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

Yan Guo, Hui Shen, Peng Xiao, Dong Hai Xiong, Tie Lin Yang, Yan Fang Guo, Ji Rong Long, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1009-1014
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume91
Issue number3
DOIs
StatePublished - Mar 2006

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Menarche
Quantitative Trait Loci
Genes
Microsatellite Repeats
Anthropology
Women's Health
Human Genome
Pedigree

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche. / Guo, Yan; Shen, Hui; Xiao, Peng; Xiong, Dong Hai; Yang, Tie Lin; Guo, Yan Fang; Long, Ji Rong; Recker, Robert R.; Deng, Hong Wen.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 91, No. 3, 03.2006, p. 1009-1014.

Research output: Contribution to journalArticle

Guo, Yan ; Shen, Hui ; Xiao, Peng ; Xiong, Dong Hai ; Yang, Tie Lin ; Guo, Yan Fang ; Long, Ji Rong ; Recker, Robert R. ; Deng, Hong Wen. / Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche. In: Journal of Clinical Endocrinology and Metabolism. 2006 ; Vol. 91, No. 3. pp. 1009-1014.
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AU - Recker, Robert R.

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