Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in caucasian females

Abstract

BACKGROUND: The insulin-like growth factor 1 (IGF1) gene, which plays a crucial role in hypothalamicpituitary-ovarian hormone-controlled metabolic processes, may influence the onset of menarche. Our study aimed to test association between IGF1 polymorphisms with the variation of age at menarche (AAM) in Caucasian females. METHODS: We recruited a sample of 1048 females from 354 Caucasian nuclear families and genotyped 19 single-nucleotide polymorphisms (SNPs) spanning the entire IGF1 gene. Pairwise linkage disequilibrium among SNPs was measured, and the haplotype blocks were inferred. Both single SNP markers and haplotypes were tested for association with AAM using the quantitative transmission disequilibrium test. RESULTS: Significant association (P 5 0.0153) between AAM and SNP3 (rs6214) in block1 was detected. CONCLUSIONS: Our results suggested a potential effect of SNP3 in the IGF1 gene on AAM variation in Caucasian women for the first time. However, further independent studies are needed to confirm our findings.

Association of ALOX12 and ALOX15 gene polymorphisms with age at menarche and natural menopause in Chinese women

“…However, this does not exclude the possibility that common variants with low penetrance or rare variants with high penetrance gene variants exist in key genes that contribute a large susceptibility to complex diseases. 51,52 Third, as with the discussions in the previous studies, 53,54 AAM data were collected through retrospective self-report, which may incur recalling bias. However, the participants in our nuclear families were aged from 20 to 40 years, with shorter interval periods, which allowed us to minimize the likelihood of a false-positive association.…”

Study of leptin levels and gene polymorphisms in patients with central precocious puberty

“…A polymorphism in the IGF-1 receptor gene (GAA1013 to GAG) is significantly associated with early pubarche (10). Furthermore, a potential effect of SNP3 (rs6214) in the IGF-1 gene on the age at menarche in white women has been reported (11).…”

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

“…Recently a polymorphism in the IGF-I gene was shown to be associated with age at menarche (20). Tube feeding to overcome severe nutritional problems within the first year of life was necessary in one patient with IGF-I deficiency (1) and two patients with IGF-I resistance (7).…”