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Correction (Vibeke Andersen, 08 July 2013)

Information on smoking status at study entry was collected for 101 Danish UC patients and for 68 Danish CD patients. For the remaining CD and UC patients information on smoking status at the time of diagnosis was collected. read full comment

Comment on: Andersen et al. BMC Medical Genetics, 11:82

Clarification needed (Dan T.A. Eisenberg, 19 February 2013)

In a scientific literature which is dominated by studies of peoples of western European descent (Bustamante and others, 2011; Henrich and others, 2010), the work of Al-Attas et al to better understand the diversity of human biology and genetics is particularly valuable. However, reading Al-Attas and colleagues manuscript leaves several questions and points of confusion for me which make it hard to contextualize it within the broader literature on telomere... read full comment

Comment on: Al-Attas et al. BMC Medical Genetics, 13:38

Mistake detected in our article (María Piedra, 14 January 2013)

We have detected a mistake in the Methods section of our article. In the study of the 245 T/G SNP of the OPG where we wrote "rs3134070" we must have written " rs3134069". We want to apologize for any inconvenience we have caused to any person who have read our paper. read full comment

Comment on: Piedra et al. BMC Medical Genetics, 12:168

Note while in press (Anat Erdreich-Epstein, 25 April 2012)

While this manuscript was in press, a paper was published by Reiter et al (Eur J Oral Sci. 2012, 120(2):97-103. doi: 10.1111) in which they found that patients with submucous cleft palate had  increased allele frequency at SNP rs5752638 of the gene MN1 compared to control individuals. This further supports a possible role for MN1 in cleft palate biology. read full comment

Comment on: Davidson et al. BMC Medical Genetics, 13:19

Error of the nomenclature of the mutation described by Nordling et al. (Daniele MULLER, 03 November 2011)

The name of the mutation described by Nordling et al.,1998 (Ref 13) should be (p.Ser93Glu106delinsPro) instead of (p.Ser98Glu106delinsPro). read full comment

Comment on: Muller et al. BMC Medical Genetics, 12:121

Approximate *-derivations and approximate quadratic *-derivations on C*-algebras (Choonkil Park, 18 October 2011)

(1) Between B.4.39 and B.4.40,
the following should be added
\begin{eqnarray}
\| f(a^*)-f(a)^*\| \le 4\varepsilon \|a\|^p
\end{eqnarray}
(*this one produces the equation (4.6))

(2) In B.4.40, `unique derivation' should be replaced by `unique quadartic $*$-derivation'

(3) In B.4.51, `satisfying (4.5) -- unique derivation' should be replaced by `satisfying (4.5) and (4.6) -- unique quadratic $*$-derivation' read full comment

Comment on: Yunxia et al. BMC Medical Genetics, 11:34

Previous studies of ABCB1 and CYP2C19 polymorphisms in Brazilians (Guilherme Suarez-Kurtz, 18 October 2011)

Santos et al. [1] reported the distribution of CYP2C19 and ABCB1 polymorphisms in Brazilians, and discussed their results with respect to European, Asian and African populations, but made no reference to previously published studies in the Brazilian population. This is particularly disconcerting in the case of the ABCB1 3435C>T SNP, since this polymorphism was first studied in Brazilians in 2002 [2]! Several subsequent articles, listed in PubMed and in the internet site of Refargen, the Brazilian Pharmacogenetics Network (http://www.refargen.org.br/gene.asp?ident=1), examined the frequency of the 3435C>T and other ABCB1 SNPs (e.g. 1236C>T and 2677G>T/A) and haplotypes in different strata of the Brazilian population [3 - 5]. The results of Santos et al. [1] for ABCB1 3435C>T... read full comment

Comment on: Santos et al. BMC Medical Genetics, 12:13

gene symbol mistypied (Dajun Deng, 09 June 2011)

The gene symbol "CDNK2A" on the title should be "CDKN2A". read full comment

Comment on: Zhou et al. BMC Medical Genetics, 12:67

minor correction (Nobuaki Wakamatsu, 14 January 2011)

1)"Thiamin Transport Assay" in "Methods".
"Balasubramaniem et al. [15]" should be "Ashokkumar et al. [15]"

