PTX3 Genetic Variation and Dizygotic Twinning in The Gambia

Could Pleiotropy with Innate Immunity Explain Common Dizygotic Twinning in Africa?

Giorgio Sirugo, Digna R Velez Edwards, Kelli K. Ryckman, Cyrille Bisseye, Marquitta J. White, Bunja Kebbeh, Gerard A J Morris, Richard A. Adegbola, Alessandra Tacconelli, Irene M. Predazzi, Giuseppe Novelli, Fredrik O. Vannberg, Kunle Odunsi, Grier P. Page, Scott M. Williams

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Dizygotic (DZ) twinning has a genetic component and is common among sub-Saharan Africans; in The Gambia its frequency is up to 3% of live births. Variation in PTX3, encoding Pentraxin 3, a soluble pattern recognition receptor that plays an important role both in innate immunity and in female fertility, has been associated with resistance to Mycobacterium tuberculosis pulmonary disease and to Pseudomonas aeruginosa infection in cystic fibrosis patients. We tested whether PTX3 variants in Gambian women associate with DZ twinning, by genotyping five PTX3 single nucleotide polymorphisms (SNPs) in 130 sister pairs (96 full sibs and 34 half sibs) who had DZ twins. Two, three and five SNP haplotypes differed in frequency between twinning mothers and those without a history of twinning (from P= 0.006 to 3.03e-06 for two SNP and three SNP haplotypes, respectively). Twinning mothers and West African tuberculosis-controls from a previous study shared several frequent haplotypes. Most importantly, our data are consistent with an independently reported association of PTX3 and female fertility in a sample from Ghana. Taken together, these results indicate that selective pressure on PTX3 variants that affect the innate immune response to infectious agents, could also produce the observed high incidence of DZ twinning in Gambians.

Original languageEnglish
Pages (from-to)454-463
Number of pages10
JournalAnnals of Human Genetics
Volume76
Issue number6
DOIs
Publication statusPublished - Nov 2012

Fingerprint

Gambia
Innate Immunity
Single Nucleotide Polymorphism
Haplotypes
Fertility
Mothers
Pattern Recognition Receptors
Dizygotic Twins
Pseudomonas Infections
Ghana
Live Birth
Mycobacterium tuberculosis
Cystic Fibrosis
Pseudomonas aeruginosa
Lung Diseases
Siblings
Tuberculosis
Incidence

Keywords

  • Africa
  • Dizygotic twinning
  • Fertility
  • Innate immunity
  • Pentraxin 3
  • The Gambia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

PTX3 Genetic Variation and Dizygotic Twinning in The Gambia : Could Pleiotropy with Innate Immunity Explain Common Dizygotic Twinning in Africa? / Sirugo, Giorgio; Edwards, Digna R Velez; Ryckman, Kelli K.; Bisseye, Cyrille; White, Marquitta J.; Kebbeh, Bunja; Morris, Gerard A J; Adegbola, Richard A.; Tacconelli, Alessandra; Predazzi, Irene M.; Novelli, Giuseppe; Vannberg, Fredrik O.; Odunsi, Kunle; Page, Grier P.; Williams, Scott M.

In: Annals of Human Genetics, Vol. 76, No. 6, 11.2012, p. 454-463.

Research output: Contribution to journalArticle

Sirugo, G, Edwards, DRV, Ryckman, KK, Bisseye, C, White, MJ, Kebbeh, B, Morris, GAJ, Adegbola, RA, Tacconelli, A, Predazzi, IM, Novelli, G, Vannberg, FO, Odunsi, K, Page, GP & Williams, SM 2012, 'PTX3 Genetic Variation and Dizygotic Twinning in The Gambia: Could Pleiotropy with Innate Immunity Explain Common Dizygotic Twinning in Africa?', Annals of Human Genetics, vol. 76, no. 6, pp. 454-463. https://doi.org/10.1111/j.1469-1809.2012.00723.x
Sirugo, Giorgio ; Edwards, Digna R Velez ; Ryckman, Kelli K. ; Bisseye, Cyrille ; White, Marquitta J. ; Kebbeh, Bunja ; Morris, Gerard A J ; Adegbola, Richard A. ; Tacconelli, Alessandra ; Predazzi, Irene M. ; Novelli, Giuseppe ; Vannberg, Fredrik O. ; Odunsi, Kunle ; Page, Grier P. ; Williams, Scott M. / PTX3 Genetic Variation and Dizygotic Twinning in The Gambia : Could Pleiotropy with Innate Immunity Explain Common Dizygotic Twinning in Africa?. In: Annals of Human Genetics. 2012 ; Vol. 76, No. 6. pp. 454-463.
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AU - Morris, Gerard A J

AU - Adegbola, Richard A.

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