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胃癌的遗传病因学:II. 胃内酸碱度、硝酸盐及亚硝酸盐的分离分析

Genetic etiology of gastric carcinoma: II. Segregation analysis of gastric pH, nitrate, and nitrite.

作者信息

Bonney G E, Elston R C, Correa P, Tannenbaum S R, Haenszel W, Zavala D E, Fontham E, Zarama G, Gordillo G, Cuello C

出版信息

Genet Epidemiol. 1987;4(2):103-14. doi: 10.1002/gepi.1370040205.

Abstract

A study of gastric pH, nitrate, and nitrite in 110 families collected as part of a cohort from the Narino region of Colombia is presented. All three traits are familial and have a significant linearly increasing age trend. Gastric pH has a clear bimodal distribution but does not show Mendelian segregation. The nitrate distribution is slightly skewed, but generational heterogeneity explains the data best. Gastric nitrite is also biomodal with a clear break at concentration 1.08 micrograms/ml, and 74% of the observations at zero concentration; it shows a recessive Mendelian segregation with significant residual spouse correlation. This model also fits the data best when nitrite is dichotomized into detected (measurable) and undetected values. The estimated frequency of the recessive allele is .57, so that an estimated 32% of the population sampled are recessives. Recessives whose spouses have measurable nitrite have an estimated penetrance of 99.3% at age 30 years, whereas those whose spouses have zero or undetected nitrite have a penetrance of only 8.8% at age 30 years. It appears that gastric nitrite, and, from our previous study of these families, chronic atrophic gastritis are important biologic markers for the early identification of persons predisposed to gastric cancer.

摘要

本文介绍了一项对来自哥伦比亚纳里尼奥地区的110个家庭队列中胃pH值、硝酸盐和亚硝酸盐的研究。这三个性状都具有家族性,且年龄趋势呈显著线性增加。胃pH值有明显的双峰分布,但不显示孟德尔分离现象。硝酸盐分布略有偏态,但世代异质性最能解释该数据。胃亚硝酸盐也是双峰的,在浓度为1.08微克/毫升时出现明显断点,74%的观测值浓度为零;它显示出隐性孟德尔分离,配偶间存在显著的剩余相关性。当将亚硝酸盐分为检测到(可测量)和未检测到的值时,该模型也最适合数据。隐性等位基因的估计频率为0.57,因此估计抽样人群中有32%为隐性纯合子。配偶亚硝酸盐可测量的隐性纯合子在30岁时的估计外显率为99.3%,而配偶亚硝酸盐为零或未检测到的隐性纯合子在30岁时的外显率仅为8.8%。看来胃亚硝酸盐,以及根据我们之前对这些家庭的研究,慢性萎缩性胃炎是早期识别易患胃癌人群的重要生物学标志物。

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