Association between polymorphism rs2032487 in the non-muscle myosin heavy chain IIA gene (MHY9) and chronic kidney disease secondary to type 2 diabetes mellitus in a population of the Canary Islands

Boronat, Mauro; Tugores, Antonio; Saavedra, Pedro; Garay, Paloma; Bosch, Esperanza; Lorenzo, Dionisio; García-Cantón, César

doi:10.1016/j.endien.2019.01.009

Cited by 3 publications

(4 citation statements)

References 28 publications

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“…Although the epidemiology of CKD in Africa is well elucidated to some extent [21], current evidence has uncovered new approaches to understanding the pathogenesis of CKD [11]. MYH9-rs3752462 polymorphism by far has produced an impressive association with CKD among diabetics [14], Lupus Nephritis [15], and non-diabetic population [16,17]. However, there is an extreme limitation of data on SNP of MYH9-rs3752462 associated CKD in the Ghana population.…”

Section: Discussionmentioning

confidence: 99%

“…The importance of the MYH9 polymorphisms in the context of CKD is that there is enough evidence in the literature of being a causal variant for CKD in diabetics [14], Lupus Nephritis [15], and non-diabetic population [16,17]. Aside from the major translational benefits of finding genetic risk variants associated with CKD, they are also likely novel therapeutic targets and also enhance our understanding of disease pathogenesis.…”

Section: Introductionmentioning

confidence: 99%

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Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population

et al. 2020

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Background Chronic kidney disease (CKD) is a significant comorbidity among hypertensive patients. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) have been demonstrated to be significantly associated with CKD, among African- and European-derived populations. We investigated the spectrum of MYH9-associated CKD among Ghanaian hypertensive patients. Methods The study constituted a total of 264 hypertensive patients. Hypertensive patients with glomerular filtration rate (eGFR) < 60 ml/min/1.73m 2 (CKD-EPI formula) or clinically diagnosed were defined as case subjects ( n = 132) while those with eGFR ≥60 ml/min/1.73m 2 were classified as control subjects ( n = 132). Demographic data were obtained with a questionnaire and anthropometric measurements were taken. Five (5) millilitres (ml) of venous blood was drawn from study subjects into gel and EDTA vacutainer tubes. Two (2) mL of EDTA anticoagulated blood was used for genomic DNA extraction while three (3) mL of blood was processed to obtain serum for biochemical measurements. Genotyping of MYH9 polymorphisms (rs3752462) was done employing Tetra primer Amplification Refractory Mutation System (T-ARMS) polymerase chain reaction (PCR). Spot urine samples were also collected for urinalysis. Hardy-Weinberg population was assessed. Logistic regression models were used to assess the associations between single nucleotide polymorphisms and CKD. Results The cases and control participants differed in terms of age, sex, family history, and duration of CKD ( p -value < 0.001). The minor allele frequencies of rs3752462 SNP were 0.820 and 0.567 respectively among the control and case subjects. Patients with the heterozygote genotype of rs3752462 (CT) were more likely to develop CKD [aOR = 7.82 (3.81–16.04)] whereas those with homozygote recessive variant (TT) were protective [aOR = 0.12 (0.06–0.25)]. Single nucleotide polymorphism of rs3752462 (CT genotype) was associated with increased proteinuria, albuminuria, and reduced eGFR. Conclusions We have demonstrated that MYH9 polymorphisms exist among Ghanaian hypertensive patients and rs3752462 polymorphism of MYH9 is associated with CKD. This baseline indicates that further longitudinal and multi-institutional studies in larger cohorts in Ghana are warranted to evaluate MYH9 SNP as an independent predictor of CKD among hypertensive patients in Ghana.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population

et al. 2020

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“…Em outro estudo de fatores genéticos associados ao MDT2, associa, intermediariamente, o polimorfismo do gene FTO rs3751812 como um fator para patogênese do diabetes mellitus tipo 2, logo foi observado que para cada cópia extra do alelo que corresponde ao grau de risco (grFTO rs375181) deste gene polimórfico, houve um aumento significativo e importante da adiposidade no corpo dentre os 409 indivíduos estudados, que sucedeu em ganho de 3,88kg a mais no seu peso corporal e ganho de massa gorda. Por mais que o ganho de massa gorda tenha sido o principal dado observado, ainda houve a associação deste alelo de risco com a resistência insulínica e resistência a leptina, o que além disto ainda tem-se a obesidade como um dos fatores chave no desenvolvimento do DM2 na população chilena (Boronat et al, 2019).…”