2)Reference
8. "Am J Physiol Renal Physiol 2006, 291:851-859" should be "Am J Physiol Cell Physiol 2006, 291:C851-859"
15. "Balasubramaniem A, Nosratola D, Said HM" should be "Ashokkumar B, Vaziri ND, Said HM." "291:796-805." should be "291:F796-805." read full comment

Comment on: Yamada et al. BMC Medical Genetics, 11:171

Bibliography update (Armando Reyes-Engel, 22 March 2010)

We believe this is a very interesting article on a topic of research in which we are involved especially. As it is mentioned in the history of this publication there are very few articles published about this issue (one review and 5 original papers), and should not pose any problem to update the bibliography in this area. I am sending this letter to remark that our team published the first article, about this subject in The Lancet in 1998 whose title must not be overlooked, in any search, since it includes the words Genetic Selection and folate, and a second article in which the design is similar to this one because we refer to distribute the population into four cohorts and that also includes the term of genetic selection with the MTHFR gene polymorphism in the title. No other interest... read full comment

Comment on: Jennings et al. BMC Medical Genetics, 11:18

Reply to : Correct use of the Manchester scoring system (Louise Bordeleau, 05 May 2009)

We greatly appreciate the feedback provided by Dr. Evans on the correct use of the Manchester scoring system. We have since recalculated the combined scores of the Manchester Model using the correct scoring system. The AUC of the Manchester Model using the updated calculation is 0.73 (0.64-0.79); low risk subset 0.67 (0.50-0.80) and high risk subset 0.75 (0.65-0.83) [Table 4]. At the conventional testing threshold of 15, both the sensitivity and specificity of the Manchester Model are 0.66 [Table 5]. The performance of the Manchester Model is therefore similar to the performances observed with other models used in our analyses including the BRCAPRO, PennII, Myriad II, FHAT and BOADICEA.
The clarification in the use of the model deserves to be noted as it can affect the performance... read full comment

Comment on: Panchal et al. BMC Medical Genetics, 9:116

Correct use of the Manchester scoring system (D Gareth Evans, 17 April 2009)

Panchal et al have published an interesting paper using risk models to calculate the likelihood of carrying a BRCA1 or BRCA2 mutation in 200 non-BRCA carriers and 100 BRCA carriers, consecutively tested between August 1995 and March 2006. We believe they may not have correctly used the Manchester combined score as the sensitivity for the BRCA1 and BRCA2 independant scores is good but the combined score is not. Correct use of the Manchester combined score should add ALL of the points from both the BRCA1 and BRCA2 score without taking into account prior testing. In other words an ovarian cancer should score 5 points for BRCA2 and a male breast cancer 5 points for BRCA1 regardless of the outcome of testing as published in our update paper [1]. We urge Panchal et al to recalculate the combined... read full comment

Comment on: Panchal et al. BMC Medical Genetics, 9:116

Human genetic selection for the MTHFR 677>T polymorphism: A leap in the dark (María Luisa Martínez-Frías, 19 February 2009)


Letter to the Editor

Human genetic selection for the MTHFR 677>T polymorphism: A leap in the dark


Martínez-Frías ML1-3& Bermejo E1,2,4 Rodríguez-Pinilla E1,2, and ECEMC Working Group5

1ECEMC, Centro de Investigación de Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación, Madrid, Spain.
2 CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación, Madrid, Spain.
3 Dpto. Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
4 Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III. Ministerio de Ciencia e Innovación, Madrid, Spain.... read full comment

Comment on: Mayor-Olea et al. BMC Medical Genetics, 9:104

Comment on Prasad et al. 2007 (Bhaskar Lakkakula, 09 November 2007)

Abstract is well written and reflecting the minute details of the entire article except the total no of samples.Introduction was mainly concentrated on candidate genes used in the present study and their implication in the predisposition of glomerulosclerosis and fibrosis in progressive diabetic kidney diseases. The authors never mentioned about diabetic retinopathy.Methods section clearly indicating that the authors recruited, 192 diabetic subjects with urinary albumin excretion rate (AER) > 200 mg/l as cases and 225 individuals with type-2 diabetes with Normoalbuminuric (AER<20mg/l) as controls. But at the end of this section the authors referring diabetic retinopathy.The authors selected 9 SNPs that were reported earlierTGFB1 (19q13.2)TGFB1 (-800 Ato G, rs1800468)TGFB1 (-509 C to... read full comment

