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MTHFR-c 677C>T polymorphism and male infertility: An analysis in a cohort of Pakistani men / Polimorfismo MTHFR-c 677C>T e infertilidad masculina: un análisis en una cohorte de hombres pakistaníes
Fatima, Tasneem; Afzal, Usman; Shaharyar, Saeeda; Khan, Shagufta; Ashraf, Mussarat; Rafaqat, Wardah; Kayani, Muhammad Rohan; Rehman, Rehana.
Afiliação
  • Fatima, Tasneem; Department of Biological & Biomedical Sciences Aga Khan University. Karachi. Pakistan
  • Afzal, Usman; Medical College Aga Khan University. Karachi. Pakistan
  • Shaharyar, Saeeda; Department of Biological & Biomedical Sciences Aga Khan University. Karachi. Pakistan
  • Khan, Shagufta; Department of Biological & Biomedical Sciences Aga Khan University. Karachi. Pakistan
  • Ashraf, Mussarat; Department of Biological & Biomedical Sciences Aga Khan University. Karachi. Pakistan
  • Rafaqat, Wardah; Medical College Aga Khan University. Karachi. Pakistan
  • Kayani, Muhammad Rohan; Medical College Aga Khan University. Karachi. Pakistan
  • Rehman, Rehana; Department of Biological & Biomedical Sciences Aga Khan University. Karachi. Pakistan
Rev. int. androl. (Internet) ; 20(4): 274-280, oct.-dic. 2022. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-210768
Biblioteca responsável: ES1.1
Localização: ES15.1 - BNCS
ABSTRACT

Objective:

To analyze existence of an association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with male infertility. Materials and

methods:

A case–control study was conducted from June 2017 to August 2018 in which 88 infertile and 40 fertile were recruited. Polymerase chain reaction (PCR) – restriction fragment length polymorphism (RFLP) assay was carried out to study the allelic frequency of C677T polymorphism. The differences in allelic and genotypic frequencies of C677T locus between fertile and infertile groups were evaluated by the Pearson chisquare test. A logistic regression model was used to calculate Odds ratios and 95% confidence intervals, p value<0.05 was considered significant. The Hardy–Weinberg equilibrium was tested using HWE software.

Results:

In infertile subjects, frequency distribution of CC allele was (60.2%), the CT allele was (30.7%) the TT allele was (9.1%) and in the fertile controls the frequency was CC allele (75%), CT allele (20%) and TT allele (5%) respectively. Analysis revealed MTHFR 677 CC genotype associated significantly with male infertility (p<.046, OR=2.385; 95% CI=1.014–5.608); Frequency of CT (30.7%) and TT (9.1) genotypes were higher in infertile men as compared to CT (20%) TT (5%) in fertile controls but statistically these were not significantly different (p=0.097; OR=0.455; CI=0.179–1.153 and p=0.431; OR=0.526; CI=0.107–2.599 respectively). Significant association of age and BMI with MTHFR genotypes and infertility was observed.

Conclusion:

Our results showed that MTHFR C677T polymorphism is not a risk factor for male infertility in our Pakistani population. (AU)
RESUMEN

Objetivo:

Observar el efecto del polimorfismo C677T en metilenetetrahidrofolato reductasa (MTHFR) en la infertilidad masculina. Materiales y

métodos:

Se realizó un estudio de casos y controles desde junio de 2017 hasta agosto de 2018 en el que se reclutaron 88 infértiles y 40 fértiles. Se llevó a cabo el ensayo reacción en cadena de la polimerasa (PCR) - polimorfismo de longitud de fragmento de restricción (RFLP) para estudiar la frecuencia alélica del polimorfismo C677T. La prueba de chi-cuadrado de Pearson se utilizó para estimar las diferencias en las frecuencias alélicas y genotípicas del locus C677T entre fértiles e infértiles. Los cocientes de probabilidad se obtuvieron mediante el análisis de regresión logística con intervalos de confianza del 95%, siendo significativo un valor de p<0,05. Se aplicó el equilibrio Hardy-Weinberg (HWE).

Resultados:

En sujetos infértiles, la distribución de frecuencia del alelo CC fue del 60,2%, la del alelo CT, del 30,7%, la del alelo TT, del 9,1%, y en los controles fértiles la frecuencia fue alelo CC fue del 75%, la del alelo CT, del 20%, y la del alelo TT, del 5%, respectivamente. El análisis reveló el genotipo CC MTHFR 677 asociado significativamente con infertilidad en los hombres (p<0,046, OR=2,385; IC95% 1,014-5,608). La frecuencia de los genotipos CT (30,7%) y TT (9,1) fue mayor en hombres infértiles en comparación con CT (20%) y TT (5%) en controles fértiles, pero estadísticamente estos no fueron significativamente diferentes (p=0,097, OR=0,455; IC95% 0,179-1,153, y p=0,431, OR=0,526; IC95% 0,107-2,599, respectivamente). Se observó asociación significativa de edad e IMC con genotipos MTHFR e infertilidad.

Conclusión:

Nuestros resultados mostraron que el polimorfismo MTHFR C677T no está asociado con la infertilidad por factor masculino en nuestra población pakistaní. (AU)
Assuntos

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Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Polimorfismo Genético / Metilenotetra-Hidrofolato Redutase (NADPH2) / Infertilidade Limite: Adulto / Idoso / Humanos / Masculino País/Região como assunto: Ásia Idioma: Inglês Revista: Rev. int. androl. (Internet) Ano de publicação: 2022 Tipo de documento: Artigo Instituição/País de afiliação: Department of Biological & Biomedical Sciences Aga Khan University/Pakistan / Medical College Aga Khan University/Pakistan
Buscar no Google
Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Polimorfismo Genético / Metilenotetra-Hidrofolato Redutase (NADPH2) / Infertilidade Limite: Adulto / Idoso / Humanos / Masculino País/Região como assunto: Ásia Idioma: Inglês Revista: Rev. int. androl. (Internet) Ano de publicação: 2022 Tipo de documento: Artigo Instituição/País de afiliação: Department of Biological & Biomedical Sciences Aga Khan University/Pakistan / Medical College Aga Khan University/Pakistan
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