Sex differences in the genetic basis of morning serum cortisol levels: Genome-wide screen identifies two novel loci specific to women
Sex differences in the genetic basis of morning serum cortisol levels: Genome-wide screen identifies two novel loci specific to women
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DOI：
10.1210/jc.2005-0384
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发表时间：
2005-08-01
影响因子：
5.8
通讯作者：
Ober, C
中科院分区：
文献类型：
--
作者：
Kurina, LM;Weiss, LA;Ober, C
背景：对于特定基因对皮质醇水平，特别是早晨皮质醇水平的影响知之甚少。目的：本研究的目的是确定与早晨血清皮质醇水平相关的数量性状位点。设计：我们使用专为大型谱系设计的连锁和关联方法，对早晨血清皮质醇进行了基因组筛选。我们对整个样本进行了这些分析，并按性别进行了划分。背景：这项研究是在南达科他州的九个公共哈特派农场进行的。参与者：哈特派是一群年轻的创始人，他们在美国西部和加拿大实行公共农业生活方式。来自单一谱系的 11-89 岁哈特派（n = 504，53% 女性）参与了这项研究。 主要结果测量：主要结果测量是与早晨血清皮质醇水平变化显着相关或相关的标记。结果：在 11p 的整个样本中发现了一个全基因组显着关联（D11S1981，P = 0.000092）。性别分区分析结果表明，这种关联仅限于女性（女性，P = 0.000084；男性，P = 0.20）。该位点的 146 bp 等位基因导致女性早晨皮质醇值差异的 7%，与非携带者相比，该等位基因纯合的女性早晨皮质醇水平增加了 89%。在女性中，第二个全基因组显着关联在 14q 上被发现（D14S74，P = 0.000091）。结论：我们的结果表明，男性和女性早晨皮质醇水平的遗传决定因素可能不同，11p 和 14q 上的基因座影响女性早晨皮质醇水平。
Context: Relatively little is known about the influence of specific genes on cortisol levels, particularly morning cortisol levels.Objective: The objective of this study was to identify quantitative trait loci associated with morning serum cortisol levels.Design: We carried out a genome screen for morning serum cortisol using linkage and association methods tailored for use in large pedigrees. We conducted these analyses both in the whole sample and partitioned by sex.Setting: This study was conducted on nine communal Hutterite farms in South Dakota.Participants: The Hutterites are a young founder population who practice a communal, farming lifestyle in the western United States and in Canada. Hutterites (n = 504, 53% female) aged 11-89 yr from a single pedigree participated in this study.Main Outcome Measures: The main outcome measures were markers significantly linked or associated with variation in morning serum cortisol levels.Results: One genome-wide significant association was identified in the whole sample on 11p (D11S1981, P = 0.000092). Results of sex-partitioned analyses indicated that this association was restricted to females (females, P = 0.000084; males, P = 0.20). The 146-bp allele at this locus accounted for 7% of the variance in morning cortisol values in females, and females homozygous for the allele had an 89% increase in morning cortisol levels compared with female noncarriers. A second genome-wide significant association in females was identified on 14q (D14S74, P = 0.000091).Conclusions: Our results suggest that the genetic determinants of morning cortisol levels may be different for men and women and that loci on 11p and 14q influence morning cortisol levels in women.