Section: Fatores Genéticosunclassified

Fatores ambientais e genéticos associados no desenvolvimento de Diabetes mellitus tipo 2: revisão sistemática

Mendonça

Moura

Araújo

et al. 2022

RSD

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O Diabetes mellitus tipo 2 é a uma na qual a quantidade de insulina é incapaz de suprir a oferta de glicose, é uma das doenças que acomete pessoas no mundo. Os Fatores de desenvolvimentos das mesmas são fatores ambientais, e fatores genéticos, ambos podem ser retardados se as pessoas se submetam à um estilo de vida saudável. O objetivo principal do trabalho é buscar compreender e descrever os fatores ambientais e genéticos no DM2. Se trata de uma revisão sistemática de artigos publicados de 2012 à 2022 escritos em português, espanhol e inglês. Os critérios de exclusão foram: artigos publicados antes de 2015, que não sejam escritos em português, espanhol e inglês e que não tenham informações relativos ao DM2. Foram selecionados 19 artigos para este estudo, apenas 10 foram incluídos e 9 sustentaram os argumentos sugeridos pelos principais. Foram descritos como fatores ambientais: obesidade, hábitos alimentares ruins, sedentarismo, doenças cardiovasculares, tuberculose e hipertensão. Fatores genéticos: Polimorfismo dos genes XRCC3 T241M, XRCC1 399Gln e FTO rs3751812 e danos genéticos às células β-pancreáticas. Pode-se concluir que a base da patogênese do DMT2 são advindos de maus hábitos e sedentarismo e doenças de base, fatores que são facilmente prevenidos com mudanças na qualidade de vida, hábitos alimentares melhores e a prática de exercícios físicos. Já os demais fatores como os genéticos, a descoberta deles podem sugerir um estilo do qual venha retardar o acometimento do DMT2.

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“…These findings suggest a role for MYH9 loss in acquired kidney disease and may explain cases of accelerated CKD progression in patients with MYH9-RD, likely triggered by activation of the renin-angiotensin system (RAS) or other modulators of MYH9 expression. In this regard, the MYH9 rs2032487 single nucleotide polymorphism (SNP) (but not APOL1 variants) has been associated with advanced CKD related to Type 2 diabetes mellitus in the Canary Islands, the Spanish region with the highest prevalence of diabetic kidney disease [33], and the rs3752462 SNP to an increased risk of diabetic kidney disease in Chinese Han individuals [34], reproducing prior SNP associations in other non-African populations (reviewed in Pecci et al [2]).…”

Section: Is There a Role For Myh9 In Acquired Kidney Disease?mentioning

confidence: 99%

MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy

Fernández-Prado

Carriazo‐Julio

Torrá

et al. 2019

Clinical Kidney Journal

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In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. The population frequency of pathogenic MYH9 mutations may be at least 1 in 20 000. The literature abounds in misdiagnosed cases treated for idiopathic thrombocytopenic purpura with immune suppressants and even splenectomy. Additional manifestations include neurosensorial deafness and proteinuric and hematuric progressive kidney disease (at some point, it was called Alport syndrome with macrothrombocytopenia), leucocyte inclusions, cataracts and liver enzyme abnormalities, resulting in different names for different manifestation combinations (MATINS, May–Hegglin anomaly, Fechtner, Epstein and Sebastian syndromes, and deafness AD 17). The penetrance and severity of kidney disease are very variable, which may obscure the autosomal dominant inheritance. A correct diagnosis will both preclude unnecessary and potentially dangerous therapeutic interventions and allow genetic counselling and adequate treatment. Morphological erythrocyte, granulocyte and platelet abnormalities may allow the future development of high-throughput screening techniques adapted to clinical peripheral blood flow cytometers.

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Association between polymorphism rs2032487 in the non-muscle myosin heavy chain IIA gene (MHY9) and chronic kidney disease secondary to type 2 diabetes mellitus in a population of the Canary Islands

Cited by 3 publications

References 28 publications

Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population

Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population

Fatores ambientais e genéticos associados no desenvolvimento de Diabetes mellitus tipo 2: revisão sistemática

MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy

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