ATP-binding Cassette Sub-family G Member 2 Gene Research Articles

Genetic Variants in the ABCB1 and ABCG2 Gene Drug Transporters Involved in Gefitinib-Associated Adverse Reaction: A Systematic Review and Meta-Analysis.

This systematic review and meta-analysis aimed to verify the association between the genetic variants of adenosine triphosphate (ATP)-binding cassette subfamily B member 1 (ABCB1) and ATP-binding cassette subfamily G member 2 (ABCG2) genes and the presence and severity of gefitinib-associated adverse reactions. We systematically searched PubMed, Virtual Health Library/Bireme, Scopus, Embase, and Web of Science databases for relevant studies published up to February 2024. In total, five studies were included in the review. Additionally, eight genetic variants related to ABCB1 (rs1045642, rs1128503, rs2032582, and rs1025836) and ABCG2 (rs2231142, rs2231137, rs2622604, and 15622C>T) genes were analyzed. Meta-analysis showed a significant association between the ABCB1 gene rs1045642 TT genotype and presence of diarrhea (OR = 5.41, 95% CI: 1.38-21.14, I2 = 0%), the ABCB1 gene rs1128503 TT genotype and CT + TT group and the presence of skin rash (OR = 4.37, 95% CI: 1.51-12.61, I2 = 0% and OR = 6.99, 95%CI: 1.61-30.30, I2= 0%, respectively), and the ABCG2 gene rs2231142 CC genotype and presence of diarrhea (OR = 3.87, 95% CI: 1.53-9.84, I2 = 39%). No ABCB1 or ABCG2 genes were positively associated with the severity of adverse reactions associated with gefitinib. In conclusion, this study showed that ABCB1 and ABCG2 variants are likely to exhibit clinical implications in predicting the presence of adverse reactions to gefitinib.

Molecular Characteristics and Polymorphisms of Buffalo (Bubalus bubalis) ABCG2 Gene and Its Role in Milk Fat Synthesis.

The ATP-binding cassette subfamily G member 2 (ABCG2) serves crucial roles in secreting riboflavin and biotin vitamins into the milk of cattle, mice, and humans, as well as in the transportation of xenotoxic and cytostatic drugs across the plasma membrane. However, the specific role of the ABCG2 gene in water buffaloes (Bubalus bubalis), especially its effect on milk fat synthesis in buffalo mammary epithelial cells (BuMECs), remains inadequately understood. In this study, the full-length CDS of the buffalo ABCG2 gene was isolated and identified from the mammary gland in buffaloes. A bioinformatics analysis showed a high degree of similarity in the transcriptional region, motifs, and conservative domains of the buffalo ABCG2 with those observed in other Bovidae species. The functional role of buffalo ABCG2 was associated with the transportation of solutes across lipid bilayers within cell membranes. Among the 11 buffalo tissues detected, the expression levels of ABCG2 were the highest in the liver and brain, followed by the mammary gland, adipose tissue, heart, and kidney. Notably, its expression in the mammary gland was significantly higher during peak lactation than during non-lactation. The ABCG2 gene was identified with five SNPs in river buffaloes, while it was monomorphic in swamp buffaloes. Functional experiments revealed that ABCG2 increased the triglyceride (TAG) content by affecting the expression of liposynthesis-related genes in BuMECs. The results of this study underscore the pivotal role of the ABCG2 gene in influencing the milk fat synthesis in BuMECs.

Investigation of MRP1 and ABCG2 Gene Expression in Chronic Myeloid Leukemia (CML) Patients

Background: This study evaluated and compared the quantitative expression of multidrug resistance-associated protein 1 (MRP1) and ATP-binding cassette subfamily G member 2 (ABCG2), two Multidrug Resistance (MDR) related genes, in 30 CML patients and 27 normal subjects.
 Methods: Total RNA was isolated from peripheral blood mononuclear cells (MNCs) using the Trizol reagent. Then cDNAs were synthesized. Gene expression was quantified using Real-Time PCR System. The relative expression of target genes was calculated using the 2-ΔΔCt method.
 Results: High expression of MRP1 and ABCG2 mRNAs were detected in the patient group. Intra-group comparisons also revealed increased expression of ABCG2 in Accelerated Phase (AP)-Blastic Crisis (BC) patients compared to Chronic Phase (CP) patients. At the same time, the increased expression of MRP1 in AP-BC patients was not statistically significant.
 Conclusion: Considering the broad spectrum of ATP Binding Cassette (ABC) transporter superfamily substrates, they can play an essential role in cell fate determination. High expression of MRP1 and ABCG2 genes can result in the efflux of therapeutic agents and subsequent reduction in their intracellular concentration. This mechanism finally protects cells from the therapeutic effects of medications. On the other hand, these transporters can export growth factors out of the cell. Such exported molecules may have a growth-inducing effect on adjacent cells. These are the possible mechanisms for the participation of MRP1 and ABCG2 genes in conferring drug resistance to CML cells.

