Entwined African and Asian genetic roots of medieval peoples of the Swahili coast.

The urban peoples of the Swahili coast traded across eastern Africa and the Indian Ocean and were among the first practitioners of Islam among sub-Saharan people1,2. The extent to which these early interactions between Africans and non-Africans were accompanied by genetic exchange remains unknown. Here we report ancient DNA data for 80 individuals from 6 medieval and early modern (AD 1250-1800) coastal towns and an inland town after AD 1650. More than half of the DNA of many of the individuals from coastal towns originates from primarily female ancestors from Africa, with a large proportion-and occasionally more than half-of the DNA coming from Asian ancestors. The Asian ancestry includes components associated with Persia and India, with 80-90% of the Asian DNA originating from Persian men. Peoples of African and Asian origins began to mix by about AD 1000, coinciding with the large-scale adoption of Islam. Before about AD 1500, the Southwest Asian ancestry was mainly Persian-related, consistent with the narrative of the Kilwa Chronicle, the oldest history told by people of the Swahili coast3. After this time, the sources of DNA became increasingly Arabian, consistent with evidence of growing interactions with southern Arabia4. Subsequent interactions with Asian and African people further changed the ancestry of present-day people of the Swahili coast in relation to the medieval individuals whose DNA we sequenced.

Comparison of KIR gene content profiles revealed a difference between northern and southern Persians in the distribution of KIR2DS5 and its linked loci.

Killer cell immunoglobulin-like receptors (KIR) are the key receptors of human natural killer (NK) cells that mount an early immune response against infection and tumors. The number and type of KIR genes are substantially variable between individuals and populations. Recently we reported KIR gene content diversity in a Persian population living in the southern province of Fars, which is comparable to that of European Caucasians. These results are consistent with the ethnic ancestry and affinity between Persians and Caucasians. Herein we analyzed another Persian population living in the northern province of Tehran and discovered an unexpected increase in the distribution of KIR2DS5 and its linked loci KIR3DS1, -2DS1, and -2DL5 in northern Persians compared with that reported in the southern Persian population. Although the geographic barriers may have limited the gene flow, the impact of the local environment on the natural selection of KIR2DS5 and its linked loci in the northern Persians cannot be completely ruled out. The difference in northern and southern populations in activating KIR gene content creates an appealing hypothesis that KIR2DS5-enriched northern Persians are more resistant to developing clinical conditions demonstrated to be associated with KIR2DS5, such as psoriasis vulgaris, endometriosis, ankylosing spondylitis, and acute rejection of kidney grafts, compared with those living in the southern part of the country.

Facial soft tissue values in Persian adults with normal occlusion and well-balanced faces.

OBJECTIVE: To determine the mean soft tissue facial profile for Persian adults as determined by the Holdaway analysis. MATERIALS AND METHODS: Lateral cephalometric radiographs for 62 Persian adults with normal occlusion were used. RESULTS: Persian adults have the same values of Holdaway soft tissue norms except for the skeletal profile convexity, H angle, basic upper lip thickness, and soft tissue chin thickness, which were increased in Persians in relation to Holdaway norms. When comparing men with women, the nose prominence (P < .001), basic upper lip thickness (P < .001), upper lip thickness (P < .001), inferior sulcus to H line (P < .001), and soft tissue chin thickness (P < .01) were significantly increased in Persian men compared with Persian women. CONCLUSIONS: Persian adults differ from Holdaway's soft tissue norms in an increased skeletal profile convexity, H angle, basic upper lip thickness, and soft tissue chin thickness. These are recommended for use when formulating a treatment plan for this ethnic group.

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia. Muscle biopsy demonstrated low activity of complexes 1 and 4 of the respiratory chain. Electron microscopy revealed paracrystalline inclusions in most mitochondria. Southern blot of the mitochondrial DNA did not show any large-scale rearrangements. The patient was found to be homozygous for the 656C-->T mutation in the pseudouridine synthase 1 gene (PUS1). Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia is an oxidative phosphorylation disorder causing sideroblastic anemia, myopathy, and, in some cases, mental retardation that is due to mutations in the nuclear-encoded PUS1 gene. This finding provides additional evidence that mitochondrial ribonucleic acid modification impacts the phenotypic expression of oxidative phosphorylation disorders.

Hypertension in the Parsi community of Bombay: a study on prevalence, awareness and compliance to treatment.

BACKGROUND: Uncontrolled hypertension (HT) is an established risk factor for the development of vascular diseases. Prevalence varies in different communities and no such study has been conducted in the Parsi community living in Bombay, India. The objectives of this study were to determine the prevalence, awareness, compliance to medication and control of HT in this community. METHOD: We used a 1 in 4 random selection of subjects who were > or = 20 years of age. A questionnaire was administered and the blood pressure (BP) was measured by a doctor. HT was defined as diastolic blood pressure (DBP) > or = 90 mm Hg +/- systolic pressure (SBP) > or = 140 mm Hg. Isolated systolic hypertension (ISH) was defined as SBP > or = 160 mm Hg with DBP < 90 mm Hg. Subsequently, we reanalysed the data using current definition of ISH as SBP > or = 140 mm Hg with DBP < 90 mm Hg. RESULTS: 2879 subjects > or = 20 years of age were randomly selected of which 2415 (84%) participated in the study. The overall prevalence of HT in the community was 36.4%, of whom 48.5% were unaware of their hypertensive status. Of those aware of having HT, 36.4% were non-compliant with their anti-hypertensive drugs and only 13.6% had optimally controlled HT. Prevalence of ISH using the present criteria was 19.5% and 73% of hypertensives > or = 60 years had ISH. CONCLUSION: This study shows that prevalence of HT in the Parsi community is high and nearly half are unaware of their hypertensive status. ISH is the dominant form of HT in the elderly. Compliance to treatment is poor and optimal BP control is achieved in only a small minority. The study highlights the need for regular screening coupled with educational programs to detect and optimally treat HT in the community.

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

PURPOSE: To identify the genetic defect causing autosomal recessive cataract in two inbred families. METHODS: Linkage analysis was performed with polymorphic markers close to 14 loci previously shown to be involved in autosomal dominant congenital cataract. In one of the families a gene segregating with the disease was analyzed by single-strand conformation polymorphism (SSCP) and eventually sequenced. RESULTS: Three polymorphic markers close to the CRYAA gene located on chromosome 21q segregated with the disease phenotype in one of the families, but not in the other. Sequencing of the CRYAA in this Jewish Persian family revealed a G-to-A substitution, resulting in the formation of a premature stop codon (W9X). CONCLUSIONS: A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family. This constitutes the first description of the molecular defect underlying nonsyndromic autosomal recessive congenital cataract. That there was no linkage to this locus in another family provides evidence for genetic heterogeneity.