剥脱综合征：芬兰人群一个亚隔离群体中的患病率及遗传情况

Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population.

作者信息

Forsman Eva, Cantor Rita M, Lu Ake, Eriksson Aldur, Fellman Johan, Järvelä Irma, Forsius Henrik

机构信息

Population Genetics Unit, Folkhälsan Institute of Genetics, Helsinki, Finland.

出版信息

Acta Ophthalmol Scand. 2007 Aug;85(5):500-7. doi: 10.1111/j.1600-0420.2007.00978.x.

DOI:10.1111/j.1600-0420.2007.00978.x

PMID:17655611

Abstract

PURPOSE

To estimate the prevalence of pseudoexfoliation syndrome or exfoliation syndrome (ES) in a cross-sectional study and during a long-term follow-up, and to analyse how ES has been inherited in a large pedigree on an isolated population of Kökar island in southern Finland.

METHODS

In a population-based study conducted between 1960 and 1962, a comprehensive ophthalmological examination was performed on 595 subjects (85% of the population). From then until 2002, 965 subjects were examined at least once. A pedigree was constructed for all ES-affected subjects according to genealogical studies. The genetic contribution to ES was investigated in this pedigree by segregation analysis and the heritability of the intraocular pressure (IOP) quantitative trait estimated using SOLAR and SAGE software.

RESULTS

In the cross-sectional study, the prevalence of ES was 8.1% for 247 subjects over 50 years of age (males 7%, females 9%) and increased to 18.4% for 70 subjects over 70 years of age (males 13%, females 25%). In addition, two females less than 50 years of age were ES-affected. Between 1960 and 2002, 76 (14.3%) of 530 subjects over 50 years of age had ES [23 males (10%) and 53 females (18%)]. Exfoliation glaucoma (EG) was found more often in males (11 patients, 48%) than in females (13 patients, 25%) whereas primary open-angle glaucoma (POAG) was almost as frequent in males (seven patients, 3%) as in females (five patients, 2%). The relative risk (RR) of glaucoma (ES versus no ES) was 11.9 [95% confidence interval (CI) 6.2-22.9] for all the subjects - 14.6 for males (95% CI 6.3-34.0) and 11.8 for females (95% CI 4.4-31.6). Seventy-five pedigrees of 78 ES-affected patients were linked together into one large pedigree with 110 nuclear families. The segregation ratio of ES was 18% (8% for males, 24% for females) when both parents were unaffected, and 16% (9% for males, 27% for females) when at least one parent was affected. The heritability of IOP was estimated to be 30%.

CONCLUSION

In this population-based family study, ES is consistent with an autosomal dominant trait with incomplete penetrance, where the penetrance is more reduced in males than in females. However, the presence of ES was a greater risk factor for developing glaucoma in males than in females.

摘要

目的

在一项横断面研究及长期随访中评估假性剥脱综合征或剥脱综合征（ES）的患病率，并分析在芬兰南部科卡尔岛的一个孤立人群的大型家系中ES是如何遗传的。

方法

在1960年至1962年进行的一项基于人群的研究中，对595名受试者（占该人群的85%）进行了全面的眼科检查。从那时起到2002年，对965名受试者至少进行了一次检查。根据家谱研究为所有受ES影响的受试者构建了一个家系。通过分离分析研究该家系中ES的遗传贡献，并使用SOLAR和SAGE软件估计眼压（IOP）数量性状的遗传力。

结果

在横断面研究中，50岁以上的247名受试者中ES的患病率为8.1%（男性7%，女性9%），70岁以上的70名受试者中患病率升至18.4%（男性13%，女性25%）。此外，两名年龄小于50岁的女性受ES影响。在1960年至2002年期间，530名50岁以上的受试者中有76名（14.3%）患有ES[23名男性（10%）和53名女性（18%）]。剥脱性青光眼（EG）在男性中（11例患者，48%）比在女性中（13例患者，25%）更常见，而原发性开角型青光眼（POAG）在男性中（7例患者，3%）与在女性中（5例患者，2%）几乎一样常见。所有受试者中青光眼（ES与无ES相比）的相对风险（RR）为11.9[95%置信区间（CI）6.2 - 22.9]——男性为14.6（95%CI 6.3 - 34.0），女性为11.8（95%CI 4.4 - 31.6）。78名受ES影响患者的75个家系被连接成一个包含110个核心家庭的大型家系。当父母双方均未受影响时，ES的分离比例为18%（男性8%，女性24%），当至少一方父母受影响时，分离比例为16%（男性9%，女性27%）。IOP的遗传力估计为30%。