SLCO1B1 and ABCG2 Gene Polymorphisms in a Thai Population.

IntroductionGenetic polymorphisms of drug transporters influence drug transporter activity and alter pharmacokinetic profiles of the drugs. Organic anion transporting polypeptide 1B1 (OATP1B1) and breast cancer resistance protein (BCRP) are important transporters encoded by solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene and ATP-binding cassette subfamily G member 2 (ABCG2) gene, respectively. Polymorphisms in these genes are associated with increased plasma statins concentrations, statin-induced myopathy and poor response to allopurinol treatment.PurposeWe explored allele and genotype frequencies of SLCO1B1 and ABCG2 genes including their predicted phenotypes in 53 Thai participants. Of these, 17 had chronic kidney disease and were on statins.Materials and MethodsGenotyping analysis for SLCO1B1 c.521T>C (rs4149056), c.388A>G (rs2306283), g.-11187G>A (rs4149015), and ABCG2 c.421C>A (rs2231142) was done by using TaqMan® Real time PCR. All were tested for Hardy–Weinberg Equilibrium.ResultsMost of the participants (80%) had normal function haplotypes SLCO1B1 (*1A and *1B) while decreased (*5, *15, and *17) and unknown (*21) function haplotypes were less observed. Four phenotypes of SLCO1B1 were observed: 69.81% had normal function (*1A/*1A,*1A/*1B, and *1B/*1B), 13.21% had intermediate function (*1A/*17, *1B/*15 and *1B/*17), 9.43% had indeterminate function (*1A/*21 and *1B/*21) and 7.55% had low function (*5/*15, *15/*15, and *15/*17). ABCG2 c.421A allele frequency was 25%. The frequency of ABCG2 c.421CA and AA phenotypes were 37.7% and 5.7%, respectively. The allele and genotype frequencies observed are consistent with reports in Asians. However, there were differences in major allele distributions between Asians and Caucasians for SLCO1B1 c.388A>G; SLCO1B1 c.388G were highly found in Asians, but c.388A were more observed in Caucasians.ConclusionThis study showed that in the Thai population, there were 4 SNPs of SLCO1B1 and ABCG2 genes. This finding may be clinically applied to minimize inter-individual variability of drugs such as statins and allopurinol. Further study with a larger sample size is needed to assess the drug profiles and responses to treatment.

SATP‑binding cassette subfamilyG member2 enhances the multidrug resistance properties of human nasal natural killer/Tcell lymphoma side population cells.

Extranodal natural killer (NK)/T cell lymphoma, nasal type (ENKL) is a rare type of non-Hodgkin's lymphoma that is associated with limited effective treatment options and unfavorable survival rate, which is partly the result of multidrug resistance (MDR). The presence of side population (SP) cells-SNK-6/ADM-SP (SSP) cells has been previously used to explore mechanisms of drug resistance. ATP-binding cassette subfamily G member 2 (ABCG2) is a gene involved in MDR and is closely associated with SPs. However, the function of ABCG2 in SSP cells is unclear. The present study verified the high expression of ABCG2 in SSP cells. The IC50 values of doxorubicin, cytarabine, cisplatin, gemcitabine and l-asparaginase were tested to evaluate drug sensitivity in SSP cells with different levels of ABCG2 expression. ABCG2 was identified as a gene promoting in MDR. ABCG2 upregulated cell proliferation, increased clonogenicity, increased invasive ability and decreased apoptosis, in vivo and in vitro, when cells were treated with gemcitabine. To conclude, ABCG2 enhanced MDR and increased the typical biological characteristics associated with cancer cells in SP cells. With further investigation of the ABCG2 gene could have the potential to reverse MDR in ENKL.

