Reviewer's report
Title:Combined effect of regulatory polymorphisms on transcription of UGT1A1
as a cause of Gilbert syndrome
Version: 3Date:14 April 2010
Reviewer: Rene HM te Morsche
Reviewer's report:
In the report by Katsuyuki Matsui and coworkers the promoter region of a number
of Japanese and Caucasian patients were sequenced. Using the most common
haplotypes they constructed luciferase containing plasmids to reveal how much
each haplotype contributes to the transcripion of UGT1A1. This report gives
interesting information about what regions of the promoter are important and how
they influence the transcription of UGT1A1.
The answers given by the authors on the previous report are satisfactory.
Discretionary revisions
Discussion:
"Our results also match......Gilbert syndrome (found in 3-10% of the population)"
The authors use alele frequencies in this sentence which makes the difference
between this frequency and the Gilbert syndrome frequency appear bigger than it
really is. It would be more appropriate to use the genotype frequency of the
homozygous A(TA)7TAA so these numbers can be seen a a better perspective.
Also lifestyle plays an important role whether patients phenotypically present with
Gilbert syndrome and thus patients having homozygous A(TA)7TAA do always
present the syndrome.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests.
Reviewer's report
Title:Combined effect of regulatory polymorphisms on transcription of UGT1A1
as a cause of Gilbert syndrome
Version: 3Date:14 April 2010
Reviewer: Rene HM te Morsche
Reviewer's report:
In the report by Katsuyuki Matsui and coworkers the promoter region of a number
of Japanese and Caucasian patients were sequenced. Using the most common
haplotypes they constructed luciferase containing plasmids to reveal how much
each haplotype contributes to the transcripion of UGT1A1. This report gives
interesting information about what regions of the promoter are important and how
they influence the transcription of UGT1A1.
The answers given by the authors on the previous report are satisfactory.
Discretionary revisions
Discussion:
"Our results also match......Gilbert syndrome (found in 3-10% of the population)"
The authors use alele frequencies in this sentence which makes the difference
between this frequency and the Gilbert syndrome frequency appear bigger than it
really is. It would be more appropriate to use the genotype frequency of the
homozygous A(TA)7TAA so these numbers can be seen a a better perspective.
Also lifestyle plays an important role whether patients phenotypically present with
Gilbert syndrome and thus patients having homozygous A(TA)7TAA do always
present the syndrome.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests.
Please review this paper.
user
Reviewer's report
Title:Combined effect of regulatory polymorphisms on transcription of UGT1A1
as a cause of Gilbert syndrome
Version: 3Date:14 April 2010
Reviewer: Rene HM te Morsche
Reviewer's report:
In the report by Katsuyuki Matsui and coworkers the promoter region of a number
of Japanese and Caucasian patients were sequenced. Using the most common
haplotypes they constructed luciferase containing plasmids to reveal how much
each haplotype contributes to the transcripion of UGT1A1. This report gives
interesting information about what regions of the promoter are important and how
they influence the transcription of UGT1A1.
The answers given by the authors on the previous report are satisfactory.
Discretionary revisions
Discussion:
"Our results also match......Gilbert syndrome (found in 3-10% of the population)"
The authors use alele frequencies in this sentence which makes the difference
between this frequency and the Gilbert syndrome frequency appear bigger than it
really is. It would be more appropriate to use the genotype frequency of the
homozygous A(TA)7TAA so these numbers can be seen a a better perspective.
Also lifestyle plays an important role whether patients phenotypically present with
Gilbert syndrome and thus patients having homozygous A(TA)7TAA do always
present the syndrome.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests.
assistant