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Re: “Widespread prevalence of a CREBRF variant among Māori and Pacific children is associated with weight and height in early childhood”

International Journal of Obesity volume 42, pages 1389–1391 (2018)Cite this article

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Dear Editor: Your journal recently published the article “Widespread prevalence of a CREBRF variant amongst Māori and Pacific children is associated with weight and height in early childhood” [1]. The minor A-allele of the CREBRF rs373863828 variant (p.Arg457Gln) was analyzed in a pooled sample of New Zealand (NZ) children of maternally self-reported Māori, Pacific, European, or Asian ethnicity. Berry et al. [1] reported A-allele frequencies of 1.5% (European) and 1.1% (Asian). Other studies report that the A-allele has a prevalence of 26% in Samoa and American Samoa [2] and 15% in Tonga [3], but is extremely rare in other genotyped populations. In the Genome Aggregation Database [4], it was observed in 5/76,104 European (0.0033%) and 2/24,773 Asian individuals (0.0040%) (Table 1), and in TOPMed (www.nhlbiwgs.org) in 3/62,787 individuals (0.0024%). (In the original TOPMed release, a Samoan data set was included, thus an A-allele prevalence of 0.007 is recorded for TOPMed on Ensembl (as of 10 October 2017). However, in the latest Bravo Freeze 5 release (used here) that Samoan data set was not included.). Therefore, the frequencies reported by Berry et al. [1] are considerably greater than those observed in the Genome Aggregation Database and are extremely unlikely to have occurred by chance (European PFisher = 4 × 10−80; Asian 9 × 10−19). They are also inconsistent with our own findings. We genotyped rs373863828 in two NZ European sample sets and observed A-allele frequencies of 0.15% in the Screening for Pregnancy Endpoints (SCOPE) study and 0.19% in the Gout Genetics study (Table 1). These frequencies were considerably higher than observed in the Genome Aggregation Database (PFisher = 1 × 10−4 and 4 × 10−7, respectively), consistent with the introduction of the A-allele into the NZ European population by admixture with the Māori and Pacific populations. However, the frequencies in our sample sets were tenfold lower than those reported by Berry et al. [1] and differed significantly (PFisher < 3 × 10−7), with non-overlapping 99% confidence intervals. We also genotyped two NZ Asian sample sets derived from the same studies, observing no A-allele-positive individuals in either sample set (Table 1).

Table 1 Comparison of rs373863828 A-allele frequencies observed in four European and four Asian sample sets
Full size table

The SCOPE European and Asian data are drawn from a similar population to that of Berry et al. [1]—the former from children born 2005–2008 in Auckland and the latter from children born in 2009 and 2010 in Auckland and the neighboring Waikato region. Non-reporting of Māori and/or Pacific ethnicity by European or Asian mothers cannot explain the observed A-allele prevalence in the European and Asian children (Table 2). Using New Zealand inter-ethnic partnership data [5] from the 2001 census, we estimate that if 10%, for example, of European or Asian mothers did not report Māori and/or Pacific ethnicity the A-allele prevalence would be 5.4 × 10−4 and 2.0 × 10−4, respectively—considerably lower than the prevalences of 0.015 and 0.011, respectively, reported by Berry et al. [1].

Table 2 Estimated rs373863828 A-allele frequency with maternal non-declaration of Māori and/or Pacific ancestry in children from partnerships [1] between Asian or European individuals and Māori or Pacific individuals
Full size table

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References

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Authors and Affiliations

  1. Department of Biochemistry, University of Otago, Dunedin, New Zealand

    Tanya J Major, Ruth K Topless & Tony R Merriman

  2. Department of Obstetrics and Gynaecology, University of Auckland, Auckland, New Zealand

    Mohanraj Krishnan, John Thompson & Andrew N Shelling

  3. Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland University of Auckland, Auckland, New Zealand

    Mohanraj Krishnan, Nicola Dalbeth, Peter R Shepherd & Rinki Murphy

  4. Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand

    Ofa Dewes, David Grattan, Peter R Shepherd, Rinki Murphy & Tony R Merriman

  5. Department of Paediatrics, Child and Youth Health, University of Auckland, Auckland, New Zealand

    John Thompson

  6. Renal Services, Waitemata District Health Board, Auckland, New Zealand

    Janak de Zoysa

  7. Department of Medicine, University of Otago Christchurch, Christchurch, New Zealand

    Lisa K Stamp

  8. Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Ranjan Deka

  9. Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA

    Daniel E Weeks

  10. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA

    Daniel E Weeks & Ryan L Minster

  11. Department of Mathematics and Statistics, University of Otago, Dunedin, New Zealand

    Phillip Wilcox

  12. Department of Anatomy, University of Otago, Dunedin, New Zealand

    David Grattan

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Correspondence to Tony R Merriman.

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Major, T.J., Krishnan, M., Topless, R.K. et al. Re: “Widespread prevalence of a CREBRF variant among Māori and Pacific children is associated with weight and height in early childhood”. Int J Obes 42, 1389–1391 (2018). https://doi.org/10.1038/s41366-018-0025-1

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