Association Of BACG-1, BACH-2, NRF-1 Copy Number Variation With BD And VKH Syndrome

Part 1 Association of the copy number variation of BACH-1, BACH-2 and NRF-1 with BDPurpose: To investigate the association of BACH-1, BACH-2 and NRF-1 copy number with BD in Chinese Han population.Methods: Three of CNVs including BACH-1, BACH-2 and NRF-1 were analyzed in 622 patients with BD and 1011 healthy controls in Chinese Han population. Copy number variations were determined by Taq Man real-time polymerase chain reaction(RT-PCR) and it was performed in 96-well optical plates on an Applied Bio-systems 7500 real-time PCR system following the manufacturer’s protocols. Taq Man assays labeled with FAM were used to detect BACH-1(Hs00679718-cn), BACH-2(Hs02007358-cn), and NRF-1(Hs00561070-cn), respectively. Taq Man RNase P assay labeled with VIC was used as an internal copy number reference(Applied Biosystems). To compare the differences between patients and controls, χ2 test(SPSS version 17.0) were applied to analyze the frequencies of CNVs.Results: The results showed that the frequency of >2 copies of BACH-1 has a strong association with BD in Chinese Han population. There was no association be detected between BACH-2 and NRF-1 copy number variations with BD.Conclusions: The result show that the frequency of >2 copies of BACH-1was significantly increased in patients with BD as compared to healthy controlsPart 2 Association of the copy number variation of BACH-1, BACH-2 and NRF-1 with VKH syndromePurpose: To investigate the association of BACH-1, BACH-2 and NRF-1 copy number with VKH in Chinese Han population.Methods: Three of CNVs including BACH-1, BACH-2 and NRF-1 were analyzed in 615 patients with VKH and 1011 healthy controls in Chinese Han population. Copy number variations were determined by Taq Man real-time polymerase chain reaction(RT-PCR) and it was performed in 96-well optical plates on an Applied Bio-systems 7500 real-time PCR system following the manufacturer’s protocols. Taq Man assays labeled with FAM were used to detect BACH-1(Hs00679718-cn), BACH-2(Hs02007358-cn), and NRF-1(Hs00561070-cn), respectively(Applied Biosystems). Taq Man RNase P assay labeled with VIC was used as an internal copy number reference(Applied Biosystems). To compare the differences between patients and controls, χ2 test(SPSS version 17.0) were applied to analyze the frequencies of CNVs.Results: The results showed that the copy number variation of BACH-1 has a strong association with VKH in Chinese Han population. There was no association be detected between BACH-2 and NRF-1 copy number variations with VKH.Conclusions: The result show that the frequency of >2 copies of BACH-1was significantly increased in patients with VKH as compared to healthy controls...