Comment on: Prasad et al. BMC Medical Genetics, 8:20

erroneous citing (Piotr Kusnierczyk, 22 March 2007)

Dear Editor, In a recently published article in the BMC Medical Genetics (2007, 8:3) Sofia Mayans and colleagues definitely prove a lack of association between CTLA-4 gene CT60 single nucleotide polymorphism (SNP) and serum level of soluble CTLA-4 (sCTLA-4). This is an interesting and valuable paper. However, in the Discussion, the Authors say that their results "are supported by data from Anjos et al.(2002) who also found no effect of the CT60 polymorphism on the expression of sCTLA-4". In the matter of fact, Anjos et al. did not study CT60 at all, but only +49A>G SNP. In contrast, the lack of effect of CT60 on sCTLA-4 serum levels was described earlier by Purohit et al (2005) who is cited by Mayans et al., but only for the lack of association of the sCTLA-4 level with type 1... read full comment

Comment on: Mayans et al. BMC Medical Genetics, 8:3

Human obesity and glucocorticoid receptor polymorphisms (Akheel Ahmed Syed, 01 September 2006)

We read the paper by Marti et al [1] with great interest and offer the following comments. The allele frequency of the N363S polymorphism of the glucocorticoid receptor gene (GRL) in people of south Asian origin living in north-east England was 0.3% [2], not 0.7% as quoted by Marti et al. Interestingly, this polymorphism was not detected in a study involving 265 Japanese subjects [3]. Thus, in contrast to its higher frequency in people of European origin, the N363S polymorphism appears to occur very infrequently in Asians. Apart from ethnic differences, other polymorphisms with opposing effects may have influenced the results of the meta-analysis by Marti et al. For instance, the A3669G polymorphism in exon 9beta of GRL, which occurs at greater frequency (17%) than N363S, is associated with... read full comment

Comment on: Marti et al. BMC Medical Genetics, 7:50

Genetics and biology of migraine: how far are we from the truth? (Vinod Gupta, 04 April 2006)

Curtain et al. found no evidence of length variations of the second polyglutamine array in the N-terminus of the KCNN3 channel between Caucasian migraine patients and controls. [1] Migraine research efforts are based on a long, extremely tenuous chain of poorly-linked assumptions about the related basic sciences. [2,3,4,5] The assumption that KCNN3 plays a critical role in migraine pathogenesis by determining the firing pattern of brain neurons is, in the first instance, another such research premise. To make sense of genetic analyses in any medical entity, a certain minimum quantum of biological comprehension of the illness is mandatory. The biology of any illness is not what is recorded in the laboratory – pathological or radiological – but the elucidation of physiological... read full comment

Comment on: Curtain et al. BMC Medical Genetics, 6:32

Apolipoprotein E allele frequency is different in various populations with coronary artery disease and healthy subjects (Genovefa Kolovou, 10 February 2004)

Apolipoprotein E allele frequency is different in various populations with coronary artery disease and healthy subjectsGenovefa D. Kolovou1 MD, Associate DirectorKatherine K. Anagnostopoulou1 MSc Research AssociateNikos Yiannakouris2 PhD, Research AssociateDennis V. Cokkinos1 MD, Professor of Cardiology, Athens University Medical School, Director.1Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece2Harokopio University, Athens, GreeceShort Title: Apolipoprotein E allele frequencyCorresponding authorGenovefa D. Kolovou, MD, PhD, FESCOnassis Cardiac Surgery Center356 Sygrou Ave, 176 74 Athens, GreeceTel: +30 210 9493520, Fax: +30 210 9493336E-mail: Genkolovou@mail.gr We have read with great interest the article of Baroni M and colleagues (1) describing association of... read full comment

Comment on: Baroni et al. BMC Medical Genetics, 4:8