Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33
Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33
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DOI：
10.1038/sj.mp.4001453
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发表时间：
2004-01-01
影响因子：
11
通讯作者：
McMahon, FJ
中科院分区：
文献类型：
--
作者：
Chen, YS;Akula, N;McMahon, FJ
染色体13q33上的嵌套基因G72和G30附近的标记与精神分裂症和最近的双相情感障碍(BPAD)的病因有关。Hattori等人(2003)报道，在22个家系样本中，G72/G30基因座附近的单核苷酸多态(SNPs)与BPAD相关，在第二个更大的三联体样本中，SNP单倍型与BPAD相关。本研究试图在一个独立的病例对照样本中重复这一发现。在139例患者和113名种族匹配的对照组中，对G72/G30基因座附近的6个SNP进行了检测，其中包括先前研究中关联最强的标记。BPAD与两个相邻的SNP之间存在显著关联(最小P=0.007；全局P=0.024)。单倍型分析为关联提供了额外的支持(最小P=0.004；全局P=0.004)。对31个非连锁微卫星标记的分析发现，在所研究的病例或对照中没有群体分层。虽然相关的等位基因和单倍型与以前报道的不同，但这些新的结果在一个独立的样本中提供了进一步的证据，证明BPAD与基因G72和G30附近的遗传变异之间存在关联。
Markers near the nested genes G72 and G30 on chromosome 13q33 have been implicated in the etiology of schizophrenia and, recently, bipolar affective disorder (BPAD). Hattori et al (2003) reported that single-nucleotide polymorphisms (SNPs) near the G72/G30 locus were associated with BPAD in a sample of 22 pedigrees, and that SNP haplotypes were associated in a second, larger sample of triads. The present study attempts to replicate this finding in an independent case-control sample. Six SNPs near the G72/G30 locus, including the most strongly associated markers in the previous study, were tested in 139 cases and 113 ethnically matched controls. Significant association was detected between BPAD and two adjacent SNPs (smallest P=0.007; global P=0.024). Haplotype analysis produced additional support for association (smallest P=0.004; global P=0.004). Analysis of 31 unlinked microsatellite markers detected no population stratification in the cases or controls studied. Although the associated alleles and haplotypes differ from those previously reported, these new results provide further evidence, in an independent sample, for an association between BPAD and genetic variation in the vicinity of the genes G72 and G30.