{"doi":"10.4103/ejh.ejh_159_25","title":"Association of Angiotensin-converting enzyme (ACE) genetic variants with nephropathy in sickle cell disease: evidence from an Egyptian cohort","abstract":"<jats:sec>\n                    <jats:title>Background</jats:title>\n                    <jats:p>Sickle cell disease (SCD) patients suffer nephropathy with acute decline in estimated glomerular filtration rate show higher mortality rates. Early identification of at-risk patients can enable efficient management. Sickle cell nephropathy (SCN) pathophysiology is multifactorial, with involvement of several genetic modifiers in its progression. Angiotensin-converting enzyme (ACE) gene variations have been linked to several conditions, including nephropathy.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Purpose</jats:title>\n                    <jats:p>This study aims to explore the potential association of ACE gene single-nucleotide variant (single nucleotide variant rs1800764) and insertion/deletion (rs4340) genetic variant with SCN in a cohort of Egyptian SCD patients.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and methods</jats:title>\n                    <jats:p>ACE (rs4340) and (rs1800764) genotyping was performed for 100 SCD patients and 100 healthy age-gender-matched volunteers as a control group using the PCR-restriction fragment length polymorphism technique.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Results</jats:title>\n                    <jats:p>\n                      ACE (rs1800764) polymorphic genotypes (TC and TT) were significantly more frequent among SCD patients compared with controls (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.005). The homomutant ACE genotype (TT) was significantly association with microalbuminuria (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.048) as well as loin pain (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.011). In the studied cohort, ACE (rs4340) variant shows no association with nephropathy risk. However, individuals with the I/D genotype had more frequent emergency admission compared with those with I/I (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.004) or D/D (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.047) genotypes. The genotype distribution of ACE (rs4340) in patients was similar to that observed in the control group.\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion</jats:title>\n                    <jats:p>\n                      The mutated ACE gene variant\n                      <jats:italic toggle=\"yes\">rs1800764</jats:italic>\n                      has been linked to SCN and may serve as a predictive genetic marker. Additionally, the\n                      <jats:italic toggle=\"yes\">rs4340</jats:italic>\n                      insertion/deletion (I/D) variant of the ACE gene has shown a significant association with emergency hospital admissions in SCD patients.\n                    </jats:p>\n                  </jats:sec>","journal":"The Egyptian Journal of Haematology","year":2026,"id":639430,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1661298,"name":"Mervat M. Khorshied","orcid":null,"position":1,"is_corresponding":false},{"id":1661299,"name":"Yasmin M.R. Eiswy","orcid":null,"position":2,"is_corresponding":false},{"id":1661300,"name":"Mohamed H. Ali","orcid":null,"position":3,"is_corresponding":false},{"id":1661301,"name":"Shirihan M.A. Mahgoub","orcid":null,"position":4,"is_corresponding":false},{"id":1661297,"name":"Mona K. El-Ghamrawy","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Association of Angiotensin-converting enzyme (ACE) genetic variants with nephropathy in sickle cell disease: evidence from an Egyptian cohort","abstract":"<jats:sec>\n                    <jats:title>Background</jats:title>\n                    <jats:p>Sickle cell disease (SCD) patients suffer nephropathy with acute decline in estimated glomerular filtration rate show higher mortality rates. Early identification of at-risk patients can enable efficient management. Sickle cell nephropathy (SCN) pathophysiology is multifactorial, with involvement of several genetic modifiers in its progression. Angiotensin-converting enzyme (ACE) gene variations have been linked to several conditions, including nephropathy.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Purpose</jats:title>\n                    <jats:p>This study aims to explore the potential association of ACE gene single-nucleotide variant (single nucleotide variant rs1800764) and insertion/deletion (rs4340) genetic variant with SCN in a cohort of Egyptian SCD patients.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and methods</jats:title>\n                    <jats:p>ACE (rs4340) and (rs1800764) genotyping was performed for 100 SCD patients and 100 healthy age-gender-matched volunteers as a control group using the PCR-restriction fragment length polymorphism technique.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Results</jats:title>\n                    <jats:p>\n                      ACE (rs1800764) polymorphic genotypes (TC and TT) were significantly more frequent among SCD patients compared with controls (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.005). The homomutant ACE genotype (TT) was significantly association with microalbuminuria (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.048) as well as loin pain (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.011). In the studied cohort, ACE (rs4340) variant shows no association with nephropathy risk. However, individuals with the I/D genotype had more frequent emergency admission compared with those with I/I (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.004) or D/D (\n                      <jats:italic toggle=\"yes\">P</jats:italic>\n                      =0.047) genotypes. The genotype distribution of ACE (rs4340) in patients was similar to that observed in the control group.\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion</jats:title>\n                    <jats:p>\n                      The mutated ACE gene variant\n                      <jats:italic toggle=\"yes\">rs1800764</jats:italic>\n                      has been linked to SCN and may serve as a predictive genetic marker. Additionally, the\n                      <jats:italic toggle=\"yes\">rs4340</jats:italic>\n                      insertion/deletion (I/D) variant of the ACE gene has shown a significant association with emergency hospital admissions in SCD patients.\n                    </jats:p>\n                  </jats:sec>","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"19767382","pmcid":null,"openalex_id":"https://openalex.org/W7140453386","authors":[],"funders":[],"total_grants":0,"fwci":0.0,"citation_percentile":0.33103567,"influential_citations":0,"citation_trend":[],"oa_status":"hybrid","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.4103/ejh.ejh_159_25","host_type":"journal"},{"url":"https://doi.org/10.4103/ejh.ejh_159_25","host_type":"publisher"},{"url":"https://journals.lww.com/10.4103/ejh.ejh_159_25","host_type":"publisher"}],"fields_of_study":["Hemoglobinopathies and Related Disorders","Renin-Angiotensin System Studies","Genomics and Rare Diseases"],"mesh_terms":[],"keywords":["Genotype","Nephropathy","Genotyping","Cohort","Single-nucleotide polymorphism","Gene","Disease","Microalbuminuria","Renal function"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-07T00:21:05.646918Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}