• PMID: 19578130
• Gene Name: apoB
• Condition: Male infertility
• Association: The study concludes that the APOB gene deletion polymorphism is not a risk factor for the development of infertility in Indian men
• Mutation: 3-codon deletion polymorphism (rs11279109) in the signal peptide region of the APOB gene
• Population size: 545
• Population details: 545 (294 infertile, 251 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

APOB gene signal peptide deletion polymorphism is not associated with infertility in Indian men

Khattri A, Pandey RK, Gupta NJ, Chakravarty B, Deenadayal M, Singh L, Thangaraj K.

Apolipoprotein B (APOB) plays a key role in lipoprotein metabolism and plasma lipid transport. It has been shown that about two-thirds of male mice heterozygous for ApoB were infertile. Moreover, a 3-codon deletion polymorphism (rs11279109) in the signal peptide region of the APOB gene has been shown to be a risk factor for infertility in Slovenian men, but its association with infertility in Indian men has not been evaluated to date. Hence, in the present study, we have genotyped this polymorphism in 545 Indian men, including 294 infertile and 251 fertile men. Our results show that the distribution of this deletion polymorphism was consistent with the Hardy-Weinberg equilibrium in both infertile and fertile men. No statistically significant difference was observed in the distribution of the APOB signal peptide deletion polymorphism between infertile and fertile men (chi(2) = 0.156, P = .925 for genotypes; chi(2) = 0.015, P = .903 for alleles). Moreover, no significant difference was observed when infertile and fertile men were categorized on the basis of presence (D/D and D/W genotypes) or absence (W/W genotypes) of deletion (odds ratio, 0.955; 95% confidence interval, 0.644-01.418; P = .820). Our study concludes that the APOB gene deletion polymorphism is not a risk factor for the development of infertility in Indian men. FAU - Khattri, Arun AU - Khattri A AD - Centre for Cellular and Molecular Biology, Uppal Rd, Hyderabad, India. FAU - Pandey, Rajeev K AU - Pandey RK FAU - Gupta, Nalini J AU - Gupta NJ FAU - Chakravarty, Baidyanath AU - Chakravarty B FAU - Deenadayal, Mamta AU - Deenadayal M FAU - Singh, Lalji AU - Singh L