FABP9 mutations are not detected in cases of infertility due to sperm morphological defects in Iranian men

Fatty acid binding proteins [FABPs] are members of the intracellular lipid binding protein [iLBPs] family and most of them show tissue specific expression. FABP9/PERF15 [Perforatorial15] is the male germ cell-specific fatty acid-binding protein. It was first identified as the major constituent of the murine sperm perforatorium and perinuclear theca. To date, investigations in mice have demonstrated that this protein has a role in the male reproductive system, especially in spermatogenesis. Also, it has been reported that FABP9 can protect sperm fatty acids from oxidative damage. Recently it was shown that it can affect sperm morphology in mice. Based on these findings, we designed a study to evaluate if mutations of this gene can affect sperm morphology in humans. In this case-control study, DNA was extracted from peripheral blood of 100 infertile males with normal sperm count but with a number of morphologically abnormal sperms in their semen that was above normal. Four exons and one intron of the FABP9 gene were amplified by polymerase chain reaction [PCR], re-sequenced and then analyzed for mutation detection. We did not detect any mutation in any area of the four exons, intron 3 and splice sites of FABP9 gene in any of the studied 100 samples. There was no mutation in the exonic regions and the poor sperm morphology. However, we didn't analyze the promoter, intron 1 and 2 to establish conclusions regarding the association of these genic regions and sperm dysmorphology

Association between vitamin D receptor gene BsmI polymorphism and bone mineral density in a population of 146 Iranian women

Osteoporosis is a bone disorder that reduces bone mineral density [BMD] and leads to bone fracture. In addition to different factors, gene polymorphisms have been revealed to be associated with osteoporosis. In this study, we investigated the association between the BsmI polymorphism of vitamin D receptor [VDR] gene [rs1544410] and BMD in a population of Iranian women. In this case control study, clinical risk factors for osteoporosis were obtained from the participants through a questionnaire for a case-control study. The World Health Organisation [WHO] criteria were applied for the diagnosis of the disease. Peripheral blood samples were obtained from 146 pre- and or postmenopausal Iranian women aged between 35 and 71 years [53.53 +/- 9.8]. The study population was classified for BMD into normal and osteoporotic groups, who matched for age, pregnancy status, menstrual condition, and body mass index [BMI]. The BMD of the lumbar spine [L1-4] and femoral neck was measured. Polymerase chain reaction restriction fragment length polymorphism [PCR-RFLP] was performed to detect and analyze the genotype. The frequencies of AA and GG were significantly different between the two groups [p value<0.05], with the first genotype being higher in the patients and the second being higher in the normal group. The GG genotype was significantly associated with increased BMD in the lumbar spine [p value<0.05] but non-significant in the femoral neck [p value>0.05]. BsmI polymorphism of VDR gene has a significant association with BMD in the lumbar spine and may have a minor effect on the proximal femur BMD in Iranian women