The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population

Abstract Human populations, especially European, are polymorphic in the RHD gene. A significant fraction of their members carry no copy of the coding section of RHD gene, which results in their Rh-negative blood type. Theoretically, this polymorphism should be unstable. Carriers of the less frequent...

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Autores principales:	Jaroslav Flegr, Lenka Příplatová, Jana Hlaváčová, Blanka Šebánková, Emanuel Žďárský, Šárka Kaňková
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f29594d393a04b6cb5521b8541636342
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spelling	oai:doaj.org-article:f29594d393a04b6cb5521b85416363422021-11-14T12:20:36ZThe importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population10.1038/s41598-021-00977-12045-2322https://doaj.org/article/f29594d393a04b6cb5521b85416363422021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-00977-1https://doaj.org/toc/2045-2322Abstract Human populations, especially European, are polymorphic in the RHD gene. A significant fraction of their members carry no copy of the coding section of RHD gene, which results in their Rh-negative blood type. Theoretically, this polymorphism should be unstable. Carriers of the less frequent allele are penalized by reduced fertility because of the immunization of RhD-negative mothers by their RhD-positive babies, which results in hemolytic disease of the fetus and newborn in their subsequent progeny. For about 90 years, some form of balancing selection has been suspected to sustain this polymorphism. Several recent studies showed that the RhD-positive heterozygotes express higher viability than both types of homozygotes. However, the genotype of subjects in these studies was estimated only by indirect methods. Here we compared the physical and mental health of 178 women and 86 men who were directly tested for their RHD genotype. The results showed that RhD-positive homozygotic women had worse and RhD-positive homozygotic men better physical health than RhD-negative homozygotes; the difference between RhD-negative homozygotes and heterozygotes was not significant. Our results confirmed that health of RhD-positive heterozygotes and homozygotes differ. Therefore, any result of the comparison of subjects with RhD-positive and RhD-negative phenotype depends on the heterozygote-to-homozygote ratio in the RhD-positive sample. It is, therefore, crucial to analyze the effects of RHD-genotypes, not phenotypes in future studies.Jaroslav FlegrLenka PříplatováJana HlaváčováBlanka ŠebánkováEmanuel ŽďárskýŠárka KaňkováNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jaroslav Flegr Lenka Příplatová Jana Hlaváčová Blanka Šebánková Emanuel Žďárský Šárka Kaňková The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population
description	Abstract Human populations, especially European, are polymorphic in the RHD gene. A significant fraction of their members carry no copy of the coding section of RHD gene, which results in their Rh-negative blood type. Theoretically, this polymorphism should be unstable. Carriers of the less frequent allele are penalized by reduced fertility because of the immunization of RhD-negative mothers by their RhD-positive babies, which results in hemolytic disease of the fetus and newborn in their subsequent progeny. For about 90 years, some form of balancing selection has been suspected to sustain this polymorphism. Several recent studies showed that the RhD-positive heterozygotes express higher viability than both types of homozygotes. However, the genotype of subjects in these studies was estimated only by indirect methods. Here we compared the physical and mental health of 178 women and 86 men who were directly tested for their RHD genotype. The results showed that RhD-positive homozygotic women had worse and RhD-positive homozygotic men better physical health than RhD-negative homozygotes; the difference between RhD-negative homozygotes and heterozygotes was not significant. Our results confirmed that health of RhD-positive heterozygotes and homozygotes differ. Therefore, any result of the comparison of subjects with RhD-positive and RhD-negative phenotype depends on the heterozygote-to-homozygote ratio in the RhD-positive sample. It is, therefore, crucial to analyze the effects of RHD-genotypes, not phenotypes in future studies.
format	article
author	Jaroslav Flegr Lenka Příplatová Jana Hlaváčová Blanka Šebánková Emanuel Žďárský Šárka Kaňková
author_facet	Jaroslav Flegr Lenka Příplatová Jana Hlaváčová Blanka Šebánková Emanuel Žďárský Šárka Kaňková
author_sort	Jaroslav Flegr
title	The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population
title_short	The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population
title_full	The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population
title_fullStr	The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population
title_full_unstemmed	The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population
title_sort	importance of being heterozygote: effects of rhd-genotype-sex interaction on the physical and mental health of a non-clinical population
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/f29594d393a04b6cb5521b8541636342
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The importance of being heterozygote: effects of RHD-genotype-sex interaction on the physical and mental health of a non-clinical population

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