Duggleby W F, Stoll H, Priore R L, Greenwald P, Graham S
Am J Epidemiol. 1981 Jul;114(1):63-72. doi: 10.1093/oxfordjournals.aje.a113175.
A total of 214 melanoma patients and 193 age- and sex-matched controls, interviewed at the Roswell Park Memorial Institute during the years 1974--1978, provided information regarding 1134 and 1043 New York State first order relatives (parents, offspring and siblings). The vital information provided was checked against the records of the New York State Tumor Registry to find cases of melanoma among relatives. Five cases of melanoma were found among the 1027 New York State relatives of melanoma index cases alive during the period 1949--1978, inclusive. No cases of melanoma were found among New York State relatives of controls. The expected number of melanomas among a cohort of relatives of identical sex and age composition for the interval was 0.625 cases, giving a ratio of observed to expected of 8.0. A similar analysis, restricted to parent-offspring pairs, yielded a ratio of observed to expected of 12.7. A search for additional melanoma cases among second degree relatives of familial index cases yielded no further affected relatives. The incidence of melanoma among relatives of melanoma cases and in a comparable general population were used to estimate the heritability of liability to melanoma as a polygenic trait. A heritability estimate of 0.49 was obtained, using parent-offspring data, indicating that nearly half of the variability in liability to melanoma in this population may be attributed to the additive action of many genes, each with small effect. Pending the replication of these findings, the 12-fold increase in incidence of melanoma among parents and offspring of melanoma cases suggests the importance of counseling and surveillance of relatives of affected individuals by the clinician.
1974年至1978年期间，在罗斯韦尔帕克纪念研究所对214名黑色素瘤患者和193名年龄及性别匹配的对照者进行了访谈，他们提供了有关1134名和1043名纽约州一级亲属（父母、子女和兄弟姐妹）的信息。所提供的重要信息与纽约州肿瘤登记处的记录进行核对，以查找亲属中的黑色素瘤病例。在1949年至1978年（含）期间存活的黑色素瘤索引病例的1027名纽约州亲属中发现了5例黑色素瘤。在对照者的纽约州亲属中未发现黑色素瘤病例。该时间段内，具有相同性别和年龄构成的亲属队列中黑色素瘤的预期病例数为0.625例，观察值与预期值之比为8.0。一项仅限于亲子对的类似分析得出观察值与预期值之比为12.7。在家族性索引病例的二级亲属中寻找其他黑色素瘤病例，未发现更多受影响的亲属。利用黑色素瘤病例亲属和可比的普通人群中黑色素瘤的发病率来估计黑色素瘤易感性作为一种多基因性状的遗传度。利用亲子数据获得的遗传度估计值为0.49，这表明该人群中黑色素瘤易感性的近一半变异可能归因于许多基因的加性作用，每个基因的作用较小。在这些发现得到重复验证之前，黑色素瘤病例的父母和子女中黑色素瘤发病率增加12倍，提示临床医生对受影响个体的亲属进行咨询和监测的重要性。
