PMID- 18621447 OWN - NLM STAT- MEDLINE DCOM- 20100608 LR - 20221207 IS - 1558-1497 (Electronic) IS - 0197-4580 (Linking) VI - 31 IP - 4 DP - 2010 Apr TI - The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population. PG - 647-53 LID - 10.1016/j.neurobiolaging.2008.05.032 [doi] AB - The association of R219K and V825I polymorphisms of ABCA1 gene with cerebral infarction has been rarely reported. Here we wish to address this issue. A total of 476 subjects from Chinese Han ethnic population were investigated, including 152 control individuals and 324 patients with cerebral infarction. Genotyping of R219K and V825I were performed by PCR-RFLP analysis. Data were analyzed using a statistical package. The R219K genotype frequency distributions were significantly different between patients with atherothrombotic cerebral infarction (ACI) and control individuals, with fewer KK genotypes and more RR genotypes in ACI patients (chi(2)=9.89, P<0.01). The K allele is less frequent among ACI patients than in controls (chi(2)=9.16, P<0.005). A significant association of KK with decreased ACI risk was exhibited, especially in male patients, aged patients and individuals with hypertension. These results indicate that the K allele of R219K polymorphism is an independent protective factor against ACI. In addition, though there is no association of V825I with ACI, this polymorphism may have certain synergistic effect with hypertension in susceptibility to ACI. CI - Copyright (c) 2008 Elsevier Inc. All rights reserved. FAU - Wang, Ning AU - Wang N AD - Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China. FAU - Xue, Xie-Hua AU - Xue XH FAU - Lin, Yi AU - Lin Y FAU - Fang, Ling AU - Fang L FAU - Murong, Shenxing AU - Murong S FAU - Wu, Zhi-Ying AU - Wu ZY LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20080714 PL - United States TA - Neurobiol Aging JT - Neurobiology of aging JID - 8100437 RN - 0 (ABCA1 protein, human) RN - 0 (ATP Binding Cassette Transporter 1) RN - 0 (ATP-Binding Cassette Transporters) RN - 0 (Genetic Markers) SB - IM MH - ATP Binding Cassette Transporter 1 MH - ATP-Binding Cassette Transporters/*genetics MH - Adult MH - Age Distribution MH - Aged MH - Aged, 80 and over MH - Asian People/*genetics MH - Cerebral Infarction/ethnology/*genetics/metabolism MH - China/ethnology MH - DNA Mutational Analysis MH - Female MH - Gene Frequency/genetics MH - Genetic Markers/genetics MH - Genetic Predisposition to Disease/*genetics MH - Genetic Testing MH - Genotype MH - Humans MH - Hypertension/complications/genetics/physiopathology MH - Intracranial Arteriosclerosis/ethnology/*genetics/metabolism MH - Male MH - Middle Aged MH - Polymorphism, Genetic/*genetics MH - Sex Distribution EDAT- 2008/07/16 09:00 MHDA- 2010/06/09 06:00 CRDT- 2008/07/16 09:00 PHST- 2007/11/30 00:00 [received] PHST- 2008/04/29 00:00 [revised] PHST- 2008/05/28 00:00 [accepted] PHST- 2008/07/16 09:00 [pubmed] PHST- 2010/06/09 06:00 [medline] PHST- 2008/07/16 09:00 [entrez] AID - S0197-4580(08)00179-6 [pii] AID - 10.1016/j.neurobiolaging.2008.05.032 [doi] PST - ppublish SO - Neurobiol Aging. 2010 Apr;31(4):647-53. doi: 10.1016/j.neurobiolaging.2008.05.032. Epub 2008 Jul 14.