印度载脂蛋白H（β2糖蛋白I）多态性的遗传学

Genetics of apolipoprotein H (beta2-glycoprotein I) polymorphism in India.

作者信息

Singh P, Singh M, Mastana S S

机构信息

Department of Human Biology, Punjabi University, Patiala, India.

出版信息

Ann Hum Biol. 2002 May-Jun;29(3):247-55. doi: 10.1080/03014460110075710.

DOI:10.1080/03014460110075710

PMID:12031135

Abstract

BACKGROUND

Human apolipoprotein H (beta(2)-glycoprotein I, apoH, protein; APOH, gene) is a single-chain glycoprotein that has been implicated in several metabolic pathways, including lipid metabolism, coagulation and production of antiphospholipid antibodies and many disease phenotypes. The structural, molecular and genetic bases of APOH have been studied in detail but population studies, especially from the Indian subcontinent, are limited.

OBJECTIVE

This study seeks to enlarge our understanding of APOH genetic diversity in human populations from different regions and social groups of India. Also, we examine the level and extent of genetic variation at this locus in world populations and its utility as a population genetic marker.

SUBJECTS AND METHODS

Blood samples from 1381 unrelated and randomly selected individuals were screened for APOH genetic polymorphism. Eleven populations from North India (Brahmins, Banias, Jat Sikhs, Khatris, Scheduled Castes, Lobanas and Rajputs), West India (Brahmin and Patels) and Central India (Brahmins and Baiga tribe) were studied for APOH polymorphism using isoelectric focusing. Allele frequencies were calculated by the gene counting method. The results were statistically evaluated using chi-square statistics for regional and ethnic variation. Genetic distances were computed on Indian populations to determine the population affinities. Correspondence analysis was used to assess ethnic variation in world populations.

RESULTS

An interesting and wide genetic variation at this locus was observed in Indian populations. The frequency distribution of three observed alleles ranged from 0.034 to 0.091 for APOH1, 0.852 to 0.917 for APOH2 and 0.027 to 0.075 for APOH3. The world's highest APOH2 allele frequency was observed in the Patel (0.917) caste group from West India.

CONCLUSIONS

Overall, the observed variation at this locus in Indian populations is comparable to many Caucasian populations. An analysis of world populations showed that APOH is a useful genetic marker for population and anthropological studies.

摘要

背景

人载脂蛋白H（β2 - 糖蛋白I，载脂蛋白H，蛋白质；APOH，基因）是一种单链糖蛋白，参与多种代谢途径，包括脂质代谢、凝血、抗磷脂抗体的产生以及许多疾病表型。APOH的结构、分子和遗传基础已得到详细研究，但人群研究，尤其是来自印度次大陆的研究有限。

目的

本研究旨在加深我们对印度不同地区和社会群体人群中APOH基因多样性的理解。此外，我们研究了该位点在世界人群中的遗传变异水平和程度及其作为群体遗传标记的效用。

对象与方法

对1381名无关且随机选取个体的血样进行APOH基因多态性筛查。使用等电聚焦法研究了来自印度北部（婆罗门、班尼亚斯、贾特锡克教徒、卡特里人、在册种姓、洛巴纳斯人和拉杰普特人）、西部（婆罗门和帕特尔人）和中部（婆罗门和拜加部落）的11个人群的APOH多态性。通过基因计数法计算等位基因频率。使用卡方统计对区域和种族变异进行统计学评估。计算印度人群的遗传距离以确定人群亲缘关系。使用对应分析评估世界人群中的种族变异。