Ramegowda Smitha, Ramachandra Nallur B
Department of Studies in Zoology, Human Genetics Laboratory, University of Mysore, Mysore, India.
Ann Hum Biol. 2006 Sep-Dec;33(5-6):519-28. doi: 10.1080/03014460600909349.
Congenital heart diseases (CHDs) are the commonest single group of congenital abnormalities with a prevalence ranging from 1.0 to 50.89 per 1000 live births in the world population including India, whereas Mysore has a prevalence of 11.08 per 1000 live births. One of the risk factors for the occurrence of CHDs is parental consanguinity, in particular first-cousin marriage between parents.
The present study examined the role of consanguineous marriages in causing CHDs in Mysore, South India.
A total of 144 confirmed CHD cases with an age range of 1 day to 23 years and a control group of 200 families from different localities of Mysore city were considered for the present study. Methods included the establishment of a genetic register and pedigree analysis followed by statistical analysis by logistic regression.
The findings revealed that first-cousin marriages (44.68%) and uncle-niece marriages (46.81%) are equally significant in increasing CHDs. The subtypes of CHDs associated with consanguinity were found to be atrial septal defect (ASD) and patent ductus arteriosus (PDA). These findings emphasize the important role played by segregation of recessive genes in the offspring resulting in the causation of CHDs.
Therefore, for every incidence of parental consanguinity, the risk (odds) of birth of a child with CHD increases. There is an urgent need to educate the public on the deleterious effects of inbreeding, especially in India, which has high overall consanguinity.
先天性心脏病(CHD)是最常见的单一先天性异常类型,在包括印度在内的世界人口中,其患病率为每1000例活产中有1.0至50.89例,而迈索尔地区的患病率为每1000例活产中有11.08例。先天性心脏病发生的危险因素之一是父母近亲结婚,尤其是父母为近亲结婚。
本研究探讨近亲结婚在印度南部迈索尔地区导致先天性心脏病中的作用。
本研究纳入了144例确诊的先天性心脏病病例,年龄范围为1天至23岁,并选取了来自迈索尔市不同地区的200个家庭作为对照组。方法包括建立遗传登记册和系谱分析,随后进行逻辑回归统计分析。
研究结果显示,近亲结婚(44.68%)和叔侄结婚(46.81%)在增加先天性心脏病发生率方面同样显著。与近亲结婚相关的先天性心脏病亚型为房间隔缺损(ASD)和动脉导管未闭(PDA)。这些发现强调了隐性基因在后代中的分离在导致先天性心脏病方面所起的重要作用。
因此,每发生一次父母近亲结婚,孩子患先天性心脏病的风险(几率)就会增加。迫切需要对公众进行近亲繁殖有害影响的教育,尤其是在印度,该国总体近亲结婚率较高。