AVAILABILITY OF TYPE-II DIABETIC FAMILIES FOR DETECTION OF DIABETES SUSCEPTIBILITY GENES
AVAILABILITY OF TYPE-II DIABETIC FAMILIES FOR DETECTION OF DIABETES SUSCEPTIBILITY GENES
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DOI：
10.2337/diabetes.42.10.1536
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发表时间：
1993-10-01
期刊：
影响因子：
7.7
通讯作者：
TURNER, RC
中科院分区：
文献类型：
--
作者：
COOK, JTE;PAGE, RCL;TURNER, RC
2型糖尿病是一种家族性疾病，在同卵双胞胎和患病对象的一级亲属中患病率增加就是证据；然而，其遗传病因在很大程度上是未知的。家谱是研究2型糖尿病易感基因的重要资源。本研究描述了对英国牛津郡II型糖尿病家庭的5年搜索。我们采访了950名II型糖尿病患者，了解其一级亲属的可用性；研究了127个通过先证确定患有II型糖尿病的白人家庭，其中589人具有一级亲属特征。3个大家系为年轻的成熟型糖尿病，8个多重多代型2型糖尿病家系。我们确定了12对兄弟姐妹，其中兄弟姐妹都患有II型糖尿病；然而，只有7对兄弟姐妹的父母都在世，其中2对父母都受到影响。如果一个人认为一个兄弟姐妹患有糖尿病，一个兄弟姐妹患有葡萄糖耐受不良，我们确定了30对兄弟姐妹，其中7对父母双方都患有糖尿病，可能有双系遗传。我们确定了76个完整的核心家庭，父母和后代都可供研究，但只有6个是最优结构进行连锁分析。总之，多重家系和有在世父母的2型糖尿病兄弟姐妹并不常见，确定它们需要大量的资源投入。需要大规模的多中心合作计划来收集大量的家族材料资源，用于II型糖尿病易感基因的研究。
Type II diabetes is a familial disorder, as evidenced by the increased prevalence in monozygotic cotwins and first-degree relatives of affected subjects; however, its genetic etiology is largely unknown. Well-characterized pedigrees are an essential resource for the study of susceptibility genes for type II diabetes. This study describes a 5-yr search for type II diabetic families in Oxfordshire, U.K. We interviewed 950 type II diabetic subjects concerning the availability of first-degree relatives; 127 Caucasian families ascertained through a proband with type II diabetes were studied, and 589 first-degree relatives were characterized. Three large pedigrees with maturity-onset diabetes of the young, and 8 multiplex multigenerational type II diabetic pedigrees were identified. We identified 12 sib-pairs in which both siblings had type II diabetes; however, only 7 sib-pairs had both parents alive, and 2 of these had both parents affected. If one also considers one sib having diabetes and one sib having glucose intolerance as being an affected sib-pair, we identified 30 sib-pairs of which 7 had both parents affected and probably had bilineal inheritance. We identified 76 complete nuclear families with both parents and offspring available for study, but only 6 were of optimal structure for linkage analysis. In conclusion, multiplex pedigrees and type II diabetic sib-pairs with living parents are uncommon, and their ascertainment requires a substantial investment of resources. Large-scale collaborative multicenter initiatives would be needed to collect a large resource of family material for the study of susceptibility genes for type II diabetes.