Journal
HUMAN GENETICS
Volume 131, Issue 7, Pages 1245-1249Publisher
SPRINGER
DOI: 10.1007/s00439-012-1154-6
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Funding
- National Basic Research Development Program of China [2010CB945200, 2011CB504104]
- National Twelfth Five-Year Plan for Science and Technology Support [2012BAI10B03]
- Shanghai Key Discipline [S30202]
- Shanghai Key Project of Basic Science Research [09DZ1950400]
- Shanghai Natural Scientific Fund [09JC1416402, 09ZR1419100]
- Shanghai Jiao Tong University [YG2010ZD102]
- Program for Outstanding Medical Academic Leader [LJ 06003]
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CD33 and MS4A6A genes play potential key roles in the pathogenesis of Alzheimer's disease (AD). One recent genome-wide association study has revealed that the rs3865444 polymorphism in the CD33 gene and rs610932 polymorphism in the MS4A6A gene are associated with susceptibility to AD in Caucasians. To evaluate the relationship between the polymorphism of the CD33, MS4A6A gene and AD in the ethnic Chinese Han, we conducted a case-control study (n = 383, age > 54) to determine the prevalence of single-nucleotide polymorphism of two genes in patients with AD in Chinese population of Mainland, and clarified whether these polymorphisms are risk factors for AD. The prevalence of the allele (T) in the rs3865444 polymorphism of the CD33 gene and allele (C) in rs610932 polymorphism of the MS4A6A gene was significantly different in AD patients and control subjects (P < 0.001, respectively), and the results were not influenced by age, gender, or APOE status. Our data revealed the allele (T) of the rs3865444 polymorphism of the CD33 gene and the allele (C) of the rs610932 polymorphism of the MS4A6A gene may contribute to AD risk in the Chinese Han population.
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