Identification of Genetic Variants in ABCG2 Gene Influencing Milk Production Traits in Dairy Cattle

This study was performed to investigate the polymorphisms in the ABCG2 (ATP-binding cassette sub-family G member 2) gene and to reveal the association of genotypes with breeding value (BV) for first lactation milk yield and milk composition traits of Karan Fries (HF crossbred) cattle. The traits were adjusted against the significant effect of non-genetic factors. PCR-RFLP analysis of ABCG2 (exon 14) gene revealed three genotypes. AA genotype in ABCG2 gene had significant effect on BV for average test day fat percentage. The identified potential genetic marker could be used for the development of Marker Assisted Selection (MAS) strategy for higher milk yield and milk composition traits in Karan Fries Cattle.

ABCG2 gene polymorphism rs2231142 is associated with gout comorbidities but not allopurinol response in primary gout patients of a Chinese Han male population

BackgroundOne common ATP-binding cassette subfamily G member 2 (ABCG2) gene variant, which is encoded by the single nucleotide polymorphism (SNP) rs2231142, was identified to take an essential part in gouty arthritis. However, the relationship between rs2231142, gout comorbidities and therapeutic effect of allopurinol in Chinese Han male population is still unclear. Wherefore, this study explored into the association between ABCG2 SNP rs2231142 affecting common comorbidities and the therapeutic effect of allopurinol in Chinese Han male gout patients.ResultsABCG2 SNP rs2231142 and the gout comorbidities including nephrolithiasis and CKD were associated (P = 0.014 and P = 0.026). Group CKD stage = 1 were significantly different from those in group CKD stage≥2 regarding genotypes of ABCG2 gene polymorphism, while they were not significantly different from those in group CKD stage≥3. Meanwhile, the genotypes of rs2231142 and allopurinol response were not significantly associated (P = 0.588).ConclusionsABCG2 rs2231142 may predict the risk of kidney comorbidities for Chinese Han male gout patients, but not allopurinol response.

Association between polymorphism of ABCG2 gene and somatic cell count in Czech dairy sheep breeds

In the Czech Republic, dairy sheep have traditionally been used as a dual-purpose species, generating income from both milk and meat. The functionality and health of the mammary gland are directly correlated with milk production, as well as with the hygiene and quality of milk and dairy products. Mastitis is one of the main infectious diseases in dairy sheep. One of the candidate genes that affect milk production traits is the ATP-binding cassette sub-family G member 2 (ABCG2) gene. The ABCG2 gene, a member of the ATP-binding cassette family, transports cytostatic and xenobiotic drugs across the cytoplasmic membrane. The study was based on 1747 records from 387 head of dairy sheep of the Lacaune breed (139) and the East Friesian breed (248). The analysis was performed by means of polymerase chain reactions (PCR). Genomic DNA was extracted from blood. Phenotype data used in the study were provided by the Association of Sheep and Goat Breeders in the Czech Republic (ASGB). We typed all three genotypes: DD, DI and II. In the Lacaune breed, the frequency of occurrence of the major D allele was 0.694, and the minor I allele had a frequency of occurrence of 0.306. In contrast, in East Friesian sheep the frequency of allele D was 0.216 and that of allele I was 0.784. Mutation c.683-80_46del in the intron 5 region of the ABCG2 gene confirmed the effect on somatic cell count in the dairy sheep population observed in this study. Further studies are needed to evaluate this possible association in other sheep breed populations. Mutation c.683-80_46del in intron 5 of the ABCG2 gene could be used as a candidate gene for somatic cell count..

The developmental transcription factor IRF6 attenuates ABCG2 gene expression and distinctively reverses stemness phenotype in nasopharyngeal carcinoma

Nasopharyngeal carcinoma (NPC), which originates from the nasopharynx, is highly prevalent in Southern China and Southeast Asia, and more than 90% of all NPCs are non-keratinizing undifferentiated cells or poorly differentiated squamous cells. Cancer stem cells (CSCs) are capable of self-renewal and have differentiation potential. These properties form the basis of cancer initiation, development, and radiochemoresistance. However, the molecular mechanisms underlying NPC CSC maintenance remain poorly understood. Here, genomic expression profiling using our previously established monoclonal cellular and animal models revealed that interferon regulatory factor 6 (IRF6) was downregulated in highly metastatic NPC cells, cancer stem-like NPC cells and animal models. Functional assays revealed that elevated IRF6 expression suppressed cell proliferation, growth, CSCs properties and enhanced cell chemotherapeutic sensitivity. However, silencing IRF6 resulted in opposing effects. Moreover, we determined that as a tumor suppressor gene and transcription factor, IRF6 directly bound the upstream region of the ATP-binding cassette sub-family G member 2 (ABCG2) DNA element and suppressed target ABCG2 expression in NPC cells. Consistently, an inverse correlation was observed between the mRNA levels of IRF6 and ABCG2 in clinical NPC samples. With these results, we provide the first evidence that IRF6 directly targets the ABCG2 gene and selectively kills CSCs in NPC and that IRF6 may be a valuable tool for developing new CSC-targeted treatment strategies for undifferentiated NPC patients.

