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Objectives: To study the effect Adenosine Deaminase locus 1 (ADA1) mother-fetus and wife-husband phenotypic differences on the ratio Birth Weight/Placental Weight (BW/PW) in fertile women and on reproductive success in couples with repeated spontaneous abortion (RSA). Methods: 209 couples with primary RSA and a consecutive series of 379 healthy puerperae with their newborn infants from the White Caucasian population of central Italy were studied. In primary RSA women reproductive success was indicated by the presence of at least one live-born infant within 5 years of follow up. Two way contingency tables were analyzed by chi-square. Results: The proportion of primary RSA couples with at least a live-born infant shows the highest value in couples mother ADA11/father carrier of ADA1*2 allele (55.2%) and the lowest value in reciprocal couples mother carrier of ADA1*2 allele /father ADA11 (18.7 %) (O.R. = 5.33; P = 0.023). The highest ratio BW/PW is observed in the class mother ADA11/newborn carrier of ADA1*2 allele while the lowest ratio is observed in the reciprocal class mother carrier of ADA1*2 allele/ newborn ADA11. Conclusions: Differences between mother and fetus in ADA1 phenotype may influence the ratio BW/PW in healthy women and reproductive success in RSA women. Am. J. Hum. Biol., 2012. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Abstract: The disturbing results of recent clinical trials aimed to control cardiovascular risk of diabetes by aggressive control of blood glucose prompted us to analyze the effect of genetic variability of 2 polymorphic enzymes abundant in red blood cells on the correlation between blood glucose and glycated hemoglobin (Hb). Two hundred eighty subjects with type 2 diabetes mellitus were studied. Adenylate kinase locus 1 (AK1) and acid phosphatase locus 1 were determined. Correlation between blood glucose and glycated Hb was determined for phenotypes of the 2 systems. The correlation between blood glucose and glycated Hb is higher in carriers of AK1*2 allele than in subjects with AK11 phenotype. The highest coefficient is observed in acid phosphatase locus 1 phenotypes with the highest enzymatic activity; and the lowest, in phenotypes with the lowest activity. Effects of sex, blood glucose level, age, age at onset, and duration of disease have been also considered. Our data are in agreement with recent observation in healthy subjects suggesting a role of genetic factors on glycated Hb level. If glycation of structural and functional protein is dependent not only on blood glucose level but also on genetic factors, these factors could have an important role in the susceptibility and clinical course of diabetes. [ABSTRACT FROM AUTHOR]

FUT2 is an autosomal gene that controls the secretion of the ABH blood group antigens in organic fluids. The secretor gene plays an important role during intrauterine life. The aim of this study is to investigate a possible association between the ABH system and reproductive success in couples with primary repeated spontaneous abortion (RSA). Sixty-six couples with primary repeated spontaneous abortion and 356 consecutive healthy puerperae with their newborn infants from the white population of Rome were studied. All couples were seen at the Center for Reproductive Disorders of the Institute of Obstetrics and Gynecology of the University of Rome, La Sapienza. Secretor phenotype was determined by saliva in all subjects by laboratory standard procedures. In couples with primary RSA, the frequency of non-secretor phenotype of both husbands and wives (37.9%) were significantly higher than those of newborns from other couples (21.4% for male newborns and 29.4% for female newborns). In husbands, but not in wives, of the couples with primary RSA succeeding in having at least a live born infant after 5 years of follow up, the frequency of non-secretor phenotype was significantly lower than those without a liveborn infant (22.8% vs 54.8%). The presence of joint secretor phenotype in both husband and wife was positively associated with having a liveborn infant after 5 years of follow up (odds ratio = 4.57, 95% C.I.1.39-15.6). Secretor phenotype of couples with RSA, especially of the husband, could facilitate 'reproductive success'. [ABSTRACT FROM AUTHOR]

In 155 asthmatic children we have studied the relationship between prick test positivity and a set of genetic factors previously found to be associated with bronchial asthma. Among these factors, MN system (p = 0.009) and age at onset of symptoms (p = 0.05) are the most important variables separating prick test negative from prick test positive children. MN and age at onset influence independently prick test positivity pointing to an additive effect of the two variables. M phenotype appears correlated positively with an increased susceptibility to nonallergic asthma in all age groups, whereas N phenotype appears correlated positively with age at onset but in allergic asthma only. The MN system codifies for glycophorin A, a sialoglycoprotein that represents a major ligand for several bacteria and viruses that recognize the N-acetylneuraminic acid present in this protein. The present data suggest that genetic variability in this system might influence bacterial and viral competition and mucosal damage influencing susceptibility to asthmatic reactions in absence of IgE hyperproduction. [ABSTRACT FROM AUTHOR]

Investigates the association of RhE phenotype with placental weight and birth weight in normal pregnancy. Pattern of relationship in diabetic pregnancy; Increase in correlation between birth weight and placental weight with respect to the dose of alleles.

Background: Previous studies suggest that adenylate kinase locus 1 (Ak1) has an important role in the control of blood glucose level and in the glycation of structural and functional proteins in type 2 diabetes and in the balanced development of fetoplacental unit in healthy puerperae (HP). In this study, an attempt was made to investigate the relationship of Ak1 with maternal and neonatal parameters in puerperae with gestational diabetes (GDP) and with preexisting type 1 diabetes (T1DP). Methods: This study was carried on 402 HP, 347 consecutive healthy newborns, 102 GDP and 111 T1DP with their newborn infants. Ak1 phenotype was determined by starch gel electrophoresis. Chi-square test of independence was carried out by SPSS program. The analysis of three way contingency table was carried out by a loglinear model. Significant level was 0.05. Results: In T1DP, the frequency of Ak1*2 allele was higher than in GDP and in HP. Serum glucose level was higher in T1DP than in GDP with higher values in carriers of Ak1*2 allele. Neonatal hypoglycemia was more frequent in T1DP than in GDP with a positive association with Ak1*2 allele. The correlation between birth weight (BW) and placental weight (PW) was lower in infants from T1DP than HP. In healthy puerperae the correlation is higher in Ak1 2-1 than in Ak11 phenotype while in diabetic puerperae the pattern is reversed with lower values in Ak12-1 than in Ak11 phenotype. The lowest value of correlation is observed in infants from T1D mothers carrying the Ak1*2 allele. Conclusion: The data confirmed the involvement of Ak1 in glucose metabolism and showed a disturbance of the balance between placental and fetal growth which was more marked in T1DP. [ABSTRACT FROM AUTHOR]