Abstract

Number of children is an important human trait and studies have indicated associations with single-nucleotide polymorphisms (SNPs). Aim: to give further evidence for four associations using a large sample of Polish subjects. Data from the POPULOUS genetic database was provided from anonymous, healthy, unrelated, Polish volunteers of both sexes (N = 5760). SNPs (n = 173) studied: (a) 69 from the chromosome 17 H1/H2 inversion; (b) six from 1q21.3, 5q21.3 and 14q21.2; and (c) 98 random negative controls. Zero-inflated negative-binomial regression (z.i.) was performed (0–3 numbers of children per individual (NCI) set as non-events; adjustors: year of birth, sex). Significance level p = 0.05 with Bonferroni correction. Statistically-significant differences (with data from both sexes combined) were obtained from highly-linked inversion SNPs: representative rs12373123 gave means: homozygotes TT: 2.31 NCI (n = 1418); heterozygotes CT: 2.35 NCI (n = 554); homozygotes CC: 2.44 NCI (n = 43) (genotype p = 0.01; TTvs.CC p = 0.004; CTvs.CC p = 0.009). (Male data alone gave similar results.) Recessive modeling indicated that H2-homozygotes had 0.118 more children than H1-homozygotes + heterozygotes (z.i.-count estimates ± standard errors: CT, − 0.508 ± 0.194; TT, − 0.557 ± 0.191). The non-over-dispersed count model detected no interactions: of importance there was no significant interaction with age. No positive results were obtained from negative-control SNPs or (b). Conclusions: association between the H1/H2 inversion and numbers of children (previously reported in Iceland) has been confirmed, albeit using a different statistical model. One limitation is the small amount of data, despite initially ~ 6000 subjects. Causal studies require further investigation.

Details

Title
Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland
Author
Clark, Jeremy S. C. 1 ; van de Wetering, Thierry 1 ; Marciniak, Błażej 2 ; Żądzińska, Elżbieta 3 ; Ciechanowicz, Andrzej 1 ; Kaczmarczyk, Mariusz 1 ; Boroń, Agnieszka 1 ; Rydzewska, Kamila 1 ; Posiadło, Konrad 1 ; Strapagiel, Dominik 2 

 Pomeranian Medical University, Department of Clinical and Molecular Biochemistry, Szczecin, Poland (GRID:grid.107950.a) (ISNI:0000 0001 1411 4349) 
 University of Lodz, Biobank Lab, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, Lodz, Poland (GRID:grid.10789.37) (ISNI:0000 0000 9730 2769) 
 University of Lodz, Department of Anthropology, Faculty of Biology and Environmental Protection, Lodz, Poland (GRID:grid.10789.37) (ISNI:0000 0000 9730 2769); University of Adelaide, Biological Anthropology and Comparative Anatomy Research Unit, School of Medicine, Adelaide, Australia (GRID:grid.1010.0) (ISNI:0000 0004 1936 7304) 
Publication year
2022
Publication date
2022
Publisher
Nature Publishing Group
e-ISSN
20452322
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2732927769
Copyright
© The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.