description | Aldo-keto reductases (AKRs), particularly family member D1 (AKR1D1), play a crucial role in steroid hormone metabolism and bile acid biosynthesis. Following the identification of the AKR1D1*36 C>T (rs1872930) variant as a predictive marker for the activity of
multiple cytochrome P450 enzymes within the metabolic network, studies have been conducted that potentially associate it with therapy
response. However, its prevalence and association with cardiovascular disease (CVD) remain understudied, particularly in European populations, including Kosovo. This study aimed to investigate the frequency of the AKR1D1*36 variant in a cohort of 384 unrelated
individuals of Albanian ethnicity from Kosovo, comprising 150 CVD patients and 234 healthy controls. No significant differences in allele
or genotype distributions were observed between the cardiovascular disease (CVD) patients and healthy controls (p > 0.05), indicating no
independent association between the AKR1D1*36 variant and CVD. The overall frequency of the AKR1D1*36 allele in the total study population was 21.74%, which is consistent with the frequency reported for European population. The distribution of AKR1D1*36 genotypes in the study population was 5.73% for *36/*36, 32.03% for *1/*36, and 62.4% for *1/*1. These findings provide the first insight into AKR1D1*36 prevalence in Kosovo, contributing to the understanding of genetic diversity in underrepresented European groups. While no direct link to CVD was observed, these findings highlight the need for further research into AKR1D1*36 variation, particularly in the context of pharmacogenetics and disease susceptibility. |
| format | Article |
| id | doaj-art-86159774847c4dcfab017dacdfb19b81 |
| institution | Kabale University |
| issn | 1409-8695 1857-8969 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy and Macedonian Pharmaceutical Association |
| record_format | Article |
| series | Makedonsko Farmacevtski Bilten |
| spelling | doaj-art-86159774847c4dcfab017dacdfb19b812025-08-20T03:30:32ZengUniversity Ss Cyril and Methodius in Skopje, Faculty of Pharmacy and Macedonian Pharmaceutical AssociationMakedonsko Farmacevtski Bilten1409-86951857-89692025-06-01711111710.33320/maced.pharm.bull.2025.71.01.002Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distributionNora ElshaniKorab Ukella0Marija Staninova Stojovska1Mentor Kurshumliu2Ardian Ukmata3Daut Gorani4Aleksandra Kapedanovska Nestorovska5Faculty of Pharmacy, Alma Mater Europaea Campus College “REZONANCA”, Glloku te Shelgjet ”Veternik”, 10000 Prishtina, Republic of KosovoInstitute of Pharmaceutical Chemistry, Faculty of Pharmacy, Ss. Cyril and Methodius University in Skopje, Majka Tereza 47, 1000 Skopje, Republic of North Macedonia 3Prolab Laboratory Diagnostics Center, Ulpiana D2, Muslim Mulliqi 35, 10000 PrishtiProlab Laboratory Diagnostics Center, Ulpiana D2, Muslim Mulliqi 35, 10000 Prishtina, Republic of KosovoFaculty of Pharmacy, Alma Mater Europaea Campus College “REZONANCA”, Glloku te Shelgjet ”Veternik”, 10000 Prishtina, Republic of KosovoUniversity Clinical Center of Kosova, J5V6+98V, 10000 Prishtina, Republic of KosovoInstitute of Pharmaceutical Chemistry, Faculty of Pharmacy, Ss. Cyril and Methodius University in Skopje, Majka Tereza 47, 1000 Skopje, Republic of North MacedoniaAldo-keto reductases (AKRs), particularly family member D1 (AKR1D1), play a crucial role in steroid hormone metabolism and bile acid biosynthesis. Following the identification of the AKR1D1*36 C>T (rs1872930) variant as a predictive marker for the activity of multiple cytochrome P450 enzymes within the metabolic network, studies have been conducted that potentially associate it with therapy response. However, its prevalence and association with cardiovascular disease (CVD) remain understudied, particularly in European populations, including Kosovo. This study aimed to investigate the frequency of the AKR1D1*36 variant in a cohort of 384 unrelated individuals of Albanian ethnicity from Kosovo, comprising 150 CVD patients and 234 healthy controls. No significant differences in allele or genotype distributions were observed between the cardiovascular disease (CVD) patients and healthy controls (p > 0.05), indicating no independent association between the AKR1D1*36 variant and CVD. The overall frequency of the AKR1D1*36 allele in the total study population was 21.74%, which is consistent with the frequency reported for European population. The distribution of AKR1D1*36 genotypes in the study population was 5.73% for *36/*36, 32.03% for *1/*36, and 62.4% for *1/*1. These findings provide the first insight into AKR1D1*36 prevalence in Kosovo, contributing to the understanding of genetic diversity in underrepresented European groups. While no direct link to CVD was observed, these findings highlight the need for further research into AKR1D1*36 variation, particularly in the context of pharmacogenetics and disease susceptibility.https://bulletin.mfd.org.mk/volumes/Volume%2071_1/71_1_002.pdfakr1d1*36cardiovascular diseasekosovogenetic polymorphismpharmacogeneticscaucasian population |
| spellingShingle | Nora Elshani Korab Ukella Marija Staninova Stojovska Mentor Kurshumliu Ardian Ukmata Daut Gorani Aleksandra Kapedanovska Nestorovska Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distribution Makedonsko Farmacevtski Bilten akr1d1*36 cardiovascular disease kosovo genetic polymorphism pharmacogenetics caucasian population |
| title | Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distribution |
| title_full | Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distribution |
| title_fullStr | Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distribution |
| title_full_unstemmed | Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distribution |
| title_short | Analysis of the AKR1D1*36 (rs1872930) genetic variant in the Kosovo population: allele frequency and genotype distribution |
| title_sort | analysis of the akr1d1 36 rs1872930 genetic variant in the kosovo population allele frequency and genotype distribution |
| topic | akr1d1*36 cardiovascular disease kosovo genetic polymorphism pharmacogenetics caucasian population |
| url | https://bulletin.mfd.org.mk/volumes/Volume%2071_1/71_1_002.pdf |
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