Yang Bao-Zhu, Han Shizhong, Kranzler Henry R, Palmer Abraham A, Gelernter Joel
Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut.
VA CT Healthcare Center, West Haven, Connecticut.
Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):261-268. doi: 10.1002/ajmg.b.32507. Epub 2016 Oct 20.
Sex influences risk for opioid dependence (OD). We hypothesized that sex might interact with genetic loci that influence the risk for OD. Therefore we performed an analysis to identify sex-specific genomic susceptibility regions for OD using linkage. Over 6,000 single nucleotide polymorphism (SNP) markers were genotyped for 1,758 African- and European-American (AA and EA) individuals from 739 families, ascertained via affected sib-pairs with OD and/or cocaine dependence. Autosomewide non-parametric linkage scans, stratified by sex and population, were performed. We identified one significant linkage region, segregating with OD in EA men, at 71.1 cM on chromosome 4 (LOD = 3.29; point-wise P = 0.00005; empirical autosome-wide P = 0.042), which significantly differed from the linkage signal at the same location in EA women (empirical P = 0.002). Three suggestive linkage signals were identified at 181.3 cM on chromosome 7 (LOD = 2.18), 104 cM on chromosome 11 (LOD = 1.85), and 60.9 cM on chromosome 16 (LOD = 1.93) in EA women. In AA men, four suggestive linkage signals were detected at 201.1 cM on chromosome 3 (LOD = 2.32), 152.9 cM on chromosome 6 (LOD = 1.86), 16.8 cM on chromosome 7 (LOD = 1.95), and 36.1 cM on chromosome 17 (LOD = 1.99). The significant region, mapping to 4q12-4q13.1, harbors several OD candidate genes with interconnected functionality, including VEGFR, CLOCK, PDCL2, NMU, NRSF, and IGFBP7. In conclusion, these results provide an evidence for the existence of sex-specific and population-specific differences in OD. Furthermore, these results provide positional information that will facilitate the use of targeted next-generation sequencing to search for genes that contribute to sex-specific differences in OD. © 2016 Wiley Periodicals, Inc.
性别会影响阿片类药物依赖(OD)的风险。我们假设性别可能与影响OD风险的基因座相互作用。因此,我们进行了一项分析,以使用连锁分析来确定OD的性别特异性基因组易感性区域。对来自739个家庭的1758名非裔和欧美裔(AA和EA)个体的6000多个单核苷酸多态性(SNP)标记进行了基因分型,这些个体是通过患有OD和/或可卡因依赖的患病同胞对确定的。进行了按性别和人群分层的全常染色体非参数连锁扫描。我们在4号染色体上71.1厘摩处确定了一个显著的连锁区域,该区域在EA男性中与OD共分离(LOD = 3.29;逐点P = 0.00005;经验性全常染色体P = 0.042),这与EA女性在同一位置的连锁信号有显著差异(经验性P = 0.002)。在EA女性中,在7号染色体上181.3厘摩处(LOD = 2.18)、11号染色体上104厘摩处(LOD = 1.85)和16号染色体上60.9厘摩处(LOD = 1.93)确定了三个提示性连锁信号。在AA男性中,在3号染色体上201.1厘摩处(LOD = 2.32)、6号染色体上152.9厘摩处(LOD = 1.86)、7号染色体上16.8厘摩处(LOD = 1.95)和17号染色体上36.1厘摩处(LOD = 1.99)检测到四个提示性连锁信号。该显著区域定位于4q12 - 4q13.1,包含几个功能相互关联的OD候选基因,包括VEGFR、CLOCK、PDCL2、NMU、NRSF和IGFBP7。总之,这些结果为OD中存在性别特异性和人群特异性差异提供了证据。此外,这些结果提供了定位信息,将有助于使用靶向新一代测序来寻找导致OD中性别特异性差异的基因。© 2016威利期刊公司