• PMID: 15696470
• Gene Name: FKBP6
• Condition: Idiopathic azoospermia
• Association: Associated
• Mutation: FKBP6 (278A polymorphism, C/T, 370G/A, 430G/C, 467T/C, 468G/A )
• Population size: 408
• Population details: 408 (177 azoospermia patients, 231 control individuals)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: FKBP6
• Other associated phenotypes: Idiopathic azoospermia

[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia]

Zhang W, Zhang SZ, Xiao CY, Yang Y, Ma YX, Cheng L, A ZC, He GP, Shi JJ.

OBJECTIVE: To investigate 2 polymorphism sites in exon 3 and intron 2 of FKBP6 in Chinese population, while screening the gene mutations and polymorphisms in exons 3, 4 of FKBP6, and the association of these polymorphisms with azoospermia. METHODS: Possible variations of exons 3, 4 and genotypes and frequencies of 2 polymorphic loci were examined by denaturing high-performance liquid chromatography(DHPLC) and PCR-restriction fragment length polymorphism(PCR-RFLP) technique in 177 azoospermia patients and 231 control individuals. RESULTS: The observed allele frequencies conformed well to Hardy-Weinberg equilibrium. The frequency of 278A allele was significantly higher in controls than that in patients (P<0.05). C/T(s7797242) polymorphism was not found in either group and variations in exons 3, 4 were not detected. CONCLUSION: 278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population. FAU - Zhang, Wei AU - Zhang W AD - Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041 PR China. FAU - Zhang, Si-zhong AU - Zhang SZ FAU - Xiao, Cui-ying AU - Xiao CY FAU - Yang, Yuan AU - Yang Y FAU - Ma, Yong-xin AU - Ma YX FAU - Cheng, Li AU - Cheng L FAU - A, Zhou-cun AU - A ZC FAU - He, Guo-ping AU - He GP