Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
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基因组的关联研究在高血糖和不良妊娠结局（HAPO）研究队列中检测到新的母体单核苷酸多态性和拷贝数变体。
DOI：
10.1111/ahg.12021
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发表时间：
2013-07
影响因子：
1.9
通讯作者：
DeWan AT
中科院分区：
文献类型：
--
作者：
Zhao L;Bracken MB;DeWan AT
进行了一项全基因组关联研究，以确定与先兆子痫相关的母体单核苷酸多态性（SNP）和拷贝数变异（CNV）。对来自高血压和不良妊娠结局（HAPO）研究的1070名非洲裔加勒比人（n=21例病例和1049例对照）、723名西班牙裔（n=62例病例和661例对照）母亲和1257名欧洲血统母亲（n=50例病例和1207例对照）进行病例对照分析。欧洲血统受试者在Illumina Human 610-Quad上进行基因分型，非洲裔加勒比人和西班牙裔受试者在Illumina Human 1 M-Duo BeadChip微阵列上进行基因分型。使用PLINK分析全基因组SNP数据。使用三种检测算法（GNOSIS、PennCNV和QuantiSNP）调用CNV，使用CNVision合并，然后使用严格的标准筛选。将SNP和CNV结果与爱荷华州妊娠高血压研究（SOPHIA）的结果进行比较，SOPHIA是一个独立的白人母亲先兆子痫病例对照数据集（n=177例病例和116例对照）。确定了每个HAPO种族组的顶级SNP列表，但没有一个达到Bonferroni校正的显著性。新的候选CNVs显示先兆子痫病例中的富集，也确定在每个三个种族。几个变体在SOPHIA中重复性地复制。所发现的SNP和拷贝数可变区为先兆子痫提供了值得进一步复制和研究的有趣的候选遗传变异。
A genome-wide association study was undertaken to identify maternal single nucleotide polymorphisms (SNPs) and copy-number variants (CNVs) associated with preeclampsia. Case-control analysis was performed on 1070 Afro-Caribbean (n=21 cases and 1049 controls) and 723 Hispanic (n=62 cases and 661 controls) mothers and 1257 mothers of European ancestry (n=50 cases and 1207 controls) from the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study. European ancestry subjects were genotyped on Illumina Human610-Quad and Afro-Caribbean and Hispanic subjects were genotyped on Illumina Human1M-Duo BeadChip microarrays. Genome-wide SNP data were analyzed using PLINK. CNVs were called using three detection algorithms (GNOSIS, PennCNV, and QuantiSNP), merged using CNVision, and then screened using stringent criteria. SNP and CNV findings were compared to those of the Study of Pregnancy Hypertension in Iowa (SOPHIA), an independent preeclampsia case-control dataset of Caucasian mothers (n=177 cases and 116 controls). A list of top SNPs were identified for each of the HAPO ethnic groups, but none reached Bonferroni-corrected significance. Novel candidate CNVs showing enrichment among preeclampsia cases were also identified in each of the three ethnic groups. Several variants were suggestively replicated in SOPHIA. The discovered SNPs and copy-number variable regions present interesting candidate genetic variants for preeclampsia that warrant further replication and investigation.
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影响因子：
3.1
作者：
Zhao L;Triche EW;Walsh KM;Bracken MB;Saftlas AF;Hoh J;Dewan AT
通讯作者：
Dewan AT
影响因子：
3.7
作者：
Tsuang DW;Millard SP;Ely B;Chi P;Wang K;Raskind WH;Kim S;Brkanac Z;Yu CE
通讯作者：
Yu CE
DOI：
10.1111/j.1471-0528.1981.tb01304.x
发表时间：
1981-01-01
期刊：
BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
影响因子：
--
作者：
SUTHERLAND, A;COOPER, DW;MACGILLIVRAY, I
通讯作者：
MACGILLIVRAY, I
影响因子：
7.2
作者：
Caughey, AB;Stotland, NE;Escobar, GJ
通讯作者：
Escobar, GJ
DOI：
10.1093/bioinformatics/btq419
发表时间：
2010-09-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Pruim RJ;Welch RP;Sanna S;Teslovich TM;Chines PS;Gliedt TP;Boehnke M;Abecasis GR;Willer CJ
通讯作者：
Willer CJ