Correlación entre el polimorfismo de los genes LHCGR y NR5A1y el riesgo de infertilidad masculina / Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk

Introducción La infertilidad constituye un problema de salud que afecta gravemente la reproducción humana. En el caso de la infertilidad masculina, la mayoría de los casos se deben a factores genéticos. En este estudio nos propusimos realizar un análisis de correlación entre la infertilidad masculina idiopática y el polimorfismo de un solo nucleótido (SNP, por Single Nucleotide Polymorphism) de los genes LHCGR (rs2293275) y NR5A1 (rs1057517779) en la población azerí de Irán. Métodos En este estudio de casos y controles participaron 100 varones infértiles y 100 varones sanos procedentes de la población azerí iraní. La genotipificación se realizó mediante el aislamiento del ADN genómico a partir de muestras de sangre total con el sistema de amplificación por reacción en cadena de la polimerasa refractario a mutaciones Tetra-primer (Tetra-ARMS-PCR). El análisis de los datos se llevó a cabo mediante la prueba de Chi-cuadrado (χ2) y la prueba exacta de Fisher. Resultados Según el análisis de genotipificación del polimorfismo LHCGR (rs2293275), la frecuencia del alelo C en el grupo de casos era significativamente mayor que en el grupo de control (p<0,05). El análisis del polimorfismo NR5A1 (rs1057517779) indicó que la frecuencia del alelo A y del genotipo heterocigoto GA en el grupo de casos era significativamente superior a la del grupo de control (p<0,05). Conclusión Nuestro estudio demostró que los SNP de los genes LHCGR (rs2293275) y NR5A1 (rs1057517779) pueden desempeñar un papel crucial en la infertilidad masculina de la población azerí en Irán. Sin embargo, se requieren más estudios realizados en otros orígenes étnicos con muestras de mayor tamaño para obtener resultados más precisos. Además, podrían ser necesarios experimentos funcionales para comprender el papel de estos polimorfismos en las vías moleculares implicadas en la fertilidad masculina. (AU)

Introduction Infertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population. Methods This case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by Chi-square (χ2) and Fisher's exact tests. Results Genotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P<.05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P<.05). Conclusion Our study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility. (AU)

Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.

INTRODUCTION: Infertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population. METHODS: This case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by chi-square (χ2) and Fisher's exact tests. RESULTS: Genotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P < .05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P < .05). CONCLUSION: Our study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility.