Association of the P561T and C422F polymorphisms of the growth hormone receptor gene with facial dimensions / Asociación de los polimorfismos P561T y C422F del gen receptor de la hormona del crecimiento con dimensiones faciales

Background: Growth hormone plays a significant role in determining craniofacial morphology. Mutations of its receptor gene might be associated with mandibular prognathism (MP). Purpose: The aim of the current study was to evaluate growth hormone receptor (GHR) gene polymorphisms in relation to facial dimensions. Material and Method: The study enrolled 65 participants with class III profile in MP group and 60 orthognathic control participants. Genomic DNA was extracted from a blood sample from the patients and the P561T and C422F polymorphisms of GHR gene were screened by PCR-RFLP method followed by Sanger sequencing of randomly selected samples to validate the genotyping results. Chi square was used to compare distribution of polymorphism in MP and control groups (p<0.05). Results: Heterozygous P561T mutation was found in 10.77% and 8.33% of MP and control groups, respectively (p=0.644) while none of the subjects had the C422F mutation. Sanger sequencing confirmed the genotyping results from the PCR-RFLP method. P561T polymorphism was significantly associated with ramus and lower facial height in MP patients and with ramus height in orthognathic patients (p<0.05). Conclusion: The results indicate that the P561T polymorphism of the GHR gene is associated with the vertical dimension of the mandible in an Iranian population.

Antecedentes: La hormona del crecimiento desempeña un papel importante en la determinación de la morfología craneofacial. Las mutaciones de su gen receptor podrían estar asociadas con el prognatismo mandibular (PM). Propósito: El objetivo del presente estudio fue evaluar dos polimorfismos del gen del receptor de la hormona del crecimiento (RHC) en relación con las dimensiones faciales. Materiales y Métodos: El estudio incluyó a 65 participantes con perfil de clase III en el grupo MP y 60 participantes de control ortognático. El ADN genómico se extrajo de una muestra de sangre de los pacientes y los polimorfismos P561T y C422F del gen RHC se seleccionaron mediante el método PCR-RFLP seguido de la secuenciación por Sanger de muestras seleccionadas al azar para validar los resultados del genotipo por RFLP. El test chi cuadrado se utilizó para comparar la distribución del polimorfismo en el grupo MP y grupo control (p<0.05). Resultados: Se encontró mutación heterocigota P561T en 10.77% y 8.33% de los grupos PM y control, respectivamente (p=0.644) mientras que ninguno de los sujetos tenía la mutación C422F. La secuenciación de Sanger confirmó los resultados de genotipado por el método PCR-RFLP. El polimorfismo P561T se asoció significativamente con la rama y la altura facial más baja en pacientes con PM y con la altura de la rama en pacientes ortognáticos (p<0.05). Conclusión: Los resultados indican que el polimorfismo P561T del gen RHC está asociado con la dimensión vertical de la mandíbula en una población iraní.

Ethnic difference in brain weight of 17-20 year-old males in Northern Iran / Diferencias étnicas en el peso del cerebro en hombres de 17 a 20 años de edad del norte de Irán

Cranial capacity and brain weight are important measurements in the study of racial/ethnic differences. Using linear (Lee­Pearson's) formula, brain weight and cranial capacity were estimated in 398 normal 17 to 20-year-old males (200 native Fars and 198 Turkman) males in Northern Iran. The dimensions of the head measured with spreading caliper and auricular head spanner. The mean±S.D of brain weight and cranial capacity in native Fars males were 1343.45±102.37 cm3, and 1390.47±105.95 g, and that of Turkmans were 1163.02±115.76 cm3 and 1203.73±119.81 g, respectively. Cerebral Index was 3.40 ±0.37 % and 2.52 ±0.37 % in Native Fars and Turkmans, respectively and cerebral quotient was higher in Turkmans (8.34) than Native Fars males (7.95). This study showed, the effect of ethnic factor influences the brain weight of 17-20 year-old males in Northern Iran.

La capacidad craneal y el peso del cerebro son mediciones importantes en el estudio de las diferentes etnias. Se estimó el peso del cerebro y la capacidad craneal usando la fórmula lineal de Lee-Pearson, en 398 hombres de 17 a 20 años de edad (200 nativos Fars y 198 Turcomanos) en el norte de Irán. Las dimensiones de la cabeza se midieron con caliper deslizante y con una llave de Todd, para la medición auricular. La media ± D.S. del peso del cerebro y la capacidad craneal en hombres nativos Fars fue de 1343,45±102,37 cm3, y 1390,47±105,95 g, y la de los turcomanos fue de 1163,02±115,76 cm3 y 1203,73 ± 119,81 g, respectivamente. El índice cerebral fue de 3,40± 0,37 % y 2,52 ± 0,37 % en nativos Fars y turcomanos, respectivamente, y el cociente cerebral fue mayor en los turcomanos (8,34) que en los hombres Fars (7.95). Este estudio demostró que el efecto del factor étnico influye en el peso del cerebro en hombres de 17-20 años del norte de Irán.

Distribution and genotype frequency of the C1431T and pro12ala polymorphisms of the peroxisome proliferator activator receptor gamma gene in an Iranian population.

BACKGROUND: Peroxisome proliferator activator receptor gamma (PPARγ) is a nuclear transcription factor regulating multiple genes involved in cell growth, differentiation, carbohydrate and lipid metabolism and energy production. Several genetic variations in the PPARγ gene have been identified to be associated with diabetes, obesity, dyslipidemia, insulin resistance, metabolic syndrome and coronary artery disease. The present study was designed to explore the distribution of two common single nucleotide polymorphisms of the PPARγ gene (C1431T and Pro12Ala) in an Iranian population. MATERIALS AND METHODS: Genotype frequencies for these two polymorphisms were compared for 160 healthy Iranian individuals with reports from other populations. The Genotyping was performed using real‑time polymerase chain reaction. RESULTS: The genotype distribution of the C1431T PPARγ polymorphism was 0.869 for the CC genotype, 0.119 for the CT genotype and 0.013 for uncommon TT genotype. Allelic frequencies were 0.93 for C and 0.07 for T allele respectively. For the Pro12Ala polymorphism of PPARγ gene, genotypic distributions and allelic frequencies were, 0.813 for CC, 0.181 for CG and 0.06 for GG and 0.903 for C and 0.097 for G respectively. Allelic and genotypic frequencies for both polymorphisms of PPARγ gene were in Hardy‑Weinberg equilibrium. CONCLUSIONS: Iran is a country with an ethnically diverse population and a comparison of allelic and genotypic frequencies of PPARγ C1431T and Pro12Ala polymorphisms between our population and others showed significant differences.

Protein tyrosine phosphatase non-receptor type 22 gene polymorphism C1858T is not associated with leprosy in Azerbaijan, Northwest Iran.

BACKGROUND: Leprosy (Hansen’s disease) is a human chronic granulomatous infectious disease caused by Mycobacterium leprae. Several types of study support a role for host genetics in susceptibility to leprosy. The protein tyrosine phosphatase non‑receptor type 22 (PTPN22) gene encodes an intracellular lymphoid protein tyrosine phosphatase that has been shown to play a negative regulatory role in T‑cell activation. AIMS: The aim of the present study was to find out associating the PTPN22 C1858T (R620W) polymorphism and leprosy in the Azeri population from Northwest Iran. MATERIALS AND METHODS: A total of 153 treated leprosy patients and 197 healthy and ethnic matched controls entered this study. We used restriction fragment length polymorphism method to type PTPN22 C1858T polymorphism. RESULTS: There was no significant difference in distribution of genotype and allele frequencies of PTPN22 C1858T polymorphism between leprosy patients and controls (P = 0.641 and 0.645; respectively). Moreover, there was no significant association between different clinical findings (karnofsky performance status score, clinical forms and manifestations of leprosy) and PTPN22 C1858T polymorphism. Data showed a low frequency of the minor (T) allele by 2.3% in leprosy and 1.5% in healthy individuals. CONCLUSIONS: The PTPN22 C1858T (R620W) is not relevant in susceptibility to leprosy in the Azeri population of Northwest Iran.

Valores de referência para espirometria em adultos saudáveis na província de Mazandaran, Irã / Spirometric reference values for healthy adults in the Mazandaran province of Iran

OBJETIVO:Um dos maiores problemas no uso da espirometria é a avaliação dos valores obtidos em comparação a valores de referência padronizados. Tais valores de referência devem ser determinados pelo estudo de populações semelhantes àquelas que se deseja utilizar. Considerando as diferenças antropométricas entre raças e o efeito de variáveis regionais, como clima e qualidade do ar, recomenda-se que esses padrões sejam definidos e utilizados regionalmente. O objetivo deste estudo foi medir os valores espirométricos em residentes da província de Mazandaran, no Irã; determinar quais valores de referência padronizados se correlacionam de forma mais próxima aos valores obtidos; e produzir equações preditivas para a população alvo. MÉTODOS: Estudo transversal com 1.499 voluntários, dos quais dados demográficos e antropométricos foram coletados. Após terem sido instruídos quanto ao procedimento adequado, cada voluntário foi submetido à espirometria, sendo obtidas três curvas espirométricas de acordo com os critérios de aceitabilidade da American Thoracic Society. O teste com os maiores valores de VEF1 e CVF foram utilizados na análise. RESULTADOS: Houve correlações significativas entre os valores medidos e os valores de referência em ambos os gêneros. As correlações mais fortes ocorreram com os valores de referência da European Respiratory Society e com a faixa etária de 18-20 anos. As equações preditivas produzidas basearam-se nos coeficientes de regressão obtidos e nos dados demográficos coletados. CONCLUSÕES: Nossos resultados mostram que os valores de referência da European Respiratory Society são os mais apropriados para a população estudada.

OBJECTIVE: One of the major issues in the use of spirometry is the evaluation of the values obtained in comparison with standardized reference values. Such reference values should be determined by studying populations similar to the population in which they are intended to be used. Considering the anthropometric differences among races and the effect of regional issues, such as climate and air quality, it is recommended that these standards be set and used regionally. The objective of this study was to measure the spirometric values in residents of the Mazandaran province in Iran, as well as to determine which standardized reference values most closely correlate with the values obtained and to devise predictive equations for the target population. METHODS: This was a cross-sectional study of 1,499 volunteers, from whom demographic and anthropometric data were collected. After having been instructed in the correct procedure, each volunteer underwent spirometry. From each volunteer, we obtained three spirometry curves that met the acceptability criteria established by the American Thoracic Society. The test with the highest values of FEV1 and FVC was employed in the analysis. RESULTS: We observed significant correlations between the measured values and the reference values, for both genders. The strongest correlations were with the European Respiratory Society reference values and with the 18-20 year age bracket. The predictive equations devised were based on the regression coefficients obtained and the demographic data collected. CONCLUSIONS: Our results show that the European Respiratory Society standard is the most appropriate standard for use in the population studied.

Comparison of the cranial capacity and brain weight of Arak (Central Iran) with other subgroups of Iranian population / Comparación de la capacidad craneana y el peso del cerebro de Arak (Irán Central) con otros subgrupos de la población iraní

Newborn's body dimensions such as brain weight and cranial capacity can be basis for all changes in anthropometric indices and later problems. This study is undertaken on 978 term-born normal and native newborns in Thaleghany Hospital, Arak, Iran. The measurements of the heads were done according classic cephalometry. The cranial capacity and brain weight of males and female statistically evaluated by using c²- and t test and significance was set up at p<0.05. Means and SD of the cranial capacity were 606.2 +/- 26 and 440.82 +/- 28 for males and females. Means and SD of the brain weight were 627.41 +/-30 for males and 456.24 +/-32 for females. The data showed that cranial capacity and brain weight of males were greater for males than that for females. This data in accompany with other studies proves that, the manner of distribution of cranial capacity and brain weight neither is depend on the age nor the ethnicity of correspondents in Iranian population. The differences in the data of this study with other studies in Iran confirm the effect of ethnicity and environmental condition on cranial capacity and brain weight of Iranian population.

Las dimensiones corporales del recién nacido tales como el peso del cerebro y la capacidad craneal puede ser la base para todos los cambios en los índices antropométricos y problemas futuros. Este estudio se llevó a cabo en 978 recién nacidos normales en el Hospital Thaleghany, recién nacidos nativos de Arak, Irán. Las medidas de las cabezas se realizaron de acuerdo a la cefalometría clásica. La capacidad craneal y el peso del cerebro de hombres y mujeres fueron evaluados estadísticamente mediante el uso de c2 y prueba T, con un nivel de significancia de p<0,05. La media y DS de la capacidad craneal fueron 606,2 +/-26 y 440,82 +/-28 para los hombres y mujeres, respectivamente. La media y DS del peso del cerebro fueron 627,41 +/-30 g para los hombres y 456,24 +/-32 g para las mujeres. Los datos mostraron que la capacidad craneana y el peso del cerebro fue mayor en los hombres que en las mujeress. Estos datos junto con otros estudios, demuestran que la forma de distribución de la capacidad craneana y el peso del cerebro no dependen de la edad ni el origen étnico de la correspondiente población Iraní. Las diferencias en los datos de este estudio con otros estudios en Irán confirman el efecto de la etnicidad y la condición del medio ambiente en la capacidad craneana y el peso del cerebro de la población Iraní.

Absence of mutations in GJB2 (Connexin-26) gene in an ethnic group of southwest Iran.

BACKGROUND: The common GJB2 gene mutation (35delG) has been previously reported from Iranian patients that were affected with nonsyndromic autosomal recessive deafness. We, therefore, for the first time, investigated the prevalence and frequency of the GJB2 gene mutation in the Iranian deaf population with Arabian origins. MATERIALS AND METHODs: We amplified and sequenced the entire coding sequence of the GJB2 gene from 61 deaf patients and 26 control subjects. RESULT: None of the analyzed samples revealed deafness-associated mutation. CONCLUSION: This finding differs from several reports from Iran as we have focused on the GJB2 gene that possesses various mutations as the cause of congenital recessive deafness.