Genetic variation in the ABCG2 gene is associated with gout risk in the Chinese Han population.

Gout is a common type of arthritis that is characterized by hyperuricemia, tophi, and joint inflammation. Current evidence suggests that heredity contributes to the progression of gout. Previous studies have shown that regulation of the ATP-binding cassette subfamily G member 2 (ABCG2) pathways plays a role in gout occurrence. To investigate and validate potential genetic associations with the risk of gout, we conducted a case-control study. We conducted 143 cases and 310 controls and genotyped seven single-nucleotide polymorphisms (SNPs) in ABCG2 gene. ABCG2 SNP association analyses were performed using SPSS 17.0 Statistical Package, PLINK Software, HaploView software package, and SHEsis software platform. We identified that four susceptibility SNPs were potentially associated with occurrence of gout. Rs2622621 and rs3114018 in ABCG2 can actually increase the risk of gout in log-additive model (rs2622621, odds ratio (OR) = 1.90, 95% confidence interval (CI) 1.39-2.61, p < 0.001; rs3114018, OR = 1.55, 95% CI 1.13-2.13, p = 0.006). We found that rs17731799G/T-G/G and rs3114020 T/C-T/T in ABCG2 can actually increase the risk of gout in dominant model (rs17731799, OR = 1.67, 95% CI 1.05-2.66, p = 0.028; rs3114020, OR = 1.58, 95% CI 1.00-2.51, p = 0.048). The ABCG2 haplotype "GGCTCTC" (OR = 0.46, 95% CI 0.28-0.75, p = 0.0019) decreased the gout risk. Our results, combined with those from previous studies, suggest that genetic variation in ABCG2 may influence gout susceptibility in the Han population.

The Regulation of the Expression of &lt;i&gt;ABCG2&lt;/i&gt; Gene through Mitogen-Activated Protein Kinase Pathways in Canine Lymphoid Tumor Cell Lines

ABSTRACTTreatments for canine lymphoma often fail, because tumor cells acquire multidrug resistance (MDR). MDR can develop through several mechanisms, among which the overexpression of drug transporters in tumor cells is a well-studied mechanism. ATP-binding cassette sub-family G member 2 (ABCG2) belongs to the ABC-transporters, that are representative drug efflux pumps associated with MDR in human tumor cells. However, the regulation of ABCG2 gene expression in canine tumors is not well understood. The purpose of the present study was to reveal the regulatory mechanism of ABCG2 gene expression in 4 canine lymphoid tumor cell lines, GL-1, CLBL-1, UL-1 and Ema. Treatment with phorbol 12-myristate 13-acetate (PMA), the protein kinase C (PKC) activator, stimulated MAPK/ERK pathway in GL-1, UL-1 and Ema cells and JNK pathway in UL-1 and Ema cells. When GL-1 and UL-1 cells were treated with PMA and the MAPK/ERK kinase inhibitor U0126, ABCG2 gene expression levels were elevated above those in untreated cells. Similarly, ABCG2 gene expression increased above control levels in UL-1 and Ema cells treated with PMA and the JNK inhibitor SP600125. However, ABCG2 gene expression was unaffected by U0126 exposure in CLBL-1 cells, in which activation of MAPK/ERK pathway was observed in non-treated cells. These results suggested that MAPK/ERK and JNK pathways downregulate ABCG2 gene expression, which is upregulated by unidentified but possibly PKC-dependent pathways, in several types of canine lymphoid tumor cells.

