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Background/Aims . Genetic variants that affect estrogen activity may influence the risk of Alzheimer's disease (AD). In women with Down syndrome, we examined the relation of polymorphisms in hydroxysteroid-17beta-dehydrogenase ( HSD17B1 ) to age at onset and risk of AD.  HSD17B1  encodes the enzyme 17 β -hydroxysteroid dehydrogenase (HSD1), which catalyzes the conversion of estrone to estradiol.  Methods . Two hundred and thirty-eight women with DS, nondemented at baseline, 31–78 years of age, were followed at 14–18-month intervals for 4.5 years. Women were genotyped for 5 haplotype-tagging single-nucleotide polymorphisms (SNPs) in the  HSD17B1  gene region, and their association with incident AD was examined.  Results . Age at onset was earlier, and risk of AD was elevated from two- to threefold among women homozygous for the minor allele at 3 SNPs in intron 4 (rs676387), exon 6 (rs605059), and exon 4 in  COASY  (rs598126). Carriers of the haplotype TCC, based on the risk alleles for these three SNPs, had an almost twofold increased risk of developing AD (hazard ratio = 1.8, 95% CI, 1.1–3.1).  Conclusion . These findings support experimental and clinical studies of the neuroprotective role of estrogen.

Polymorphisms inHSD17B1: Early Onset and Increased Risk of Alzheimer’s Disease in Women with Down Syndrome