Height at menarche is influenced by estrogen receptor alpha gene polymorphisms

Area of Science:

• Genetics
• Endocrinology
• Human Growth and Development

Background:

• Polymorphic variations in estrogen receptors (ERs) genes are hypothesized to affect female pubertal linear growth.
• Estrogen receptor alpha (ERalpha) gene polymorphisms are of interest for their potential role in growth regulation.

Purpose of the Study:

• To investigate the influence of PvuII and XbaI polymorphisms in the ERalpha gene on height at menarche in girls.
• To determine if specific ERalpha gene variants are associated with variations in linear growth leading up to menarche.

Main Methods:

• A cohort of 127 healthy girls was monitored from premenarche to menarche.
• Anthropometric measurements were recorded, and height at menarche was determined using individual centile curves.
• PvuII and XbaI ERalpha gene polymorphisms were analyzed using restriction fragment length polymorphism-polymerase chain reaction (RLFP-PCR).

Main Results:

• No significant association was found between ERalpha gene polymorphisms and the age at menarche.
• Girls with the pp genotype were, on average, 3.2 cm shorter at menarche than PP homozygotes.
• XX and Xx homozygotes were shorter than subjects with XX and Xx genotypes, respectively (3.0 cm and 3.9 cm).
• Subjects with the px haplotype were 2.3–3.1 cm shorter at menarche compared to other haplotype carriers.
• Lower leg length-to-height ratios were observed in xx homozygotes and px haplotype carriers at menarche.

Conclusions:

• Height at menarche is significantly influenced by ERalpha gene polymorphism.
• Specific ERalpha genotypes (pp, xx) and haplotypes (px) are associated with reduced height at the onset of menstruation.