Association between the ABCG2 C421A polymorphism and Alzheimer's disease

ATP binding cassette subfamily G member 2 (ABCG2) is involved in amyloid-β transport and was found to be significantly up-regulated in Alzheimer's disease (AD) brain. A functional polymorphism of the ABCG2 gene (C421A; rs2231142) was genotyped in a sample of 299 Hungarian late-onset AD patients and 259 elderly, non-demented controls to investigate for the first time its association with AD, either alone or in combination with apolipoprotein E (APOE) ɛ2/ɛ3/ɛ4 polymorphism. A significantly increased susceptibility to AD (OR=1.741, 95% CI: 1.075–2.819, p=0.024) associated with ABCG2 C/C genotype was found when compared with the variant allele containing genotypes (CA and AA) as the reference category. Logistic regression analysis revealed a significant interaction effect between the ABCG2 C/C genotype and APOE ɛ4 allele on AD risk (p=0.003). It seems that the potential modest risk effect of the ABCG2 C/C genotype on AD risk is more pronounced in combination with the APOE ɛ4 allele. Further independent replications of our findings are required.

Phorbol Ester TPA Modulates Chemoresistance in the Drug Sensitive Breast Cancer Cell Line MCF-7 by Inducing Expression of Drug Efflux Transporter ABCG2

Recent studies have indicated a link between levels of cyclooxygenase-2 (COX-2) and development of the multidrug resistance (MDR) phenotype. The ATP-binding cassette sub-family G member 2 (ABCG2) is a major MDR-related transporter protein that is frequently overexpressed in cancer patients. In this study, we aimed to evaluate any positive correlation between COX-2 and ABCG2 gene expression using the COX-2 inducer 12-O-tetradecanoylphorbol-13-acetate (TPA) in human breast cancer cell lines. ABCG2 mRNA and protein expression was studied using real-time RT-PCR and flow cytometry, respectively. A significant increase of COX-2 mRNA expression (up to 11-fold by 4 h) was induced by TPA in MDA-MB-231 cells, this induction effect being lower in MCF-7 cells. TPA caused a considerable increase up to 9-fold in ABCG2 mRNA expression in parental MCF-7 cells, while it caused a small enhancement in ABCG2 expression up to 67 % by 4 h followed by a time-dependent decrease in ABCG2 mRNA expression in MDA-MB-231 cells. TPA treatment resulted in a slight increase of ABCG2 protein expression in MCF-7 cells, while a time-dependent decrease in ABCG2 protein expression was occurred in MDA-MB-231 cells. In conclusion, based on the observed effects of TPA in MDA-Mb-231 cells, it is proposed that TPA up-regulates ABCG2 expression in the drug sensitive MCF-7 breast cancer cell line through COX-2 unrelated pathways.

Functional expression and characterization in Xenopus laevis oocytes of the ABCG2 transporter derived from A549 human lung adenocarcinoma cells

We cloned the ATP-binding cassette sub-family G member 2 (ABCG2) transporter, the most recently identified among several major human multidrug-resistance pumps, from A549 human lung adenocarcinoma cells in order to characterize its function and substrate specificity. In a previous report, we confirmed that a stem cell-like side population of A549 cells highly expressed the ABCG2 gene and had a unique ability to resist the anticancer drug methotrexate (MTX). In this study, ABCG2 cDNA was cloned by RT-PCR and converted into cRNA by an invitro transcription system for expression in Xenopus laevis (X.laevis) oocytes. The transcribed cRNA of the ABCG2 gene was injected into the oocytes under the absence of cofactors or heterologous partner proteins or some lipids from the media. A high expression of ABCG2 was observed on the oocyte surface by immunofluorescence and confocal laser microscopy. We tested the functional effect of ABCG2 expression on drug efflux by directly injecting MTX into X.laevis oocytes. The drug concentration within the oocytes was quantified with LC-MS/MS; the analysis showed that the accumulation of MTX was significantly decreased in the X.laevis oocytes expressing ABCG2 compared with the control oocytes not expressing ABCG2. These findings show that the ABCG2 protein has an important role in the efflux of MTX through the cell membrane of X.laevis oocytes. Therefore, it might be that ABCG2, abundantly expressed in the stem cell population of A549 cells, can modulate resistance to MTX in lung cancer therapy.

