tailieunhanh - Haplotype of tex15 single nucleotide variants associated with male infertility in 401 Vietnamese individuals

This study aimed to assess the association of single nucleotide polymorphism (SNP) TEX15 rs323347 with male infertile individuals in a Vietnamese cohort and further analyze the haplotypes of TEX15 rs323346 and TEX15 rs323347. A total of 401 unrelated males, including 202 male infertility patients and 199 healthy controls were genotyped for TEX15 rs323347 using polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP). | ACADEMIA JOURNAL OF BIOLOGY 2024 46 1 13 19 DOI 2615-9023 17945 HAPLOTYPE OF TEX15 SINGLE NUCLEOTIDE VARIANTS ASSOCIATED WITH MALE INFERTILITY IN 401 VIETNAMESE INDIVIDUALS Nguyen Phuong Anh1 Bui Minh Duc1 Huynh Thi Thu Hue1 Nguyen Thuy Duong1 2 1 Institute of Genome Research Vietnam Academy of Science and Technology 18 Hoang Quoc Viet Ha Noi Vietnam 2 Graduate University Science and Technology Vietnam Academy of Science and Technology 18 Hoang Quoc Viet Ha Noi Vietnam Received 9 December 2022 accepted 6 March 2024 ABSTRACT Spermatogenesis is a process of cell differentiation to produce fertilized sperm. Testis-expressed 15 TEX15 an important gene in spermatogenesis has been reported to be linked with male infertility in various populations. This study aimed to assess the association of single nucleotide polymorphism SNP TEX15 rs323347 with male infertile individuals in a Vietnamese cohort and further analyze the haplotypes of TEX15 rs323346 and TEX15 rs323347. A total of 401 unrelated males including 202 male infertility patients and 199 healthy controls were genotyped for TEX15 rs323347 using polymerase chain reaction-restriction fragment length polymorphism PCR- RFLP . Using statistical methods the results showed that the allele frequencies of TEX15 rs323347 were in agreement with Hardy-Weinberg equilibrium HWE p-value gt but its genotype frequencies were not significantly different between male infertility patient and control groups p-values gt . However the CA haplotype of the two variants rs323346 and rs323347 increased the risk of male infertility p OR 95 CI . Thus this study would enrich the knowledge of the impact of genetic factors on male infertility in the Vietnamese population. Keywords Haplotype male infertility PCR-RFLP rs323347 TEX15 Vietnamese. Citation Nguyen Phuong Anh Bui Minh Duc Huynh Thi Thu Hue Nguyen Thuy Duong 2024. Haplotype of TEX15 single nucleotide variants associated with male infertility in