Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length.
BACKGROUND
Age at menarche and menstrual cycle characteristics are indicators of endocrine function and may be risk factors for diseases such as reproductive cancers. The progesterone receptor gene (PGR) has been identified as a candidate gene for age at menarche and menstrual function.


METHODS
Women office workers ages 19-41 self-reported age at menarche and participated in a prospective study of menstrual function and fertility. First-morning urine was used as the DNA source. 444 women were genotyped for a functional variant in PGR, rs1042838 (Val660Leu), and 264 women were also genotyped for 29 other SNPs across the extended gene region.


RESULTS
Genetic variation across PGR was associated with age at menarche using a global score statistic (p = 0.03 among non-Hispanic whites). Women carrying two copies of the Val660Leu variant experienced menarche 1 year later than women carrying one or no copies of the variant (13.6 ± 0.5 vs. 12.6 ± 0.1; p = 0.03). The Val660Leu variant was also associated with decreased odds of short menstrual cycles (17-24 days) (OR, 95% CI: 0.54 [0.36, 0.80]; p = 0.002).


CONCLUSIONS
Genetic variation in PGR was associated with age at menarche and menstrual cycle length in this population. Further investigation of these associations in a replication dataset is warranted.
Taylor
K C
KC
Department of Epidemiology, Emory University, Atlanta, Ga, USA. kirat @ email.unc.edu
Small
C M
CM
Epstein
M P
MP
Sherman
S L
SL
Tang
W
W
Wilson
M M
MM
Bouzyk
M
M
Marcus
M
M
D000328:Adult; D000367:Age Factors; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008572:Menarche / Q000235:genetics*; D008597:Menstrual Cycle / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011980:Receptors, Progesterone / Q000235:genetics*; D012044:Regression Analysis; D017422:Sequence Analysis, DNA; D055815:Young Adult
D011980:Receptors, Progesterone; D004247:DNA
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