Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche.

Guo Y, Shen H, Xiao P, Xiong DH, Yang TL, Guo YF, Long JR, Recker RR, Deng HW
J Clin Endocrinol Metab. 2006 91 (3): 1009-14

PMID: 16394082 · DOI:10.1210/jc.2005-2179

CONTEXT - Age at menarche (AAM) is an important anthropological variable that has major implications for a woman's health later in life. Genetic influence has been shown to contribute greatly to AAM, but the specific genetic determinants are largely unknown.

OBJECTIVE - The objective of this study was to identify the quantitative trait loci (QTL) underlying the variations in AAM.

METHODS - We performed a large-scale, genomewide, linkage scan in 2461 Caucasian women from 402 pedigrees. All subjects were genotyped with 410 microsatellite markers spaced approximately 8.9 cM apart across the human genome. Using the variance component method, we conducted multipoint linkage analyses and two-locus tests for epistatic interaction.

RESULTS - The strongest linkage signal was obtained at the genomic region of 22q13 (LOD, 3.70); the other two suggestive linkages were on 22q11 (LOD, 2.68) and 11q23 (LOD, 1.98), respectively. We also detected significant epistatic interaction between genomic regions 22q13 and 3q13.

CONCLUSIONS - The identification of QTL and epistatic interaction in a large female sample laid a foundation for independent replication and fine-mapping studies as well as positional and functional candidate gene studies aimed at finding the causal genetic variants and hidden mechanisms concerning the variations in AAM.

MeSH Terms (15)

Age Factors Chromosome Mapping Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 22 European Continental Ancestry Group Female Genetic Markers Genetic Variation Genome, Human Humans Lod Score Male Menarche Pedigree Quantitative Trait Loci

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