Concordance for sex and the pseudoautosomal gene hypothesis revisited: no evidence of increased sex concordance in a nationwide Finnish sample of siblings with paternally derived schizophrenia.
Concordance for sex and the pseudoautosomal gene hypothesis revisited: no evidence of increased sex concordance in a nationwide Finnish sample of siblings with paternally derived schizophrenia.
复制标题
重新审视性别一致性和伪常染色体基因假说：在芬兰全国范围内患有父系精神分裂症的兄弟姐妹样本中，没有证据表明性别一致性有所增加。
DOI：
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发表时间：
1998
影响因子：
17.7
通讯作者：
J. Lönnqvist
中科院分区：
文献类型：
--
作者：
D. Lichtermann;I. Hovatta;J. Terwilliger;L. Peltonen;J. Lönnqvist
目的
这项研究旨在确定，在芬兰全国范围内的同质样本中，接受精神分裂症治疗的兄弟姐妹是否比预期的更经常是同一性别，以及当这种疾病由父亲传播时是否尤其如此。
方法
芬兰的社会和健康保险文件以及医院出院登记册中搜索了30年出生队列中精神分裂症的先证者。核心家庭确定的交叉链接与国家出生登记，并观察到的性别分布在多受影响的兄弟姐妹进行了比较，预期分布的最大似然分析。
结果
在一个患有精神分裂症的父母（84名父亲和120名母亲）的多受影响的兄弟姐妹的子集中，观察到的性别分布没有偏离预期的模式。然而，在1,942个兄弟姐妹中，无论父母的感情状况如何，至少有两个受影响的成员，性别一致性出现了一个小的和轻微的显着过剩。
结论
结果表明，没有以上机会的性别一致性，在兄弟姐妹多受父系传播的精神分裂症是目前在芬兰的遗传同质的人口。鉴于一个几乎无偏的和完整的确定程序和样本量比以前的研究大一到两个数量级，作者将这种一致性的先前发现归因于采样人为因素或偶然波动，并最终得出结论，除了区域遗传分离株，没有流行病学证据表明，在更大比例的病例中，性染色体的假常染色体区域。
OBJECTIVE
This study set out to determine, in a homogeneous sample with nationwide coverage in Finland, whether siblings treated for schizophrenia are more often of the same sex than expected by chance, and whether this is especially so when the disorder is transmitted by their fathers.
METHOD
Finnish social and health insurance files as well as hospital discharge registers were searched for probands with schizophrenia from a birth cohort spanning 30 years. Nuclear families were identified by cross-linkage with the national birth register, and the sex distribution observed in multiply affected sibships was compared with expected distributions by maximum likelihood analysis.
RESULTS
In the subset of multiply affected sibships with one parent who had schizophrenia (84 fathers and 120 mothers), the observed sex distribution did not deviate from the expected pattern. However, a small and marginally significant excess of sex concordance emerged from the total sample of 1,942 sibships in which there were at least two affected members, irrespective of the parents' affection status.
CONCLUSIONS
The results indicate that no above-chance sex concordance in sibships multiply affected with paternally transmitted schizophrenia is present in the genetically homogeneous population of Finland. In view of a virtually unbiased and complete ascertainment procedure and sample sizes one to two orders of magnitude larger than those in previous studies, the authors attribute prior findings of such a concordance to sampling artifacts or chance fluctuations and finally conclude that except for regional genetic isolates, there is no epidemiologic evidence that a gene accounting for substantial susceptibility to schizophrenia in a greater proportion of cases resides in the pseudoautosomal region of the sex chromosomes.
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DOI：
10.1002/ajmg.1320180117
发表时间：
1984-05
期刊：
American journal of medical genetics
影响因子：
--
作者：
B. Suarez;P. van Eerdewegh
通讯作者：
B. Suarez;P. van Eerdewegh
12 个家系中排除了精神分裂症的伪常染色体位点。
影响因子：
--
作者：
Wang,ZW;Black,D;Andreasen,N;Crowe,RR
通讯作者：
Crowe,RR
影响因子：
6.6
作者：
DELISI, LE;FRIEDRICH, U;CROW, TJ
通讯作者：
CROW, TJ
丹麦精神分裂症收养研究省级和国家样本中 DSM-III 定义的被收养者和亲属的独立诊断。
影响因子：
--
作者：
Kendler,KS;Gruenberg,AM;Kinney,DK
通讯作者：
Kinney,DK
罗斯康芒家庭研究。
影响因子：
--
作者：
Kendler,KS;McGuire,M;Gruenberg,AM;O'Hare,A;Spellman,M;Walsh,D
通讯作者：
Walsh,D