Cytometry for improving and tailoring cancer therapy

IN cancer therapy, the detailed understanding of the effects of drugs on signal transduction pathways in the target cells is of pivotal relevance in tailoring individualized therapeutic approaches. Furthermore, also new and more detailed diagnostics help to specifically design a therapy for the individual patient. Nowadays, flow cytometry becomes a key player in these endeavors. A characteristic of ‘‘stemness’’ of normal and tumor (1) stem cells is their ability to express transporter molecules that function as transporters to exclude certain dye molecules such as the vital DNA dye HOECHST3342 in all stem-like cells. This phenomenon allows the identification of stem cells based on reduced HOECHST33342 staining intensity (HOECHST side-population) providing also a convenient method for their further enrichment. Responsible for this exclusion is the ATPbinding cassette subfamily G member 2 (ABCG2) (2). This is a membrane-associated protein that is in humans encoded by the ABCG2 gene, and is assigned the cluster of differentiation w338ABCG2 (CDw338). ABCG2 is in tumor therapy also responsible for the resistance to chemotherapeutic agents such as mitoxantrone and may thereby indirectly render tumor stem cell survival (1,2). Survival of normal stem cells and neoplastic cells has been associated with the sonic hedgehog (Hh) signal transduction pathway. Hh is essential in embryonic development throughout the animal kingdom and in vertebrates its dysfunction leads to the loss of the left–right symmetry with congenital disorders such as cyclopia (single eye). Such developmental effects can be induced during embryogenesis by cyclopamine (11-deoxojervine) a plant-derived alkaloid from the corn lily (Varatrum californicum) that acts as Hh pathway inhibitor. In addition, cyclopamibe leads to the reduction of the HOECHST side-population in various cancer cells. Consequently, cyclopamine is now tested on many human tumors that overexpress Hh as a potential new cancer therapeutic. The interrelation of the Hh signaling pathway with ABCG2 activity has so far, not been elucidated in further detail. Now, Balbuena and colleagues (this issue, page 672) from research institutes in Pamplona and Barcelona, Spain, addressed this question. They analyzed the effect of cyclopamine on cell lines expressing a low level of HOECHST sidepopulation and ABCG2 transporter overexpressing cell lines that consisted mostly of side-population cells. The observation indicates that Hh pathway activity is also regulated by ABCG2 activity leading to stem cell and tumor cell protection against natural and cancer agents. These studies have clear implications for new preclinical and clinical therapy concepts. For treatment of other tumor entities, other therapeutic approaches have to be applied. In breast cancer, the human epidermal growth factor receptor 2 (EGFR2) (Her2/neu, ErbB2) on the tumor cells membrane is therapeutically targeted by monoclonal antibodies to inhibit cell growth or induce apoptotic cell death. Different types of these receptors form homodimers or heterodimers such as EGFR/Her2 as can be revealed by flow cytomeric assays such as proximity in situ ligation (3). Unfortunately, in the clinical praxis only a subgroup of the breast cancer patients respond to treatment with the commonly used antibody, trastuzumab. Some respond inefficiently and others may not respond at all. The reason for this heterogeneity is still an open question and has been addressed by Diermeier-Daucher and colleagues (this issue, page 684) from the University of Regensburg in Germany. The authors approached the question whether other factors that induce growth stimulating effects may affect antibody therapy

Amplification created restriction sites for genotyping SNPs in the bovine ABCG2 and its association with milk production traits (Brief Report)

Abstract. ABCG2 (ATP-binding cassette, subfamily G, member 2) belongs to the superfamily of ATPbinding cassette (ABC) transporters. In ATP-dependent processes, ABCG2 is responsible for transporting xenobiotics and cytostatic drugs across various cellular membranes. The ABCG2 gene is expressed in the apical membrane of alveolar mammary epithelial cells and is responsible for the active secretion of substrates into mouse milk. Other members of the ABC subfamily G are sterol transporters. It therefore appears that ABCG2 might transport cholesterol into milk (COHEN-ZINDER et al. 2005). In the study by COHEN-ZINDER et al. (2005), several SNPs were detected in the ABCG2 gene but only two were genotyped – in exon 14 and in intron 3. In the case of SNP A/C in exon 14 resulting in an amino acid change Y581S, it was demonstrated that this substitution affects milk yield and composition. To detect theses polymorphisms in our study we used a new PCR-RFLP method based on an amplification created restriction site (ACRS). This method has been frequently used by various researchers in recent times (e.g. ZYCH et al. 2007). The aim of this study was to estimate the frequencies of genotypes and alleles and to investigate possible associations between ABCG2 polymorphisms and milk production traits in Jersey cows.