The effect of ethnic factor on cephalic index in 17-20 years old females of north of Iran / Efectos Beneficiosos del Bloqueador AT1 de la Angiotensina II en la Remodelación Cardiovascular Adversa Causada por el Bloqueo de la Síntesis de Óxido Nítrico

El índice cefálico y forma de la cabeza son afectados por factores geográficos, género, edad, raza y grupos étnicos. Este estudio determina el índice cefálico y la forma de la cabeza en mujeres entre 17 y 20 años de edad en Gorgan, Norte de Irán. El estudio fue realizado en 410 mujeres normales de17 a 20 años de edad (grupo Turco n=203, grupo Fars n=207) del Norte de Irán, a través de cefalometría clásica. La media y DS del índice cefálico fue 85 + - 4.5 y 82.8 + - 3.6 en nativos de los grupos Fars y Turcos, respectivamente. Tipos dominantes y raros de la forma de la cabeza en el grupo Fars fueron hiperbraquicefálico (53.6 por ciento) y dolicocefálico (15 por ciento), y en el grupo Turco fueron braquicefálico (58.1 por ciento) y dolicocefálico (0.05 por ciento), respectivamente. Estos resultados y el de otros estudios realizados en el mundo, permiten concluir la influencia que tienen los factores étnicos en las dimensiones de la cabeza.

We studied with morphological tools the effects of different doses of Losartan upon the cardiovascular remodeling in nitric oxide deficient rats. At 15 weeks of age, thirty Wistar rats were separated in six groups: control (C), L-NAME (LN), and four groups were LN was given plus Losartan at different doses (1, 5, 20 and 40 mg/kg/day). The L-NAME was given for 9 weeks, the Losartan administration starting on the 2nd week of experiment. We studied the heart, thoracic aorta and superior mesenteric artery with light microscopy and stereology. The blood pressure (BP) increased since the first week of L-NAME administration, the Losartan treatment at doses of 20 and 40 mg/kg/day was efficient to reduce BP after the 7th week of treatment. The cardiac adverse remodeling in the LN group was characterized by intense interstitial fibrosis, impairment of the myocardial microvascularization, cardiomyocyte hypertrophy and consequent loss of cardiomyocytes. The aortic wall structure (density per area of smooth muscle cell nuclei and surface density of lamellae), and the superior mesenteric artery media/lumen ratio were also strongly affected by L-NAME administration. Only in the dose equal or higher than 20 mg/kg/day Losartan showed beneficial effects treating these alterations. In conclusion, both the heart and the arterial wall of NO deficient rats suffer a marked adverse remodeling process that is efficiently treated by a dose-dependent Losartan administration. The efficiency of Losartan treatment in this model of NO synthesis blockade correlates with the hypotensor effect of the drug mainly in the high dose treatment.

The variation of head shapes in 17-20 years old native fars male in Gorgan-North of Iran

RESUMEN: El índice cefálico y la forma de la cabeza son afectados por factores geográficos, género, edad y raza. El objetivo de este estudio fue determinar el índice cefálico y la forma de la cabeza en 200 hombres nativos de Gorgan-Norte de Irán, cuyas edades fluctuaban entre 17 y 20 años de edad. El estudio descriptivo fue realizado a través de cefalometría clásica. La media y DS del índice cefálico fue 84.8 + 6.9. El 52% de los individuos era hiperbraquicéfalo, 25% braquicéfalo, 21.5% mesocéfalo y 1.5% doliocéfalo. Los individuos nativos Fars eran típicamente hiperbraquicéfalos. En comparación con otros estudios efectuados en el mundo, podemos determinar el rol del factor racial/étnico en los diámetros cefálicos.

Methodology to identify Iranian immigrants for epidemiological studies.

Determining ethnic differences in cancer patterns using administrative databases is often a methodological challenge for information on ethnicity or place of birth is commonly lacking. This paper describes the approach we used to identify Iranians residing in British Columbia (BC), Canada and who were registered within the BC Cancer Registry. A listing of common Iranian surnames and given names was generated from two sources: a residential telephone book (with a high density of Iranians) and a provincial breast cancer screening program (which allowed for the selection of women born in Iran). Surnames and given names were reviewed manually and the Iranian names were identified and coded as 'highly probable' and 'probable' Iranian. A name directory was then created and linked with the BC Cancer Registry to identify Iranian cancer cases. Using this method, 1729 surnames and 737 given names were selected from the telephone book, and 1881 surnames and 757 given names from the screening program. The majority of these names were coded as 'highly probable' Iranian (98% and 96% for surnames and given names, respectively). 12% of surnames and 10% of given names were common to both sources. A listing of the most common Iranian surnames and given names is provided. In conclusion, in the absence of other ethnicity data, surnames and given names can be very helpful to identify persons of specific ethnicities when these ethnic groups have distinctive names.