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Stroke. 2006;37:69-76
Published online before print December 1, 2005, doi: 10.1161/01.STR.0000194961.17292.33
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(Stroke. 2006;37:69.)
© 2006 American Heart Association, Inc.

Original Contributions

Genotype and Haplotype Association Study of the STRK1 Region on 5q12 Among Japanese

A Case-Control Study

Tomohiro Nakayama, MD, PhD; Satoshi Asai, MD, PhD; Naoyuki Sato, BAgr Masayoshi Soma, MD, PhD

From the Divisions of Receptor Biology (T.N., N.S.) and Genomic Epidemiology and Clinical Trials (S.A.), Advanced Medical Research Center, and Division of Nephrology and Endocrinology (M.S.), Department of Medicine, Nihon University School of Medicine, Tokyo, Japan.

Correspondence to Tomohiro Nakayama, MD, Division of Receptor Biology, Advanced Medical Research Center, Nihon University School of Medicine, Ooyaguchi-kamimachi, 30-1 Itabashi-ku, Tokyo 173-8610, Japan. E-mail tnakayam{at}med.nihon-u.ac.jp

Background and Purpose— Cerebral infarction is thought to be a multifactorial disease that is affected by several environmental factors and genetic variants. Gretarsdottir et al identified a candidate locus (STRK1) for cerebral infarction with a significant logarithm of odds score at 5q12 in whites in 2002 and subsequently identified the PDE4D gene as a susceptibility gene at this locus in 2003. The aims of this haplotype-based case-control study were to confirm, using microsatellite markers and single-nucleotide polymorphisms (SNPs), whether PDE4D is also a susceptibility gene for cerebral infarction in Japanese subjects.

Methods— Cerebral infarction was defined as noncardiogenic ischemic stroke with signs and symptoms lasting >1 month in duration. We genotyped 208 Japanese cerebral infarction patients and 270 non–cerebral infarction controls for 31 SNPs, 3 dinucleotide microsatellites, and 1 tetranucleotide variable number of tandem repeat. Haplotypes were constructed and their frequencies compared between the cerebral infarction patients and the controls.

Results— The haplotype-based case-control study revealed that in addition to the region of the PDE4D gene (P=0.002), another region (P<0.001) also existed within the STRK1 locus.

Conclusions— The region of the PDE4D gene and the other newly detected region within the STRK1 locus were associated with cerebral infarction.


Key Words: case-control studies • cerebral infarction • genetics • haplotypes




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